Rare Cancer News & Clinical Trials

Brain and CNS (679 unread)

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WONOEP appraisal: The role of glial cells in focal malformations associated with early onset epilepsies

Fetched: October 16th, 2024, 2:01am UTC by Silvia Cases-Cunillera

Epilepsia. 2024 Oct 14. doi: 10.1111/epi.18126. Online ahead of print.

ABSTRACT

Epilepsy represents a common neurological disorder in patients with developmental brain lesions, particularly in association with malformations of cortical development and low-grade glioneuronal tumors. In these diseases, genetic and molecular alterations in neurons are increasingly discovered that can trigger abnormalities in the neuronal network, leading to higher neuronal excitability levels. However, the mechanisms underlying epilepsy cannot rely solely on assessing the neuronal component. Growing evidence has revealed the high degree of complexity underlying epileptogenic processes, in which glial cells emerge as potential modulators of neuronal activity. Understanding the role of glial cells in developmental brain lesions such as malformations of cortical development and low-grade glioneuronal tumors is crucial due to the high degree of pharmacoresistance characteristic of these lesions. This has prompted research to investigate the role of glial and immune cells in epileptiform activity to find new therapeutic targets that could be used as combinatorial drug therapy. In a special session of the XVI Workshop of the Neurobiology of Epilepsy (WONOEP, Talloires, France, July 2022) organized by the Neurobiology Commission of the International League Against Epilepsy, we discussed the evidence exploring the genetic and molecular mechanisms of glial cells and immune response and their implications in the pathogenesis of neurodevelopmental pathologies associated with early life epilepsies.

PMID:39401070 | DOI:10.1111/epi.18126

A ganglioglioma versus a schwannoma: Which is in the sacral spine?

Fetched: October 16th, 2024, 2:01am UTC by Ali Msheik

Int J Surg Case Rep. 2024 Sep 12;124:110269. doi: 10.1016/j.ijscr.2024.110269. Online ahead of print.

ABSTRACT

INTRODUCTION AND IMPORTANCE: Sacral spinal gangliogliomas, rare WHO grade I tumors, present a surgical challenge due to their proximity to critical nerve roots. Symptoms often include lower back pain, sciatica, and bladder dysfunction. Diagnosis is confirmed through MRI and biopsy, with surgical resection being the primary treatment.

CASE PRESENTATION: A 66-year-old woman presented with left lower limb pain and weakness. MRI showed an intradural lesion at the left S1 root. She underwent surgery, resulting in near-total tumor resection. Postoperatively, she was pain-free and ambulatory. Pathology confirmed a ganglioglioma.

CLINICAL DISCUSSION: Initially suspected as a disc herniation, MRI indicated a schwannoma-like lesion, but surgery and pathology revealed a ganglioglioma. Total resection was challenging due to the tumor's neural adherence. Radiotherapy and chemotherapy are generally not used for low-grade gangliogliomas.

CONCLUSION: Treating sacral spinal gangliogliomas requires precise surgery and a multidisciplinary approach. Accurate diagnosis and careful planning are essential for minimizing neurological risks and improving patient outcomes. Continued research is crucial for advancing treatment strategies.

PMID:39368302 | DOI:10.1016/j.ijscr.2024.110269

Permalink for 'Seizure outcome in surgically treated pediatric gangliogliomas and dysembryoplastic neuroepitheliomas according to imaging and resection strategies'

Seizure outcome in surgically treated pediatric gangliogliomas and dysembryoplastic neuroepitheliomas according to imaging and resection strategies

Fetched: October 16th, 2024, 2:01am UTC by Julia Shawarba

Seizure. 2024 Sep 12;122:19-25. doi: 10.1016/j.seizure.2024.09.002. Online ahead of print.

ABSTRACT

PURPOSE: Imaging and resection strategies for pediatric gangliogliomas (GG) and dysembryoplastic neuroepitheliomas (DNET) presenting with epilepsy were retrospectively analyzed in a consecutive institutional series of surgically treated patients.

METHODS: Twenty-two children (median 8 years, 3-18 years) presented with seizures for 30 months median (14-55.2 months) due to a histologically verified GG/DNET.

RESULTS: There were 20 GG and 2 DNT, 68 % located temporal, 32 % extra-temporal. Seizure history was significantly longer in temporal cases (38 versus 14 months median, p < 0.01). MRI contrast enhancement was present in 50 % and methionine (MET) positron emission tomography (PET) uptake in 70 % (standard uptake values (SUVs) 2.92 mean, from 1.6 to 6.4). 27 % had glucose PET hypometabolism. Primarily, in temporal GG, ECoG (electrocorticography) -guided lesionectomies were performed in 87 % and antero-mesial temporal lobe resections (AMTLR) in 13 %, whereas in extra-temporal GG/DNETs, lesionectomies were performed in 100 %. ILAE Class 1 seizure outcome was primarily achieved in 73 % of the temporal cases, and was increased to 93 % by performing six repeat surgeries using AMTLR. Extratemporal patients experienced ILAE Class 1 seizure outcomes in 86 % without additional surgeries, although harboring significantly more residual tumor (p < 0.005, mean follow-up 28 months).

CONCLUSION: In children, MET PET imaging for suspected GG is proposed preoperatively showing a high diagnostic sensitivity and an option to delineate the lesions for navigated resection, whereas MRI contrast behavior was of no differential diagnostic use. As a surgical strategy we propose primarily lesionectomies for extratemporal but AMTLR for temporal GG respecting eloquent brain areas.

PMID:39303463 | DOI:10.1016/j.seizure.2024.09.002

Permalink for 'Contralateral transcallosal transfalcine approach for bilateral intra-extraventricular anaplastic ganglioglioma via 'the trans-tumoral route': a technical case instruction'

Contralateral transcallosal transfalcine approach for bilateral intra-extraventricular anaplastic ganglioglioma via 'the trans-tumoral route': a technical case instruction

Fetched: October 16th, 2024, 2:01am UTC by Giuseppe Emmanuele Umana

Br J Neurosurg. 2024 Sep 9:1-6. doi: 10.1080/02688697.2024.2400146. Online ahead of print.

ABSTRACT

BACKGROUND: Bilateral, biventricular lesions present a challenging scenario in neurosurgery, often requiring complex surgical techniques for management. Gangliogliomas (GG), while typically indolent, can manifest as anaplastic variants (AGG), necessitating comprehensive treatment strategies. This case study explores a unique surgical approach for a patient with bilateral, intra-extraventricular lesions infiltrating the corpus callosum, highlighting the complexities of managing such cases.

METHODS: A 63-year-old female presented with a progressive intraventricular lesion infiltrating the left frontal lobe, diagnosed initially as a ganglioglioma. Following resection and histological examination, the lesion was confirmed as a WHO Grade 1 ganglioglioma. Subsequently, a contralateral lesion emerged, necessitating a novel surgical approach to achieve maximal safe resection while minimising neurological deficits. The technique involved extending the surgical corridor contralaterally along the tumour route, guided by neuronavigation and fluorescence imaging.

RESULTS: The surgical approach enabled maximal safe resection of the lesion, with postoperative imaging confirming complete resection in most sites except for a known infiltration in the right posterior lateral ventricle. Histological examination revealed AGG, prompting subsequent adjuvant radiotherapy due to its aggressive nature.

CONCLUSION: The management of bilateral, biventricular lesions such as AGG requires innovative surgical approaches tailored to individual patient characteristics. The case highlights the efficacy of a transtumoral approach in achieving maximal safe resection while minimising neurological sequelae. Moreover, it underscores the importance of comprehensive treatment strategies, including adjuvant therapies, in addressing aggressive histological variants of gangliogliomas.

PMID:39246067 | DOI:10.1080/02688697.2024.2400146

Tumor-Agnostic Genomic and Clinical Analysis of BRAF Fusions Identifies Actionable Targets

Fetched: September 4th, 2024, 2:02am UTC by Monica F Chen

Clin Cancer Res. 2024 Sep 3;30(17):3812-3823. doi: 10.1158/1078-0432.CCR-23-3981.

ABSTRACT

PURPOSE: Even though BRAF fusions are increasingly detected in standard multigene next-generation sequencing panels, few reports have explored their structure and impact on clinical course.

EXPERIMENTAL DESIGN: We collected data from patients with BRAF fusion-positive cancers identified through a genotyping protocol of 97,024 samples. Fusions were characterized and reviewed for oncogenic potential (in-frame status, non-BRAF partner gene, and intact BRAF kinase domain).

RESULTS: We found 241 BRAF fusion-positive tumors from 212 patients with 82 unique 5' fusion partners spanning 52 histologies. Thirty-nine fusion partners were not previously reported, and 61 were identified once. BRAF fusion incidence was enriched in pilocytic astrocytomas, gangliogliomas, low-grade neuroepithelial tumors, and acinar cell carcinoma of the pancreas. Twenty-four patients spanning multiple histologies were treated with MAPK-directed therapies, of which 20 were evaluable for RECIST. Best response was partial response (N = 2), stable disease (N = 11), and progressive disease (N = 7). The median time on therapy was 1 month with MEK plus BRAF inhibitors [(N = 11), range 0-18 months] and 8 months for MEK inhibitors [(N = 14), range 1-26 months]. Nine patients remained on treatment for longer than 6 months [pilocytic astrocytomas (N = 6), Erdheim-Chester disease (N = 1), extraventricular neurocytoma (N = 1), and melanoma (N = 1)]. Fifteen patients had acquired BRAF fusions.

CONCLUSIONS: BRAF fusions are found across histologies and represent an emerging actionable target. BRAF fusions have a diverse set of fusion partners. Durable responses to MAPK therapies were seen, particularly in pilocytic astrocytomas. Acquired BRAF fusions were identified after targeted therapy, underscoring the importance of postprogression biopsies to optimize treatment at relapse in these patients.

PMID:38922339 | PMC:PMC11371517 | DOI:10.1158/1078-0432.CCR-23-3981

The Role of Radiotherapy, Chemotherapy, and Targeted Therapies in Adult Intramedullary Spinal Cord Tumors

Fetched: September 1st, 2024, 2:01am UTC by Ines Esparragosa Vazquez

Cancers (Basel). 2024 Aug 6;16(16):2781. doi: 10.3390/cancers16162781.

ABSTRACT

Intramedullary primary spinal cord tumors are rare in adults and their classification has recently evolved. Their treatment most frequently relies on maximal safe surgical resection. Herein, we review, in light of the WHO 2021 classification of central nervous system tumors, the knowledge regarding the role of radiotherapy and systemic treatments in spinal ependymomas, spinal astrocytomas (pilocytic astrocytoma, diffuse astrocytoma, spinal glioblastoma IDH wildtype, diffuse midline glioma H3-K27M altered, and high-grade astrocytoma with piloid features), neuro-glial tumors (ganglioglioma and diffuse leptomeningeal glioneuronal tumor), and hemangioblastomas. In spinal ependymomas, radiotherapy is recommended for incompletely resected grade 2 tumors, grade 3 tumors, and recurrent tumors not amenable to re-surgery. Chemotherapy is used in recurrent cases. In spinal astrocytomas, radiotherapy is recommended for incompletely resected grade 2 astrocytomas and grade 3 or 4 tumors as well as recurrent tumors. Chemotherapy is indicated for newly diagnosed high-grade astrocytomas and recurrent cases. In hemangioblastomas not amenable to surgery, radiotherapy is an effective alternative option. Targeted therapies are playing an increasingly important role in the management of some intramedullary primary spinal cord tumor subtypes. BRAF and/or MEK inhibitors have demonstrated efficacy in pilocytic astrocytomas and glioneuronal tumors, belzutifan in von Hippel-Lindau-related hemangioblastomas, and promising results have been reported with ONC201 in diffuse midline glioma H3-K27M altered.

PMID:39199553 | PMC:PMC11353198 | DOI:10.3390/cancers16162781

Permalink for 'Mesial temporal lobe epilepsy and hippocampal sclerosis associated with BRAFV600E mutant neurons in the Cornu Ammonis: an uncertain pathogenesis and a diagnostic challenge'

Mesial temporal lobe epilepsy and hippocampal sclerosis associated with BRAFV600E mutant neurons in the Cornu Ammonis: an uncertain pathogenesis and a diagnostic challenge

Fetched: August 29th, 2024, 2:01am UTC by Samir Alsalek

Free Neuropathol. 2024 Aug 21;5:5-18. doi: 10.17879/freeneuropathology-2024-5269. eCollection 2024 Jan.

ABSTRACT

Mesial temporal lobe epilepsy (MTLE) is a common cause of seizures, and hippocampal sclerosis (HS) is the predominant subtype. BRAFV600E mutations in MTLE-HS have only been reported infrequently. Herein, we illustrate the neurologic, radiological, and histopathological details of a patient with MTLE-HS and BRAFV600E mutant neurons. A 31-year-old male with medically refractory epilepsy presented with magnetic resonance imaging (MRI) and electroencephalography (EEG) findings typical of mesial temporal sclerosis without a mass lesion. The surgical specimens showed ILAE Type 1 HS with neurons immunopositive for BRAFV600E mutant protein distributed along the Cornu Ammonis (CA) curvature. Instead of the normal mostly perpendicular orientation of pyramidal neurons relative to the hippocampal surface, the BRAF mutant neurons were often oriented in a parallel manner. On CD34 immunostaining, sparse clusters or nodules of CD34+ stellate cells and single immunopositive stellate cells were identified. BRAFV600E or CD34 immunopositive cells were less than 1 % of total cells. The patient responded well to surgery with no further seizures after 2 years and occasional auras. Hippocampal BRAF mutant non-expansive lesion (HBNL) has been used to describe such lesions with preserved cytoarchitecture and without overt tumor mass. Others may argue for the dual pathology of HS with early ganglioglioma. Whether pre-neoplastic lesions or early tumors, these cases are important for understanding early glioneuronal tumorigenesis and suggest that BRAFV600E studies should be routinely performed on MTLE-HS cases in the setting of clinical trials. With next-generation sequencing, a FANCL deletion was detected in almost half of the alleles in our case, suggesting that many of the histologically normal-appearing cells of the hippocampus contain this alteration. FANCL mutations can result in cytogenetic anomalies and defective DNA repair and therefore may underlie the development of a low frequency BRAF alteration.

PMID:39193025 | PMC:PMC11348864 | DOI:10.17879/freeneuropathology-2024-5269

Extra-temporal pediatric low-grade gliomas and epilepsy

Fetched: August 28th, 2024, 2:01am UTC by JosÃ© Hinojosa

Childs Nerv Syst. 2024 Aug 27. doi: 10.1007/s00381-024-06573-8. Online ahead of print.

ABSTRACT

Low-grade gliomas, especially glioneuronal tumors, are a common cause of epilepsy in children. Seizures associated with low-grade pediatric tumors are medically refractory and present a significant burden to patients. Often, morbidity and patientsÂ´ quality of life are determined rather by the control of seizures than the oncological process itself and the resolution of epilepsy represents an important part in the treatment of LGGs. The pathogenesis of tumor-related seizures in focal LGG tumors is multifactorial, and mechanisms differ probably among patients and tumor types. Pediatric low-grade tumors associated with epilepsy include a series of neoplasms that have a pure astrocytic or glioneuronal lineage. They are usually benign tumors with a neocortical localization typically in the temporal lobes, but also in other supratentorial locations. Gangliogliomas and dysembryoplastic neuroepithelial tumors (DNET) are the most common entities together with astrocytic gliomas (pilocytic astrocytomas and pleomorphic xanthoastrocytoma) and angiocentric gliomas, and dual pathology is found in up to 40% of glioneuronal tumors. The treatment of low-grade gliomas and associated epilepsy is based mainly on resection and the extent of surgery is the main predictor of postoperative seizure control in patients with a LGG. Long-term epilepsy-associated tumors (LEATs) tend to be well-circumscribed, and therefore, the chances for a complete resection and epilepsy control with a safe approach are very high. New treatments have emerged as alternatives to open microsurgical approaches, including laser thermal ablation or the use of BRAF inhibitors. Future advances in identifying seizure-related biomarkers and molecular tumor pathways will facilitate targeted treatment strategies that will have a deep impact both in oncologic and epilepsy outcomes.

PMID:39191974 | DOI:10.1007/s00381-024-06573-8

Cortically-based Brain Tumors in Children: A Decision-tree Approach in the Radiology Reading Room

Fetched: August 27th, 2024, 2:01am UTC by Vanessa Rameh

AJNR Am J Neuroradiol. 2024 Aug 24:ajnr.A8477. doi: 10.3174/ajnr.A8477. Online ahead of print.

ABSTRACT

Cortically-based brain tumors in children constitute a unique set of tumors with variably aggressive biological behavior. As radiologists play an integral role on the multidisciplinary medical team, a clinically useful and easy-to-follow flowchart for the differential diagnoses of these complex brain tumors is essential.This proposed algorithm tree provides the latest insights into the typical imaging characteristics and epidemiologic data that differentiate the tumor entities, taking into perspective the 2021 World Health Organization's classification and highlighting classic as well as newly identified pathologic subtypes using current molecular understanding.ABBREVIATIONS: Astroblastoma=AB) Angiocentric glioma (AG) Atypical teratoid rhabdoid tumor (ATRT) Central Nervous System tumor (CNS) CNS neuroblastoma FOXR2-activated (NB-FOXR2) Desmoplastic infantile glioma/astrocytoma (DIG/DIA) Diffuse hemispheric glioma, H3 G34-mutant (DHG) Diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (DGONC) Dysembryoplastic neuroepithelial tumor (DNET) Embryonal Tumors with Multilayered Rosettes (ETMR) Ependymoma (EP) Focal cortical dysplasia (FCD) Ganglioglioma/gangliocytoma (GG) Infant-type hemispheric glioma (IHG) Intracranial pressure (ICP) Long-term epilepsy-associated tumors (LEATs) Pediatric diffuse low-grade gliomas (pLGG) MR spectroscopy (MRS) Multinodular and vacuolating neuronal tumor (MVNT) Overall survival (OS) Pediatric diffuse high-grade gliomas (pHGG).

PMID:39181692 | DOI:10.3174/ajnr.A8477

Intra-axial Cortical-Based Tumour Presented as Homonymous Hemianopia in a Young Patient: A Diagnostic Dilemma

Fetched: August 21st, 2024, 2:01am UTC by Luqmanhaqim Aminuddin

Cureus. 2024 Jul 19;16(7):e64963. doi: 10.7759/cureus.64963. eCollection 2024 Jul.

ABSTRACT

Intra-axial cortical-based tumours are rare tumours affecting children and young adults. These tumours can be classified as either low-grade or high-grade, depending on their aggressiveness and rate of growth. We report a case of homonymous hemianopia secondary to an intra-axial cortical-based tumour in a young patient. A 26-year-old lady presented with bilateral blurring of vision for three weeks associated with a headache. Visual acuity was 6/6 in both eyes. Bilateral optic nerve functions were normal. The Humphrey visual field test showed left-homonymous hemianopia. A CT scan and MRI of the brain revealed an intra-axial cortical-based tumor. Differential diagnoses include pleomorphic xanthoastrocytoma (PXA), ganglioglioma, oligodendroglioma, and dysembryoplastic neuroepithelial tumour (DNET). The patient was treated conservatively and closely monitored through clinic follow-up.

PMID:39161507 | PMC:PMC11331184 | DOI:10.7759/cureus.64963

Permalink for 'Clinical presentation and magnetic resonance imaging findings of a spinal cord ganglioglioma in a 7.5-year-old, male, neutered German shepherd dog'

Clinical presentation and magnetic resonance imaging findings of a spinal cord ganglioglioma in a 7.5-year-old, male, neutered German shepherd dog

Fetched: August 21st, 2024, 2:01am UTC by Emily K Swan

Vet Radiol Ultrasound. 2024 Aug 19. doi: 10.1111/vru.13426. Online ahead of print.

ABSTRACT

A dog presented with a 1-month history of left-sided hemiparesis. MRI showed a focal, 4-cm-long, symmetrical, ovoid, poorly demarcated intramedullary expansion at C6-C7 that was T2-weighted hyperintense, T1-weighted isointense, and noncontrast enhancing. After clinical progression and euthanasia, pathology revealed a neoplasm composed of astrocytes and dysmorphic neurons, consistent with a ganglioglioma. The diagnosis was confirmed with immunohistochemistry and transmission electron microscopy, which demonstrated electron-dense granules in the perikaryon. Gangliogliomas are rare, benign neoplasms that may present as intramedullary spinal cord neoplasia. This is the first report on the clinical presentation, imaging, and pathology of a canine spinal ganglioglioma.

PMID:39161206 | DOI:10.1111/vru.13426

Focal cortical dysplasia type IIIb associated with a KRAS-mutant ganglioglioma

Fetched: August 16th, 2024, 2:01am UTC by Elena A Repnikova

Cancer Genet. 2024 Aug 3;288-289:1-4. doi: 10.1016/j.cancergen.2024.07.004. Online ahead of print.

NO ABSTRACT

PMID:39146656 | DOI:10.1016/j.cancergen.2024.07.004

Transcriptomics-based characterization of the immuno-stromal microenvironment in pediatric low-grade glioma

Fetched: August 14th, 2024, 2:01am UTC by Meik KÃ¶rner

Oncoimmunology. 2024 Aug 9;13(1):2386789. doi: 10.1080/2162402X.2024.2386789. eCollection 2024.

ABSTRACT

Immunologic treatment options are uncommon in low-grade gliomas, although such therapies might be beneficial for inoperable and aggressive cases. Knowledge of the immune and stromal cells in low-grade gliomas is highly relevant for such approaches but still needs to be improved. Published gene-expression data from 400 low-grade gliomas and 193 high-grade gliomas were gathered to quantify 10 microenvironment cell populations with a deconvolution method designed explicitly for brain tumors. First, we investigated general differences in the microenvironment of low- and high-grade gliomas. Lower-grade and high-grade tumors cluster together, respectively, and show a general similarity within and distinct differences between these groups, the main difference being a higher infiltration of fibroblasts and T cells in high-grade gliomas. Among the analyzed entities, gangliogliomas and pleomorphic xanthoastrocytomas presented the highest overall immune cell infiltration. Further analyses of the low-grade gliomas presented three distinct microenvironmental signatures of immune cell infiltration, which can be divided into T-cell/dendritic/natural killer cell-, neutrophilic/B lineage/natural killer cell-, and monocytic/vascular/stromal-cell-dominated immune clusters. These clusters correlated with tumor location, age, and histological diagnosis but not with sex or progression-free survival. A survival analysis showed that the prognosis can be predicted from gene expression, clinical data, and a combination of both with a support vector machine and revealed the negative prognostic relevance of vascular markers. Overall, our work shows that low- and high-grade gliomas can be characterized and differentiated by their immune cell infiltration. Low-grade gliomas cluster into three distinct immunologic tumor microenvironments, which may be of further interest for upcoming immunotherapeutic research.

PMID:39135890 | PMC:PMC11318680 | DOI:10.1080/2162402X.2024.2386789

Desmoplastic infantile astrocytoma/ ganglioglioma in a pediatric onset multiple sclerosis patient: A case report

Fetched: August 9th, 2024, 2:01am UTC by Shima Jahani

Clin Case Rep. 2024 Aug 7;12(8):e9290. doi: 10.1002/ccr3.9290. eCollection 2024 Aug.

ABSTRACT

Here we present a co-occurrence of a non-typical presentation of DIG/DIA and multiple sclerosis in a 13-year-old female. Our case highlights how a thorough investigation prior to treatment is needed in patients with such condition to choose proper management for better prognosis.

PMID:39114838 | PMC:PMC11305837 | DOI:10.1002/ccr3.9290

Genotype-relevant neuroimaging features in low-grade epilepsy-associated tumors

Fetched: August 1st, 2024, 2:01am UTC by Keiya Iijima

Front Neurol. 2024 Jul 16;15:1419104. doi: 10.3389/fneur.2024.1419104. eCollection 2024.

ABSTRACT

INTRODUCTION: Low-grade epilepsy-associated tumors are the second most common histopathological diagnoses in cases of drug-resistant focal epilepsy. However, the connection between neuroimaging features and genetic alterations in these tumors is unclear, prompting an investigation into genotype-relevant neuroimaging characteristics.

METHODS: This study retrospectively analyzed neuroimaging and surgical specimens from 46 epilepsy patients with low-grade epilepsy-associated neuroepithelial tumors that had genetic mutations identified through panel sequencing to investigate their relationship to genotypes.

RESULTS: Three distinct neuroimaging groups were established: Group 1 had indistinct borders and iso T1-weighted and slightly high or high T2-weighted signal intensities without a diffuse mass effect, associated with 93.8% sensitivity and 100% specificity to BRAF V600E mutations; Group 2 exhibited sharp borders and very or slightly low T1-weighted and very high T2-weighted signal intensities with a diffuse mass effect and 100% sensitivity and specificity for FGFR1 mutations; and Group 3 displayed various characteristics. Histopathological diagnoses including diffuse low-grade glioma and ganglioglioma showed no clear association with genotypes. Notably, postoperative seizure-free rates were higher in Group 1 tumors (BRAF V600E) than in Group 2 tumors (FGFR1).

DISCUSSION: These findings suggest that tumor genotype may be predicted by neuroimaging before surgery, providing insights for personalized treatment approaches.

PMID:39081340 | PMC:PMC11286587 | DOI:10.3389/fneur.2024.1419104

Permalink for 'Fast Metabolic Glycan Labeling for Click-Labeling and Imaging of Sialoglycans in Living Acute Brain Slices from Mice and Human Patients'

Fast Metabolic Glycan Labeling for Click-Labeling and Imaging of Sialoglycans in Living Acute Brain Slices from Mice and Human Patients

Fetched: July 31st, 2024, 2:01am UTC by Xiaoqian Xia

J Am Chem Soc. 2024 Aug 7;146(31):22008-22016. doi: 10.1021/jacs.4c07435. Epub 2024 Jul 29.

ABSTRACT

Living acute brain slices provide a practical platform for imaging sialylation in human brain pathology. However, the limited lifespan of acute brain slices has impeded the use of metabolic glycan labeling (MGL), which requires long-term incubation of clickable unnatural sugars such as N-azidoacetylmannosamine (ManNAz) to metabolically incorporate azides into sialoglycans. Here, we report a fast variant of MGL (fMGL), in which ManNAz-6-phosphate enables efficient azidosugar incorporation within 12 h by bypassing the bottleneck step in the sialic acid biosynthesis pathway, followed by click-labeling with fluorophores and imaging of sialoglycans in acute brain slices from mice and human patients. In the clinical samples of ganglioglioma, fMGL-based imaging reveals specific upregulation of sialylation in astrocyte-like but not neuron-like tumor cells. In addition, fMGL is integrated with click-expansion microscopy for high-resolution imaging of sialoglycans in brain slices. The fMGL strategy should find broad applications in the tissue imaging of glycans and surgical pathology.

PMID:39075879 | DOI:10.1021/jacs.4c07435

Permalink for 'Diffuse leptomeningeal glioneuronal tumor with distinct neuronal and glial components but identical diagnostic molecular and genetic features'

Diffuse leptomeningeal glioneuronal tumor with distinct neuronal and glial components but identical diagnostic molecular and genetic features

Fetched: July 30th, 2024, 2:01am UTC by Andrew J Witten

Neuropathology. 2024 Jul 28. doi: 10.1111/neup.12996. Online ahead of print.

ABSTRACT

The 2021 World Health Organization (WHO) classification of the central nervous system (CNS) tumors has classified diffuse leptomeningeal glioneuronal tumor (DLGNT) as a mixed neuronal and glial tumor. Here, we report a DLGNT with two distinct morphological tumor components but identical molecular features. A four-year-old female child presented with progressive right upper extremity weakness. Magnetic resonance imaging (MRI) revealed the leptomeningeal enhancement over the brain stem and cervicothoracic spine. The histological examination of surgical specimens revealed two distinct tumor components: approximately half of the tumor is composed of oligodendroglioma-like tumor intermingled with nodules of ganglioglioma-like tumor. Immunohistochemistry confirmed the oligodendroglioma and ganglioglioma features. The molecular genetic studies demonstrated the features of DLGNT, including fusion of KIAA1549::BRAF, deletion of chromosome 1p, and absence of isocitrate dehydrogenase 1/2 (IDH1/2) mutation in both tumor components. Interestingly, the genetic studies also revealed the distinct chromosomal abnormalities of the loss of chromosome 4 only in oligodendroglioma-like tumor and copy neutral loss of heterozygosity of 7Q34Q36.3 in the ganglioglioma-like tumor component. This case highlights the critical role of molecular testing in the diagnosis of rare cases of DLGNT with diverse morphological components as well as in the identification of unique molecular alternations responsible for morphological phenotypes of the distinct tumors in DLGNT.

PMID:39073721 | DOI:10.1111/neup.12996

NTRK-fused central nervous system tumours: clinicopathological and genetic insights and response to TRK inhibitors

Fetched: July 17th, 2024, 2:01am UTC by Eric Eunshik Kim

Acta Neuropathol Commun. 2024 Jul 16;12(1):118. doi: 10.1186/s40478-024-01798-9.

ABSTRACT

Background Neurotrophic tropomyosin receptor kinase (NTRK) gene fusions are found in 1% of gliomas across children and adults. TRK inhibitors are promising therapeutic agents for NTRK-fused gliomas because they are tissue agnostic and cross the blood-brain barrier (BBB). Methods We investigated twelve NGS-verified NTRK-fused gliomas from a single institute, Seoul National University Hospital. Results The patient cohort included six children (aged 1-15 years) and six adults (aged 27-72 years). NTRK2 fusions were found in ten cerebral diffuse low-grade and high-grade gliomas (DLGGs and DHGGs, respectively), and NTRK1 fusions were found in one cerebral desmoplastic infantile ganglioglioma and one spinal DHGG. In this series, the fusion partners of NTRK2 were HOOK3, KIF5A, GKAP1, LHFPL3, SLMAP, ZBTB43, SPECC1L, FKBP15, KANK1, and BCR, while the NTRK1 fusion partners were TPR and TPM3. DLGGs tended to harbour only an NTRK fusion, while DHGGs exhibited further genetic alterations, such as TERT promoter/TP53/PTEN mutation, CDKN2A/2B homozygous deletion, PDGFRA/KIT/MDM4/AKT3 amplification, or multiple chromosomal copy number aberrations. Four patients received adjuvant TRK inhibitor therapy (larotrectinib, repotrectinib, or entrectinib), among which three also received chemotherapy (n = 2) or proton therapy (n = 1). The treatment outcomes for patients receiving TRK inhibitors varied: one child who received larotrectinib for residual DLGG maintained stable disease. In contrast, another child with DHGG in the spinal cord experienced multiple instances of tumour recurrence. Despite treatment with larotrectinib, ultimately, the child died as a result of tumour progression. An adult patient with glioblastoma (GBM) treated with entrectinib also experienced tumour progression and eventually died. However, there was a successful outcome for a paediatric patient with DHGG who, after a second gross total tumour removal followed by repotrectinib treatment, showed no evidence of disease. This patient had previously experienced relapse after the initial surgery and underwent autologous peripheral blood stem cell therapy with carboplatin/thiotepa and proton therapy. Conclusions Our study clarifies the distinct differences in the pathology and TRK inhibitor response between LGG and HGG with NTRK fusions.

PMID:39014476 | PMC:PMC11251294 | DOI:10.1186/s40478-024-01798-9

Pediatric autoimmune retinopathy and optic neuropathy: a case report and a review of the literature

Fetched: July 11th, 2024, 2:01am UTC by Hersh Varma

Front Ophthalmol (Lausanne). 2023 Dec 15;3:1275335. doi: 10.3389/fopht.2023.1275335. eCollection 2023.

ABSTRACT

PURPOSE: The purpose of the study was to present a rare case of pediatric bilateral optic neuropathy and retinopathy, which was consistent with a diagnosis of autoimmune retinopathy. We also reviewed the most current literature and phenotypes associated with reported pediatric cases of autoimmune retinopathy.

DESIGN: The design of the study was a case report, with a retrospective case series literature review.

SUBJECTS: This study incorporated data from six subjects, with one presenting as an original case report and five being identified from the English-language literature published to date.

MATERIALS AND METHODS: The materials and methods involved a descriptive analysis of fundus findings, electrophysiologic testing, serum autoantibody testing, optical coherence tomography (OCT), brain MRI scanning, and fluorescein angiography, which were performed where available.

MAIN OUTCOME MEASURES: The study evaluated the clinical presentation and treatment outcomes of all subjects and followed their visual function over time.

RESULTS: All six subjects had retinal abnormalities that were documented on imaging, while five out of the six subjects had optic nerve abnormalities. Electrophysiologic testing was performed on three subjects, all of whom recorded abnormal results. An underlying neoplastic disorder was described for four subjects. Serum autoantibody testing results were available for four subjects. The serum testing included using antibodies against a 22-kDa antigen, a 35-kDa optic nerve-derived antigen, a 62-kDa antigen, enolase, recoverin, tubulin, and pyruvate kinase M2. Our subject presented 12 years after resection of a ganglioglioma with asymmetric bilateral vision loss, disc edema in one eye, advanced disc pallor in the fellow eye, and bilateral subtle retinal infiltrates, despite having a normal fluorescein angiogram. OCT demonstrated asymmetric ganglion cell layer thinning, which is consistent with the vision loss. Our subject also had abnormal brain MRI findings of widespread pachymeningeal enhancement, but he had a normal cerebrospinal fluid composition. He was initially treated with high-dose pulse steroids, followed by intravenous immunoglobulin therapy. He experienced partial visual recovery in both eyes.

CONCLUSIONS: Pediatric autoimmune retinopathy and optic neuropathy are rare diseases that can present with unique signs and symptoms. In pediatric patients who present with symptoms of subacute progressive vision loss with negative inflammatory workups, a history of prior neoplasm, and/or clinical findings of progressive retinopathy or optic neuropathy, an autoimmune process should be considered in the differential.

PMID:38983022 | PMC:PMC11182202 | DOI:10.3389/fopht.2023.1275335

Permalink for 'Unraveling morphology, methylation profiling, and diagnostic challenges in BRAF-Mutant pediatric glial and glioneuronal tumors'

Unraveling morphology, methylation profiling, and diagnostic challenges in BRAF-Mutant pediatric glial and glioneuronal tumors

Fetched: July 10th, 2024, 2:01am UTC by Murad Alturkustani

Neurosciences (Riyadh). 2024 Jul;29(3):168-176. doi: 10.17712/nsj.2024.3.20230108.

ABSTRACT

OBJECTIVES: To elucidate the relationship between DNA methylation profiling (DMP) and pathological diagnosis (PD) in pediatric glial and glioneuronal tumors with B-Raf proto-oncogene, serine/threonine kinase (BRAF) mutations, addressing their diagnostic challenges.

METHODS: This retrospective study, conducted in Saudi Arabia, analyzed 47 cases from the Children's Brain Tumor Network online database using scanned images, next-generation sequencing data, and methylation profiles processed using the Heidelberg methylation brain tumor classifiers v12.5 and v12.8. The data was last access on 10 November 2023.

RESULTS: The highest prevalence of BRAF mutations was observed in pilocytic astrocytoma and ganglioglioma. The DMP was consistent with PD in 23 cases, but discrepancies emerged in others, including diagnostic changes in diffuse leptomeningeal glioneuronal tumor and polymorphous low-grade neuroepithelial tumor of the young. A key inconsistency appeared between a pilocytic astrocytoma MC and a glioneuronal tumor PD. Two high-grade astrocytomas were misclassified as pleomorphic xanthoastrocytomas. Additionally, low variant allelic frequency in gangliogliomas likely contributed to misclassifications as control in 5 cases.

CONCLUSION: This study emphasized the importance of integrating DMP with PD in diagnosing pediatric glial and glioneuronal tumors with BRAF mutations. Although DMP offers significant diagnostic insights, its limitations, particularly in cases with low tumor content, necessitate cautious interpretation, as well as its use as a complementary diagnostic tool, rather than a definitive method.

PMID:38981632 | PMC:PMC11305341 | DOI:10.17712/nsj.2024.3.20230108

Imaging of pediatric glioneuronal and neuronal tumors

Fetched: July 4th, 2024, 2:01am UTC by Vivek Pai

Childs Nerv Syst. 2024 Jul 3. doi: 10.1007/s00381-024-06502-9. Online ahead of print.

ABSTRACT

Glioneuronal tumors (GNTs) are an expanding group of primary CNS neoplasms, commonly affecting children, adolescents and young adults. Most GNTs are relatively indolent, low-grade, WHO grade I lesions. In the pediatric age group, GNTs have their epicenter in the cerebral cortex and present with seizures. Alterations in the mitogen-activated protein kinase (MAPK) pathway, which regulates cell growth, are implicated in tumorigenesis. Imaging not only plays a key role in the characterization and pre-surgical evaluation of GNTs but is also crucial role in follow-up, especially with the increasing use of targeted inhibitors and immunotherapies. In this chapter, we review the clinical and imaging perspectives of common pediatric GNTs.

PMID:38960918 | DOI:10.1007/s00381-024-06502-9

Permalink for 'Publisher Correction: Ganglioglioma deep transcriptomics reveals primitive neuroectoderm neural precursor-like population'

Publisher Correction: Ganglioglioma deep transcriptomics reveals primitive neuroectoderm neural precursor-like population

Fetched: June 28th, 2024, 2:01am UTC by Joshua A Regal

Acta Neuropathol Commun. 2024 Jun 27;12(1):107. doi: 10.1186/s40478-024-01788-x.

NO ABSTRACT

PMID:38937835 | PMC:PMC11209961 | DOI:10.1186/s40478-024-01788-x

Long-term seizure outcome after epilepsy surgery of neuroglial tumors

Fetched: June 8th, 2024, 2:01am UTC by Attila RÃ¡cz

Front Neurol. 2024 May 23;15:1384494. doi: 10.3389/fneur.2024.1384494. eCollection 2024.

ABSTRACT

PURPOSE: Neuroglial tumors are frequently associated with pharmacorefractory epilepsies. However, comprehensive knowledge about long-term outcomes after epilepsy surgery and the main prognostic factors for outcome is still limited. We sought to evaluate long-term outcomes and potential influencing factors in a large cohort of patients who underwent surgery for neuroglial tumors in a single-center setting.

METHODS: The study analyzed the outcomes of 107 patients who underwent epilepsy surgery for neuroglial tumors between 2001 and 2020 at the Department of Epileptology, University Hospital Bonn, in Germany. The outcomes were evaluated using Engel classification. Differences in outcome related to potential prognostic factors were examined using the Chi2-test, Fisher's exact test and sign test. Additionally, stepwise logistic regression analysis was employed to identify independent prognostic factors.

RESULTS: Complete seizure freedom (Engel Class IA) was achieved in 75% of the operated patients at 12 months, and 56% at the last follow-up visit (70.4 Â± 6.2 months, median: 40 months). Completeness of resection was a crucial factor for both 12-month follow-up outcomes and the longest available outcomes, whereas lobar tumor localization, histology (ganglioglioma vs. dysembryoplastic neuroepithelial tumor), history of bilateral tonic-clonic seizures prior to surgery, invasive diagnostics, side of surgery (dominant vs. non-dominant hemisphere), age at epilepsy onset, age at surgery, and epilepsy duration did not consistently impact postsurgical outcomes. Among temporal lobe surgeries, patients who underwent lesionectomy and lesionectomy, including hippocampal resection, demonstrated similar outcomes.

CONCLUSION: Neuroglial tumors present as excellent surgical substrates in treating structural epilepsy. To achieve an optimal postsurgical outcome, a complete lesion resection should be pursued whenever possible.

PMID:38846038 | PMC:PMC11153734 | DOI:10.3389/fneur.2024.1384494

Clinicopathological characteristics of gangliogliomas with anaplastic morphology

Fetched: June 4th, 2024, 2:01am UTC by L A Guo

Zhonghua Bing Li Xue Za Zhi. 2024 Jun 8;53(6):585-591. doi: 10.3760/cma.j.cn112151-20231227-00444.

ABSTRACT

Objective: To investigate the clinical, radiological, and pathological features of anaplastic gangliogliomas (AGGs) and to determine whether these tumors represent a distinct entity. Methods: Consecutive 667 cases of ganglioglioma (GG) diagnosed at the Xuanwu Hospital, Capital Medical University, Beijing, China between January 2015 and July 2023 were screened. Among these cases, 9 pathologically confirmed AGG cases were identified. Their clinical, radiological, treatment, and outcome data were analyzed retrospectively. Most of the tumor samples were subject to next-generation sequencing, while a subset of them were subject to DNA methylation profiling. Results: Among the 9 patients, there were five males and four females, with a median age of 8 years. Epileptic seizures (5/9) were the most frequently presented symptom. Radiological examinations showed three types of radiological manifestations: four cases showed abnormal MRI signals with no significant mass effects and mild enhancement; two cases demonstrated a mixed solid-cystic density lesion with peritumoral edema, which showed significant heterogeneous enhancement and obvious mass effects, and one case displayed cystic cavity formation with nodules on MRI, which showed evident enhancements. All cases exhibited mutations that were predicted to activate the MAP kinase signaling pathway, including seven with BRAF p.V600E mutation and two with NF1 mutation. Five AGGs with mutations involving the MAP kinase signaling pathway also had concurrent mutations, including three with CDKN2A homozygous deletion, one with a TERT promoter mutation, one with a H3F3A mutation, and one with a PTEN mutation. Conclusions: AGG exhibits a distinct spectrum of pathology, genetic mutations and clinical behaviors, differing from GG. Given these characteristics suggest that AGG may be a distinct tumor type, further expansion of the case series is needed. Therefore, a comprehensive integration of clinical, histological, and molecular analyses is required to correctly diagnose AGG. It will also help guide treatments and prognostication.

PMID:38825904 | DOI:10.3760/cma.j.cn112151-20231227-00444

Low-grade glioma of the temporal lobe and tumor-related epilepsy in children

Fetched: May 26th, 2024, 2:01am UTC by Ronnie E Baticulon

Childs Nerv Syst. 2024 May 24. doi: 10.1007/s00381-024-06468-8. Online ahead of print.

ABSTRACT

PURPOSE: Low-grade glioma is the most common brain tumor among children and adolescents. When these tumors arise in the temporal lobe, patients frequently present with seizures that are poorly controlled with antiepileptic drugs. Here we summarize the clinical features, pathophysiology, preoperative evaluation, surgical treatment, and outcomes of pediatric patients with low-grade gliomas in the temporal lobe.

METHODS: We reviewed the literature on pediatric low-grade gliomas in the temporal lobe, focusing on cohort studies and systematic reviews that described surgical treatment strategies and reported both oncologic and epilepsy outcomes.

RESULTS: The differential diagnoses of pediatric low-grade gliomas in the temporal lobe include ganglioglioma, dysembryoplastic neuroepithelial tumor, desmoplastic infantile ganglioglioma, papillary glioneuronal tumor, pilocytic astrocytoma, pleomorphic xanthoastrocytoma, angiocentric glioma, and polymorphous low-grade neuroepithelial tumor of the young. There is no consensus on the optimal surgical approach for these tumors: lesionectomy alone, or extended lesionectomy with anterior temporal lobectomy, with or without removal of mesial temporal structures. Gross total resection and shorter preoperative duration of epilepsy are strongly associated with favorable seizure outcomes, defined as Engel Class I or Class II, approaching 90% in most series. The risk of surgical complications ranges from 4 to 17%, outweighing the lifetime risks of medically refractory epilepsy.

CONCLUSION: Pediatric patients with temporal low-grade glioma and tumor-related epilepsy are best managed by a multidisciplinary epilepsy surgery team. Early and appropriate surgery leads to prolonged survival and a greater likelihood of seizure freedom, improving their overall quality of life.

PMID:38789690 | DOI:10.1007/s00381-024-06468-8

Permalink for 'Desmoplastic non-infantile ganglioglioma mimicking diffuse leptomeningeal glioneuronal tumor: precision diagnostics and therapeutic implications'

Desmoplastic non-infantile ganglioglioma mimicking diffuse leptomeningeal glioneuronal tumor: precision diagnostics and therapeutic implications

Fetched: May 24th, 2024, 2:01am UTC by Pitt Niehusmann

Acta Oncol. 2024 May 23;63:392-394. doi: 10.2340/1651-226X.2024.31720.

NO ABSTRACT

PMID:38779936 | PMC:PMC11332450 | DOI:10.2340/1651-226X.2024.31720

Optic Nerve Glioma

Fetched: May 20th, 2024, 2:01am UTC by Marshall Huang

2024 Mar 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Janâ€“.

ABSTRACT

Optic nerve gliomas are benign tumors categorized as pilocytic astrocytomas. They represent a significant portion of primary optic nerve tumors, comprising around half of all cases and 1.5% to 4% of all orbital tumors. Optic nerve gliomas and meningiomas continue to cause diagnostic controversy and pose challenges in understanding their natural course and appropriate treatment strategies, as their natural course is still being established. Treatments for both of these conditions continue to evolve.

The spectrum of primary tumors affecting the optic nerve is rare and encompasses various entities, including optic nerve glioma, malignant optic nerve glioma, optic nerve sheath meningioma, ganglioglioma, and primary lymphoma.

PMID:32491801 | Bookshelf:NBK557878

CDC42BPA::BRAF represents a novel fusion in desmoplastic infantile ganglioglioma/desmoplastic infantile astrocytoma

Fetched: May 15th, 2024, 2:01am UTC by Maria Isabel Barros Guinle

Neurooncol Adv. 2024 Mar 30;6(1):vdae050. doi: 10.1093/noajnl/vdae050. eCollection 2024 Jan-Dec.

NO ABSTRACT

PMID:38741773 | PMC:PMC11089409 | DOI:10.1093/noajnl/vdae050

Incidence and survival characteristics of pediatric ganglioglioma from 2004 to 2018, with focus on infratentorial sites

Fetched: May 14th, 2024, 2:01am UTC by Yongzhen Chen

Neurooncol Pract. 2024 Feb 9;11(3):328-335. doi: 10.1093/nop/npae012. eCollection 2024 Jun.

ABSTRACT

BACKGROUND: Ganglioglioma (GG) is a slow-growing glioneuronal neoplasm, most frequently seen in the supratentorial location in older children and associated with epilepsy syndromes. GG is rare in the infratentorial location, hence we embarked upon analyzing the National Cancer Institute's (NCI) Survival, Epidemiology, and End Results (SEER) database to better evaluate GG outcomes by location in comparison to the broader pediatric low-grade glioma (pLGG) population.

METHODS: Pediatric patients diagnosed with GG and pLGG from 2004 to 2018 were included in the study. Their demographic, clinical, and survival characteristics were analyzed using SEER*Stat.

RESULTS: This study describes the largest cohort of pediatric GG, including 852 cases from year 2004 to 2018, with focus on infratentorial sites. Patients with brainstem GG or those with subtotally resected disease were identified as having higher risk of death.

CONCLUSIONS: Our analysis highlights brainstem GG as a high-risk, poor-prognostic subgroup and elaborates on the incidence and survival characteristic of this lesser-known subgroup.

PMID:38737603 | PMC:PMC11085854 | DOI:10.1093/nop/npae012

Diffuse Gliomas with FGFR3::TACC3 Fusion: Morphological and Molecular Features and Classification Challenges

Fetched: May 12th, 2024, 2:01am UTC by Elena Marastoni

Cancers (Basel). 2024 Apr 25;16(9):1644. doi: 10.3390/cancers16091644.

ABSTRACT

FGFR3::TACC3 fusion is a driver, potentially targetable, genetic alteration identified in approximately 4% of high-grade diffuse gliomas and rare cases with low-grade histology. Herein, we review the genetic and epigenetic features of these tumors and highlight the challenges in their classification and grading. Diffuse gliomas with FGFR3::TACC3 fusion display unique histopathological and molecular features, including an oligodendroglioma-like appearance, calcifications, and CD34 extravascular immunoreactivity. High-grade tumors exhibit molecular alterations and a DNA methylation profile typical of glioblastoma, suggesting that they may represent a subtype clinically characterized by a slightly better prognosis. Tumors with low-grade morphology are genetically and epigenetically heterogeneous. Some, exclusive to adults, have molecular alterations typical of glioblastoma, although most do not match any methylation classes, using version 12.5 of the Heidelberg classifier. Another group, which mostly affects children or adolescents, lacks the molecular features of glioblastoma and has a DNA methylation profile similar to that of low-grade glioneuronal tumors. In conclusion, diffuse gliomas with FGFR3::TACC3 fusion do not constitute a distinct nosological entity, owing to their genetic and epigenetic diversity. Further studies are warranted to clarify the biological aggressiveness of tumors with low-grade histology to refine the grading and determine the optimal treatment strategy.

PMID:38730596 | PMC:PMC11083705 | DOI:10.3390/cancers16091644

Permalink for 'Ganglioglioma with anaplastic/high-grade transformation: Histopathologic, molecular, and epigenetic characterization of 3 cases'

Ganglioglioma with anaplastic/high-grade transformation: Histopathologic, molecular, and epigenetic characterization of 3 cases

Fetched: May 4th, 2024, 2:00am UTC by M Adelita Vizcaino

J Neuropathol Exp Neurol. 2024 May 22;83(6):416-424. doi: 10.1093/jnen/nlae038.

ABSTRACT

Ganglioglioma (GG) with anaplasia (anaplastic ganglioglioma) is a rare and controversial diagnosis. When present, anaplasia involves the glial component of the tumor, either at presentation or at recurrence. To date, most published cases lack molecular characterization. We describe the histologic and molecular features of 3 patients presenting with BRAF p. V600E-mutant GG (CNS WHO grade 1) with high-grade glial transformation at recurrence. The tumors occurred in pediatric patients (age 9-16 years) with time to recurrence from 20 months to 7 years. At presentation, each tumor was low-grade, with a BRAFV600E-positive ganglion cell component and a glial component resembling pleomorphic xanthoastrocytoma (PXA) or fibrillary astrocytoma. At recurrence, tumors resembled anaplastic PXA or high-grade astrocytomas without neuronal differentiation. CDKN2A homozygous deletion (HD) was absent in all primary tumors. At recurrence, 2 cases acquired CDKN2A HD; the third case showed loss of p16 and MTAP immunoexpression, but no CDKN2A/B HD or mutation was identified. By DNA methylation profiling, all primary and recurrent tumors either grouped or definitely matched to different methylation classes. Our findings indicate that malignant progression of the glial component can occur in GG and suggest that CDKN2A/B inactivation plays a significant role in this process.

PMID:38699943 | DOI:10.1093/jnen/nlae038

Imaging manifestations of papillary glioneuronal tumors

Fetched: April 25th, 2024, 2:01am UTC by Xiaodan Du

Neurosurg Rev. 2024 Apr 23;47(1):179. doi: 10.1007/s10143-024-02393-1.

ABSTRACT

To analyse the imaging findings of papillary glioneuronal tumors (PGNTs), in order to improve the accuracy of preoperative diagnosis of this tumor. The clinical and imaging manifestations of 36 cases of PGNT confirmed by pathology were analyzed retrospectively. A total of 17 males and 19 females, averaging 22.47 (Â± 11.23) years. Initial symptoms included epilepsy in ten, headache in seven, and others in 19 cases. 97.2% (35/36) of the lesions were located in the supratentorial area, and 80.5% (29/36) in the intraventricular or deep white matter adjacent to the lateral ventricles. Twenty-four of the lesions (66.7%) were mixed cystic and solid, four (11.1%) were cystic with mural nodules, four (11.1%) were cystic, and four (11.1%) were solid. Four cases of PGNT of cystic imaging showed a "T2-FLAIR mismatch" sign. 69.4% (25/36) had septations. Nine lesions (25%) were accompanied by edema, and 9 (25%) of the mixed cystic and solid lesions were accompanied by hemorrhage. Among the 18 patients who underwent computed tomography (CT) or susceptibility-weighted imaging (SWI), nine had lesions with calcification. PGNTs mostly manifest as cystic mass with mural nodules or mixed cystic and solid mass in the white matter around the supratentorial ventricle, and the cystic part of the lesion is mostly accompanied by septations. Pure cystic lesions may exhibit the sign of "T2-FLAIR mismatch". PGNT is rarely accompanied by edema but sometimes by calcification and hemorrhage. Patients often present with seizures, headaches, and mass effect symptoms.

PMID:38649515 | PMC:PMC11035433 | DOI:10.1007/s10143-024-02393-1

Permalink for 'Multi-pronged analysis of pediatric low-grade glioma reveals a unique tumor microenvironment associated with BRAF alterations'

Multi-pronged analysis of pediatric low-grade glioma reveals a unique tumor microenvironment associated with BRAF alterations

Fetched: April 24th, 2024, 2:01am UTC by Shadi Zahedi

bioRxiv [Preprint]. 2024 Apr 10:2024.04.05.588294. doi: 10.1101/2024.04.05.588294.

ABSTRACT

Pediatric low-grade gliomas (pLGG) comprise 35% of all brain tumors. Despite favorable survival, patients experience significant morbidity from disease and treatments. A deeper understanding of pLGG biology is essential to identify novel, more effective, and less toxic therapies. We utilized single cell RNA sequencing (scRNA-seq), spatial transcriptomics, and cytokine analyses to characterize and understand tumor and immune cell heterogeneity across pLGG. scRNA-seq revealed tumor and immune cells within the tumor microenvironment (TME). Tumor cell subsets revealed a developmental hierarchy with progenitor and mature cell populations. Immune cells included myeloid and lymphocytic cells. There was a significant difference between the prevalence of two major myeloid subclusters between pilocytic astrocytoma (PA) and ganglioglioma (GG). Bulk and single-cell cytokine analyses evaluated the immune cell signaling cascade with distinct immune phenotypes among tumor samples. KIAA1549-BRAF tumors appeared more immunogenic, secreting higher levels of immune cell activators and chemokines, compared to BRAF V600E tumors. Spatial transcriptomics revealed the differential gene expression of these chemokines and their location within the TME. A multi-pronged analysis of pLGG demonstrated the complexity of the pLGG TME and differences between genetic drivers that may influence their response to immunotherapy. Further investigation of immune cell infiltration and tumor-immune interactions is warranted.

KEY POINTS: There is a developmental hierarchy in neoplastic population comprising of both progenitor-like and mature cell types in both PA and GG.A more immunogenic, immune activating myeloid population is present in PA compared to GG. Functional analysis and spatial transcriptomics show higher levels of immune mobilizing chemokines in KIAA1549-BRAF fusion PA tumor samples compared to BRAF V600E GG samples.

IMPORTANCE OF THE STUDY: While scRNA seq provides information on cellular heterogeneity within the tumor microenvironment (TME), it does not provide a complete picture of how these cells are interacting or where they are located. To expand on this, we used a three-pronged approach to better understand the biology of pediatric low-grade glioma (pLGG). By analyzing scRNA-seq, secreted cytokines and spatial orientation of cells within the TME, we strove to gain a more complete picture of the complex interplay between tumor and immune cells within pLGG. Our data revealed a complex heterogeneity in tumor and immune populations and identified an interesting difference in the immune phenotype among different subtypes.

PMID:38645202 | PMC:PMC11030246 | DOI:10.1101/2024.04.05.588294

Letter to the editor: natural history and neuro-oncological approach in spinal gangliogliomas: a systematic review

Fetched: April 24th, 2024, 2:01am UTC by Irving Gabriel Calisaya-Madariaga

Neurosurg Rev. 2024 Apr 20;47(1):173. doi: 10.1007/s10143-024-02399-9.

NO ABSTRACT

PMID:38641764 | DOI:10.1007/s10143-024-02399-9

Infratentorial Relapsing Neuroglial Tumors in Adults: Management and Unsolved Issues-A Systematic Review

Fetched: March 29th, 2024, 2:01am UTC by Lara Brunasso

Brain Sci. 2024 Mar 18;14(3):286. doi: 10.3390/brainsci14030286.

ABSTRACT

(1) Background: Gangliogliomas are rare tumors accounting for about 0.4% of all central nervous system tumors. They are usually located in the temporal lobes of children and young adults, though such tumors in the infratentorial region and adult-age patients rarely reported. (2) Methods: A systematic review on ganglioglioma with infratentorial location in the adult population was conducted in accordance with the PRISMA guidelines. A total of 275 articles were found, and 23 were included. Demographic data, the location and histology of the lesion, pre-operative neurological status, the type of surgery, recurrence, radiotherapy/chemotherapy adjuvant treatments, neurological outcomes and follow-up information were collected. We also presented an illustrative case. (3) Results: A total of 27 patients were included. In 51%, the location was the cerebellum; in 40%, it was the fourth ventricle; in 11%, it was brainstem; and in 4%, it was the cerebellopontine angle. STR was performed in 44%, GTR in 26% and biopsy in 15% of the cases. Adjuvant radiotherapy was found in 22% of cases. Disease recurrence occurred in 15% of patients between 1 and 12 months after surgery with a diagnosis of high-grade ganglioglioma, while in six cases, no disease recurrence was documented. (4) Conclusions: Infratentorial glioneuronal tumors are rare findings in the adult population. Histopathological characterization does not seem to fully reflect their true behavior. Future studies are warranted for better characterizing histopathological findings and treatment.

PMID:38539674 | PMC:PMC10968414 | DOI:10.3390/brainsci14030286

Neuropathology and epilepsy surgery - 2024 update

Fetched: March 28th, 2024, 2:01am UTC by Ingmar BlÃ¼mcke

Free Neuropathol. 2024 Mar 22;5:5-8. doi: 10.17879/freeneuropathology-2024-5347. eCollection 2024 Jan.

ABSTRACT

Neuropathology-based studies in neurosurgically resected brain tissue obtained from carefully examined patients with focal epilepsies remain a treasure box for excellent insights into human neuroscience, including avenues to better understand the neurobiology of human brain organization and neuronal hyperexcitability at the cellular level including glio-neuronal interaction. It also allows to translate results from animal models in order to develop personalized treatment strategies in the near future. A nice example of this is the discovery of a new disease entity in 2017, termed mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy or MOGHE, in the frontal lobe of young children with intractable seizures. In 2021, a brain somatic missense mutation of the galactose transporter SLC35A2 leading to altered glycosylation of lipoproteins in the Golgi apparatus was detected in 50 % of MOGHE samples. In 2023, the first clinical trial evaluated galactose supplementation in patients with histopathologically confirmed MOGHE carrying brain somatic SLC35A2 mutations that were not seizure free after surgery. The promising results of this pilot trial are an example of personalized medicine in the arena of epileptology. Besides this, neuropathological studies of epilepsy samples have revealed many other fascinating results for the main disease categories in focal epilepsies, such as the first deep-learning based classifier for Focal Cortical Dysplasia, or the genomic landscape of cortical malformations showing new candidate genes such as PTPN11, which is associated with ganglioglioma and adverse clinical outcome. This update will also ask why common pathogenic variants accumulate in certain brain regions, e.g., MTOR in the frontal lobe, and BRAF in the temporal lobe. Finally, I will highlight the ongoing discussion addressing commonalities between temporal lobe epilepsy and Alzheimer's disease, the impact of adult neurogenesis and gliogenesis for the initiation and progression of temporal lobe seizures in the human brain as well as the immunopathogenesis of glutamic acid decarboxylase antibody associated temporal lobe epilepsy as a meaningful disease entity. This review will update the reader on some of these fascinating publications from 2022 and 2023 which were selected carefully, yet subjectively, by the author.

PMID:38532826 | PMC:PMC10964794 | DOI:10.17879/freeneuropathology-2024-5347

Clinical characteristics and surgical outcomes of low-grade epilepsy-associated brain tumors

Fetched: March 26th, 2024, 2:01am UTC by Suhui Kuang

Ther Adv Neurol Disord. 2024 Mar 22;17:17562864241237851. doi: 10.1177/17562864241237851. eCollection 2024.

ABSTRACT

BACKGROUND: Low-grade epilepsy-associated brain tumors (LEATs) are found to be the second most common lesion-related epilepsy. Malignant potential of LEATs is very low and the overall survival is good, so the focus of treatment is focused more on seizure outcome rather than oncological prognosis.

OBJECTIVES: This study was conducted to evaluate the risk factors of seizure outcomes after resection in patients with LEATs.

DESIGN: A retrospective study.

METHODS: A retrospective analysis of patients with LEATs who underwent resective surgery in our three epilepsy centers between October 2010 and April 2023 with a minimum follow-up of 1 year. Demography, clinical characters, neurophysiology, and molecular neuropathology were assessed for association with postoperative seizure outcomes at 1-, 2-, and 5-year follow-up. Synthetic minority oversampling technique (SMOTE) algorithm model was performed to handle the imbalance of data distribution. Gaussian NaÃ¯ve Bayes (GNB) algorithms were created as a basis for classifying outcomes according to observation indicators.

RESULTS: A total of 111 patients were enrolled in the cohort. The most common pathology was ganglioglioma (n = 37, 33.3%). The percentage of patients with seizure freedom was 91.0% (101/111) at 1-year follow-up, 87.5% (77/88) at 2-year follow-up, and 79.1% (53/67) at 5-year follow-up. Partial resection had a significantly poor seizure outcome compared to total resection and supratotal resection (p < 0.05). The epileptiform discharge on post-resective intraoperative electrocorticography (ECoG) or postoperative scalp electroencephalography (EEG) were negative factors on postoperative seizure freedom at 1-, 2-, or 5-year follow-ups (p < 0.05). The area under the receiver-operating characteristic curve value of the GNB-SMOTE model was 0.95 (95% CI, 0.876-1.000), 0.892 (95% CI, 0.656-0.934), and 0.786 (95% CI, 0.491-0.937) at 1-, 2-, and 5-year follow-up, respectively.

CONCLUSION: The partial resection, post-resective intraoperative ECoG, and postoperative scalp EEG were valuable indicators of poor seizure outcomes. The utilization of post-resective intraoperative ECoG is beneficial to improve seizure outcomes. Based on the data diversity and completeness of three medical centers, a multivariate correlation analysis model was established based on GNB algorithm.

PMID:38525487 | PMC:PMC10958794 | DOI:10.1177/17562864241237851

Preoperative 11C-Methionine PET-MRI in Pediatric Infratentorial Tumors

Fetched: March 19th, 2024, 2:01am UTC by Pierre-AurÃ©lien Beuriat

Clin Nucl Med. 2024 May 1;49(5):381-386. doi: 10.1097/RLU.0000000000005174. Epub 2024 Mar 15.

ABSTRACT

PURPOSE: MRI is the main imaging modality for pediatric brain tumors, but amino acid PET can provide additional information. Simultaneous PET-MRI acquisition allows to fully assess the tumor and lower the radiation exposure. Although symptomatic posterior fossa tumors are typically resected, the patient management is evolving and will benefit from an improved preoperative tumor characterization. We aimed to explore, in children with newly diagnosed posterior fossa tumor, the complementarity of the information provided by amino acid PET and MRI parameters and the correlation to histopathological results.

PATIENTS AND METHODS: Children with a newly diagnosed posterior fossa tumor prospectively underwent a preoperative 11 C-methionine (MET) PET-MRI. Images were assessed visually and semiquantitatively. Using correlation, minimum apparent diffusion coefficient (ADC min ) and contrast enhancement were compared with MET SUV max . The diameter of the enhancing lesions was compared with metabolic tumoral volume. Lesions were classified according to the 2021 World Health Organization (WHO) classification.

RESULTS: Ten children were included 4 pilocytic astrocytomas, 2 medulloblastomas, 1 ganglioglioma, 1 central nervous system embryonal tumor, and 1 schwannoma. All lesions showed visually increased MET uptake. A negative moderate correlation was found between ADC min and SUV max values ( r = -0.39). Mean SUV max was 3.8 (range, 3.3-4.2) in WHO grade 4 versus 2.5 (range, 1.7-3.0) in WHO grade 1 lesions. A positive moderate correlation was found between metabolic tumoral volume and diameter values ( r = 0.34). There was no correlation between SUV max and contrast enhancement intensity ( r = -0.15).

CONCLUSIONS: Preoperative 11 C-MET PET and MRI could provide complementary information to characterize pediatric infratentorial tumors.

PMID:38498623 | DOI:10.1097/RLU.0000000000005174

Extremely slow-growing cerebellar ganglioglioma in an elderly patient

Fetched: March 15th, 2024, 2:01am UTC by Nao Ohtani

Surg Neurol Int. 2024 Feb 2;15:33. doi: 10.25259/SNI_806_2023. eCollection 2024.

ABSTRACT

BACKGROUND: Gangliogliomas account for 0.4% of primary brain tumors. They mainly occur in the supratentorial compartment and typically affect only children and young adults. We present an especially rare case of cerebellar ganglioglioma in an elderly patient.

CASE DESCRIPTION: A 76-year-old Japanese woman presented with headache and nausea from 1 month previously. She had been diagnosed with a cerebellar tumor in her childhood, but the lesion was asymptomatic at that time, and there was no evidence of an increase in size, so it had been monitored without surgery. At the time of presentation, she had not been examined for approximately ten years. On admission, magnetic resonance imaging indicated a T2 hypertense cyst in the cerebellar vermis. Post-contrast T1 imaging showed an enhanced mural nodule in the cyst. Cerebral angiography showed that none of the vertebral arteries were significant feeders. The tumor was removed through posterior fossa craniotomy. The histopathological diagnosis was ganglioglioma. The patient's headache and nausea improved after surgery.

CONCLUSION: Our patient presented a very rare case of extremely slow-growing elderly ganglioglioma in the cerebellum. In patients with gangliogliomas, long-term follow-up is important because the disease may become symptomatic at an older age.

PMID:38468672 | PMC:PMC10927177 | DOI:10.25259/SNI_806_2023

Natural history and neuro-oncological approach in spinal gangliogliomas: a systematic review

Fetched: February 26th, 2024, 3:01am UTC by Benedito Jamilson AraÃºjo Pereira

Neurosurg Rev. 2024 Feb 26;47(1):93. doi: 10.1007/s10143-024-02327-x.

ABSTRACT

To describe the natural history of spinal gangliogliomas (GG) in order to determine the most appropriate neuro-oncological management. A Medline search for relevant publications up to July 2023 using the key phrase "ganglioglioma spinal" and "ganglioglioma posterior fossa" led to the retrieval of 178 studies. This corpus provided the basis for the present review. As an initial selection step, the following inclusion criteria were adopted: (i) series and case reports on spinal GG; (ii) clinical outcomes were reported specifically for GG; (iii) GG was the only pathological diagnosis for the evaluation of the tumor; (iv) papers written only in English was evaluated; and (v) papers describing each case in the series were included. The World Health Organization (WHO) 2021 grading criteria for gangliogliomas were applied. A total of 107 tumors were evaluated (63 from male patients and 44 from female patients; 1.43 male/1.0 female ratio, mean age 18.34 Â± 15.84 years). The most common site was the cervical spine, accounting for 43 cases (40.18%); GTR was performed in 35 cases (32.71%) and STR in 71 cases (66.35%), while this information was not reported in 1 case (0.94%). 8 deaths were reported (7.47%) involving 2 males (25%) and 6 females (75%) aged 4-78 years (mean 34.27 Â± 18.22) years. GGs located on the spine displayed the same gender ratio as these tumors in general. The most frequent symptom was pain and motor impairment, while the most prevalent location was the cervical spinal cord. GTR of the tumor posed a challenge for neurosurgeons, due to the difficulty of resecting the lesion without damaging the spinal eloquent area, explaining the lower rate of cure for this tumor type.

PMID:38403664 | DOI:10.1007/s10143-024-02327-x

Middle temporal gyrus approach to mesial temporal lobe tumours in children

Fetched: February 24th, 2024, 3:01am UTC by PaweÅ‚ Kowalczyk

Neurol Neurochir Pol. 2024;58(3):292-299. doi: 10.5603/pjnns.96409. Epub 2024 Feb 23.

ABSTRACT

AIM OF THE STUDY: To assess whether the middle temporal gyrus (MTG) approach to mesial temporal lobe (MTL) tumours is an effective procedure for the treatment of epilepsy in children.

CLINICAL RATIONALE FOR THE STUDY: MTL tumours are a common cause of drug-resistant epilepsy in children. There is as yet no consensus regarding their treatment. One possibility is resection via a MTG approach.

MATERIAL AND METHODS: We assessed the medical records of patients treated at the Department of Neurosurgery, Children's Memorial Health Institute,Warsaw, Poland between 2002 and 2020. A prospectively maintained database including clinical, laboratory, and radiographic presentation, as well as pre- and post-operative course, was analysed. Patients with at least a one- -year follow-up were included.

RESULTS: There were 14 patients aged 4-18 years who underwent a MTG approach for a MTL tumour. All presented with epileptic seizure, and none had neurological deficit on admission to hospital. Median follow-up was 2.5 years. Neuronavigation was used to adjust the approach, localise the temporal horn, and achieve radical resection of the tumour and the hippocampus. Gross total resection was performed in all cases. In most patients, histopathological examination revealed ganglioglioma. One patient had transient aphasia. Two patients developed hemiparesis after surgery, which later improved. One of them also experienced visual disturbances. Acute complications were more frequent in younger patients (p = 0.024). In all cases, MRI confirmed complete resection and there was no tumour recurrence during the follow-up period. 13/14 patients remained seizure-free (Engel class I).

CONCLUSIONS AND CLINICAL IMPLICATIONS: The MTG approach to MTL tumours is an effective procedure for the treatment of epilepsy in children. It avoids removal of the lateral temporal lobe and poses only a minor risk of permanent neurological complications.

PMID:38393960 | DOI:10.5603/pjnns.96409

Cerebellar anaplastic ganglioglioma in a septuagenarian

Fetched: February 16th, 2024, 3:01am UTC by Andrew Waack

Radiol Case Rep. 2024 Jan 20;19(4):1472-1475. doi: 10.1016/j.radcr.2024.01.007. eCollection 2024 Apr.

ABSTRACT

Ganglioglioma is a rare neoplasm most common in children and adolescents. It is typically located in the supratentorial compartment, with the temporal lobe being the most common tumor location. Anaplastic ganglioglioma is a WHO grade III ganglioglioma, a rare subtype accounting for a small minority of ganglioglioma cases. Posterior fossa anaplastic ganglioglioma in an adult is incredibly rare; only 3 prior cases have been reported. Only 1 adult anaplastic ganglioglioma in the cerebellum has been reported. We present the second reported adult cerebellar anaplastic ganglioglioma.

PMID:38312752 | PMC:PMC10835114 | DOI:10.1016/j.radcr.2024.01.007

Permalink for '"Hemispheric pilocytic astrocytoma" revisited: A comprehensive clinicopathological and molecular series emphasizing their overlap with other glioneuronal tumors'

"Hemispheric pilocytic astrocytoma" revisited: A comprehensive clinicopathological and molecular series emphasizing their overlap with other glioneuronal tumors

Fetched: February 16th, 2024, 3:01am UTC by Cassandra Mariet

J Neuropathol Exp Neurol. 2024 Jan 19;83(2):115-124. doi: 10.1093/jnen/nlad111.

ABSTRACT

Pilocytic astrocytomas (PA) typically exhibit distinct clinical, radiological, histopathological, and genetic features. DNA-methylation profiling distinguishes PA according to their location (infratentorial, midline, hemispheric, or spinal). In the hemispheric location, distinguishing PA from glioneuronal tumors remains a common diagnostic challenge for neuropathologists. Furthermore, the current version of the DKFZ classifier seems to have difficulty separating them from gangliogliomas. In this study, after central radiological review, we identified a histopathologically defined set of PA (histPA, n = 11) and a cohort of DNA-methylation defined PA (mcPA, n = 11). Nine out of the 11 histPA matched the methylation class of hemispheric PA, whereas 2 cases were classified at the end of the study as dysembryoplastic neuroepithelial tumors. Similarly, the mcPA cohort contained tumors mainly classified as PA (7/11), but 4 cases were classified as glioneuronal. The analysis of the 16 tumors with an integrated diagnosis of PA revealed that they affect mainly children with a wide spectrum of radiological, histopathological (i.e. a predominantly diffuse growth pattern), and genetic characteristics (large range of mitogen-activated protein kinase alterations). Based on these results, we consider hemispheric PA to be different from their counterparts in other locations and to overlap with other glioneuronal tumors, reinforcing the necessity of interpreting all data to obtain an accurate diagnosis.

PMID:38237135 | DOI:10.1093/jnen/nlad111

Permalink for 'Experience in treating children with ocular dyskinesia and hemifacial spasm secondary to pontine tumours adjacent to the fourth ventricle and systematic review'

Experience in treating children with ocular dyskinesia and hemifacial spasm secondary to pontine tumours adjacent to the fourth ventricle and systematic review

Fetched: February 16th, 2024, 3:01am UTC by Yingjie Cai

Childs Nerv Syst. 2024 May;40(5):1349-1360. doi: 10.1007/s00381-024-06280-4. Epub 2024 Jan 16.

ABSTRACT

OBJECTIVE: To investigate the treatment plan and prognosis of children with ocular dyskinesia and hemifacial spasm secondary to pontine tumours adjacent to the fourth ventricle.

METHODS: In this retrospective study, the clinical information of 10 consecutively collected children with ocular dyskinesia and hemifacial spasm secondary to pontine tumours adjacent to the fourth ventricle was analyzed. All 10 children underwent pontine tumour resection through a trans-cerebellomedullary fissure approach; 4 children underwent preoperative diffusion tensor imaging scans to determine the relationship between the tumour and facial nerve nucleus, and the other 6 children underwent intraoperative deep electroencephalography (EEG) tumour monitoring, in which the tumour electrical discharge activity of the tumour was recorded. A voxel distribution map was established to describe the distribution of the tumour location, and patient prognosis was evaluated through clinical and imaging follow-up.

RESULTS: All 10 children achieved total tumour resection; 9 tumours were pathologically suggested to be ganglioglioma (WHO grade I), and 1 was a hamartoma. The symptoms of the original ocular dyskinesia and hemifacial spasm disappeared immediately after the operation. The children were followed up for 4-75 months, and none of the symptoms recurred; four cases with preoperative diffusion tensor imaging showed that the tumour was close to the facial nerve. Four in six intraoperative electrophysiological monitoring showed that the tumour had electrical discharge behaviour, and the tumour distribution map indicates a high density of tumour presence in the facial nerve nucleus and the nucleus of the abducens nerve.

CONCLUSIONS: In paediatric patients, the facial symptoms are related to the location and abnormal electrical discharge of the tumour. There is no significant correlation between ocular dyskinesia and the location of the tumour. Conventional antiepileptic therapy for this disease is ineffective, and early surgical intervention for total tumour resection can achieve a clinical curative effect.

PMID:38227027 | DOI:10.1007/s00381-024-06280-4

Germline BRCA2 pathogenic variants in pediatric ganglioglioma: Case report and review of the literature

Fetched: January 4th, 2024, 3:01am UTC by Anya Gupta

Childs Nerv Syst. 2024 May;40(5):1609-1612. doi: 10.1007/s00381-023-06267-7. Epub 2024 Jan 3.

ABSTRACT

BACKGROUND: BRCA1 and BRCA2 are tumor suppressor genes associated with increased risk of breast and ovarian cancer in adulthood. Patients with germline pathogenic variants in these genes have also been reported to develop brain tumors, although it is unclear whether these syndromes are associated with significant increased risk of brain tumor formation.

RESULTS: Here, we report a case of a child with germline BRCA2 pathogenic variant presenting with a symptomatic ganglioglioma. To our knowledge, this is the first such patient to be reported. We discuss prior cases of brain tumors in BRCA1/2 patients and evidence for a potential role for BRCA1/2 pathogenic variants in brain tumor formation.

CONCLUSION: BRCA2 germline variants may increase the risk of developing some types of pediatric brain tumors, but further study is needed to determine its effect on low-grade glioma formation.

PMID:38168858 | DOI:10.1007/s00381-023-06267-7

Long-term epilepsy associated-tumors (LEATs): what is new?

Fetched: January 3rd, 2024, 3:00am UTC by Sergio Rosemberg

Arq Neuropsiquiatr. 2023 Dec;81(12):1146-1151. doi: 10.1055/s-0043-1777730. Epub 2023 Dec 29.

ABSTRACT

Long-term epilepsy-associated tumors (LEATs) include a series of neoplasms that commonly occur in children, adolescents, or young adults, have an astrocytic or glioneuronal lineage, are histologically benign (WHO grade1) with a neocortical localization predominantly situated in the temporal lobes. Clinically, chronic refractory epilepsy is usually the unique symptom. Gangliogliomas (GG) and dysembryoplastic neuroepithelial tumors (DNT) are the most common representative entities besides pilocytic astrocytomas (PA) and angiocentric gliomas (AG). Recent molecular studies have defined new clinicopathological entities, which are recognized by the WHO 2021 classification of brain tumors. Some of them such as diffuse astrocytoma MIB or MYBL1 altered, polymorphous low-grade neuroepithelial tumor of the young (PLNTY), and multilocular and vacuolating neuronal tumor (MVNT) are currently considered LEATs. The relationship between LEATs and epilepsy is still a matter of debate, and there is a general agreement about the beneficial effects of an early neurosurgical intervention on the clinical outcome.

PMID:38157880 | PMC:PMC10756815 | DOI:10.1055/s-0043-1777730

Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase

Fetched: December 13th, 2023, 3:01am UTC by Anna Maria Buccoliero

Epilepsy Res. 2024 Jan;199:107258. doi: 10.1016/j.eplepsyres.2023.107258. Epub 2023 Nov 21.

ABSTRACT

BACKGROUND: Drug-resistant epilepsy is a common condition in patients with brain neoplasms. The pathogenesis of tumor-associated seizures is poorly understood. Among the possible pathogenetic mechanisms, the increase in glutamate concentration has been proposed. Glutamate transporters, glutamine synthetase and pyruvate carboxylase are involved in maintaining the physiological concentration of glutamate in the intersynaptic spaces. In our previous research on angiocentric gliomas, we demonstrated that all tumors lacked the expression of the main glutamate transporter EAAT2, while the expression of glutamine synthetase and pyruvate carboxylase was mostly preserved.

METHODS: In the present study, we evaluated the immunohistochemical expression of EAAT2, glutamine synthetase and pyruvate carboxylase in a heterogeneous series of 25 long-term epilepsy-associated tumors (10 dysembryoplastic neuroepithelial tumors, 7 gangliogliomas, 3 subependymal giant cell astrocytomas, 3 rosette forming glioneuronal tumors, 1 diffuse astrocytoma MYB- or MYBL1-altered and 1 angiocentric glioma). In order to evaluate the incidence of variants in the SLC1A2 gene, encoding EAAT2, in a large number of central nervous system tumors we also queried the PedcBioPortal.

RESULTS: EAAT2 protein expression was lost in 9 tumors (36 %: 3 dysembryoplastic neuroepithelial tumors, 1 ganglioglioma, 3 subependymal giant cell astrocytomas, 1 diffuse astrocytoma MYB- or MYBL1-altered and 1 angiocentric glioma). Glutamine synthetase protein expression was completely lost in 2 tumors (8 %; 1 ganglioglioma and 1 diffuse astrocytoma MYB- or MYBL1-altered). All tumors of our series but rosette forming glioneuronal tumors (in which neurocytic cells were negative) were diffusely positive for pyruvate carboxylase. Consultation of the PedcBioPortal revealed that of 2307 pediatric brain tumors of different histotype and grade, 20 (< 1%) had variants in the SLC1A2 gene. Among the SLC1A2-mutated tumors, there were no angiocentric gliomas or other LEATs CONCLUSIONS: In conclusion, unlike angiocentric gliomas where the EAAT2 loss is typical and constant, the current study shows the loss of EAAT2 expression only in a fraction of the LEATs. In these cases, we may hypothesize some possible epileptogenic role of the EAAT2 loss. The retained expression of pyruvate carboxylase may contribute to determining a pathological glutamate excess unopposed by glutamine synthetase that resulted expressed to a variable extent in the majority of the tumors. Furthermore, we can assume that the EAAT2 loss in brain tumors in general and in LEATs in particular is more conceivably epigenetic.

PMID:38086219 | DOI:10.1016/j.eplepsyres.2023.107258

Imaging of supratentorial intraventricular masses in children: a pictorial review-part 2

Fetched: December 13th, 2023, 3:01am UTC by Fabricio Guimaraes Goncalves

Neuroradiology. 2024 May;66(5):699-716. doi: 10.1007/s00234-023-03253-3. Epub 2023 Dec 12.

ABSTRACT

PURPOSE: This article is the second in a two-part series aimed at exploring the spectrum of supratentorial intraventricular masses in children. In particular, this part delves into masses originating from cells of the ventricular lining, those within the septum pellucidum, and brain parenchyma cells extending into the ventricles. The aim of this series is to offer a comprehensive understanding of these supratentorial intraventricular masses, encompassing their primary clinical findings and histological definitions.

METHODS: We conducted a review and analysis of relevant epidemiological data, the current genetics/molecular classifications as per the fifth edition of the World Health Organization (WHO) Classification of Tumors of the Central Nervous System (WHO CNS5), and imaging findings. Each supratentorial intraventricular mass was individually evaluated, with a detailed discussion on its clinical and histological features.

RESULTS: This article covers a range of supratentorial intraventricular masses observed in children. These include colloid cysts, subependymal giant cell astrocytomas, ependymomas, gangliogliomas, myxoid glioneuronal tumors, central neurocytomas, high-grade gliomas, pilocytic astrocytomas, cavernous malformations, and other embryonal tumors. Each mass type is characterized both clinically and histologically, offering an in-depth review of their individual imaging characteristics.

CONCLUSION: The WHO CNS5 introduces notable changes, emphasizing the vital importance of molecular diagnostics in classifying pediatric central nervous system tumors. These foundational shifts have significant potential to impact management strategies and, as a result, the outcomes of intraventricular masses in children.

PMID:38085360 | PMC:PMC11031612 | DOI:10.1007/s00234-023-03253-3

Laughter isn't always the best medicine, sometimes it's one of the symptoms

Fetched: December 12th, 2023, 3:01am UTC by Ioana Patricia Bacus

Epilepsy Behav Rep. 2023 Jun 6;23:100609. doi: 10.1016/j.ebr.2023.100609. eCollection 2023.

ABSTRACT

Gelastic seizure is a rare type of seizure characterized by bouts of uncontrolled, stereotyped laughter and often associated with hypothalamic hamartomas. In this case study we review a patient with a low grade ganglioglioma in the temporal lobe, a rare type of brain tumor that commonly causes seizures. The 8-year-old ambidextrous patient presented with seizures starting four days prior to presentation, happening multiple times daily and with each seizure lasting for 5-15 s. The patient's neurological examination was normal between episodes, and VEEG recorded ictal laughing events originating focally from the anterior temporal and/or inferior frontal region. Seizures were stopped with Levetiracetam, however given MRI findings surgical intervention was additionally deemed necessary. MRI head with contrast showed 8 mm nodular enhancing lesion located in the anteroventral portion of the right temporal pole with surrounding edema that extended to the anterior margin of the fusiform gyrus. The patient recovered well from surgery with no neurological deficits, is no longer on any antiseizure medications and remains seizure free at 3-year follow-up.

PMID:37359085 | PMC:PMC10285542 | DOI:10.1016/j.ebr.2023.100609

Permalink for 'A comprehensive analysis of infantile central nervous system tumors to improve distinctive criteria for infant-type hemispheric glioma versus desmoplastic infantile ganglioglioma/astrocytoma'

A comprehensive analysis of infantile central nervous system tumors to improve distinctive criteria for infant-type hemispheric glioma versus desmoplastic infantile ganglioglioma/astrocytoma

Fetched: December 12th, 2023, 3:01am UTC by Arnault TauziÃ¨de-Espariat

Brain Pathol. 2023 Sep;33(5):e13182. doi: 10.1111/bpa.13182. Epub 2023 Jun 22.

ABSTRACT

Recent epigenomic analyses have revealed the existence of a new DNA methylation class (MC) of infant-type hemispheric glioma (IHG). Like desmoplastic infantile ganglioglioma/astrocytoma (DIG/DIA), these tumors mainly affect infants and are supratentorial. While DIG/DIA is characterized by BRAF or RAF1 alterations, IHG has been shown to have receptor tyrosine kinase (RTK) gene fusions (ALK, ROS1, NTRK1/2/3, and MET). However, in this rapidly evolving field, a more comprehensive analysis of infantile glial/glioneuronal tumors including clinical, radiological, histopathological, and molecular data is needed. Here, we retrospectively investigated data from 30 infantile glial/glioneuronal tumors, consecutively compiled from our center. They were analyzed by two experienced pediatric neuroradiologists in consensus, without former knowledge of the molecular data. We also performed a comprehensive clinical, and histopathological examination (including molecular evaluation by next-generation sequencing, RNA sequencing, and fluorescence in situ hybridization [FISH] analyses), as well as DNA methylation profiling for the samples having sufficient material available. The integrative histopathological, genetic, and epigenetic analyses, including t-distributed stochastic neighbor embedding (t-SNE) analyses segregated tumors into 10 DIG/DIA (33.3%), six IHG (20.0%), three gangliogliomas (10.0%), two pleomorphic xanthoastrocytomas (6.7%), two pilocytic astrocytomas (6.7%), two supratentorial ependymomas, ZFTA fusion-positive (6.7%), two supratentorial ependymomas, YAP1 fusion-positive (6.7%), two embryonal tumors with PLAGL2-family amplification (6.7%), and one diffuse low-grade glioma, MAPK-pathway altered. This study highlights the significant differential features, in terms of histopathology (leptomeningeal infiltration, intense desmoplasia and ganglion cells in DIG/DIA and necrosis, microvascular proliferation, and siderophages in IHG), and radiology between DIG/DIA and IHG. Moreover, these results are consistent with the literature data concerning the molecular dichotomy (BRAF/RAF1 alterations vs. RTK genes' fusions) between DIG/DIA and IHG. This study characterized histopathologically and radiologically two additional cases of the novel embryonal tumor characterized by PLAGL2 gene amplification.

PMID:37349135 | PMC:PMC10467037 | DOI:10.1111/bpa.13182

Permalink for 'A unique case of intracranial collision tumor composed of ganglioglioma WHO gr I and supratentorial ependymoma WHO gr III: case-based literature review'

A unique case of intracranial collision tumor composed of ganglioglioma WHO gr I and supratentorial ependymoma WHO gr III: case-based literature review

Fetched: December 12th, 2023, 3:01am UTC by Aleksandra Nedeljkovic

Childs Nerv Syst. 2023 Sep;39(9):2407-2411. doi: 10.1007/s00381-023-06028-6. Epub 2023 Jun 17.

ABSTRACT

PURPOSE: Intracranial collision tumor is a rare entity that represents the coexistence of two histopathological different tumor types in the same area without histological admixture or an intermediate cell population zone. So far, several cases of collision tumors with ganglioglioma as its component have been reported in the literature, while supratentorial ependymoma has never been reported as a collision tumor component. We are presenting a unique case of collision tumor in patient without previous history of head trauma, neurological surgery, radiotherapy, or phakomatosis.

METHODS AND RESULTS: A 17-year-old male with no previous history of head trauma, neurological surgery, radiotherapy, or phakomatosis was presented to our clinic with grand mal seizure. Brain magnetic resonance imaging with gadolinium contrast was done revealing a contrast-enhancing lesion of right frontal lobe closely related to dura, surrounded by perifocal edema. The patient underwent a gross total tumor resection. Histological examination revealed collision tumor with two distinct components: ganglioglioma and supratentorial ependymoma.

CONCLUSION: To our best knowledge, no previous reports of collision tumor composed of ganglioglioma and supratentorial ependymoma in a single patient have been reported. We believe that this report could significantly contribute to further surgical practice as well as to treatment decision for these types of collision tumors.

PMID:37328662 | DOI:10.1007/s00381-023-06028-6

Laser interstitial thermal therapy (LITT) for pediatric patients affected by intracranial tumors

Fetched: December 12th, 2023, 3:01am UTC by Barbara Spacca

Front Neurol. 2023 Apr 20;14:1120286. doi: 10.3389/fneur.2023.1120286. eCollection 2023.

ABSTRACT

INTRODUCTION: The surgical treatment of brain tumors has evolved over time, offering different strategies tailored to patients and their specific lesions. Among these strategies, Laser Interstitial Thermal Therapy (LITT) is one of the most recent advances in pediatric neurooncological surgery, and its results and evolution are still under assessment.

METHODS: We retrospectively analyzed data from six pediatric patients with deep-seated brain tumors treated with LITT at a single center between November 2019 and June 2022. A total of four patients underwent a stereotaxic biopsy during the same operating session. The indications and preparation for LITT, technical issues, clinical and radiological follow-up, impact on quality of life, and oncological treatment are discussed.

RESULTS: The mean patient age eight years (ranging from 2 to 11 years). The lesion was thalamic in four patients, thalamo-peduncular in one, and occipital posterior periventricular in one. In total, two patients had been previously diagnosed with low-grade glioma (LGG). Biopsies revealed LGG in two patients, ganglioglioma grade I in one, and diffuse high-grade glioma (HGG) in one. Postoperatively, two patients presented with transient motor deficits. The mean follow-up period was 17 months (ranging from 5 to 32 months). Radiological follow-up showed a progressive reduction of the tumor in patients with LGG.

CONCLUSION: Laser interstitial thermal therapy is a promising, minimally invasive treatment for deep-seated tumors in children. The results of lesion reduction appear to be relevant in LGGs and continue over time. It can be used as an alternative treatment for tumors located at sites that are difficult to access surgically or where other standard treatment options have failed.

PMID:37153686 | PMC:PMC10157164 | DOI:10.3389/fneur.2023.1120286

Intraventricular ganglioglioma: a rare case report

Fetched: December 12th, 2023, 3:01am UTC by Constantinos Thoma

J Surg Case Rep. 2023 Apr 28;2023(4):rjad235. doi: 10.1093/jscr/rjad235. eCollection 2023 Apr.

ABSTRACT

We report a case of an intraventricular ganglioglioma in a 23-year-old male. The patient presented with a 3-day history of headache and vomiting. Preoperative brain imaging revealed a calcified lesion within the trigone of the right lateral ventricle, with irregular enhancement, causing entrapment of the temporal horn of the lateral ventricle. At surgery, the lesion was haemorrhagic, easily friable and exhibited evidence of a previous recent haemorrhage. Histological and immunohistochemical studies showed a ganglioglioma with World Health Organisation Grade 1 characteristics. Gangliogliomas of the central nervous system are uncommon, and rarely occur in the lateral ventricle.

PMID:37128233 | PMC:PMC10148748 | DOI:10.1093/jscr/rjad235

Permalink for 'Correction to: Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes'

Correction to: Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes

Fetched: December 12th, 2023, 3:01am UTC by Lucas Hoffmann

Acta Neuropathol. 2023 Jun;145(6):851-855. doi: 10.1007/s00401-023-02577-x.

NO ABSTRACT

PMID:37115209 | PMC:PMC10175382 | DOI:10.1007/s00401-023-02577-x

Intraparenchymal Schwannoma of Temporal Lobe: A Case Report and Review of the Literature

Fetched: December 12th, 2023, 3:01am UTC by Sajjad Saghebdoust

Asian J Neurosurg. 2023 Apr 3;18(1):191-195. doi: 10.1055/s-0043-1763525. eCollection 2023 Mar.

ABSTRACT

Intracranial schwannomas (ISs) account for approximately 8% of intracranial tumors, while IS, a rare entity, is responsible for roughly 1% of IS. A 33-year-old man with a 3-month headache and sudden onset seizure was referred to our clinic. Preoperative magnetic resonance imaging revealed a contrast-enhancing mass accompanied by cystic components in the right temporal lobe. Ganglioglioma, metastasis, or glioblastoma multiforme was suspected, and surgery was advised. During surgery, gross total resection of a noninvasive tumor was conducted. Postoperative recovery was uneventful. Based on histopathological examination and confirmatory immunohistochemistry, the intraparenchymal temporal tumor was diagnosed as schwannoma. ISs are extremely scarce brain tumors mainly located on the surface of the brain or adjacent brain ventricles. The definite preoperative diagnosis of schwannoma cannot be readily established due to radiologically indistinguishable features from metastasis and gliomas; however, histopathology and immunohistochemistry are of great assistance. Complete surgical removal is the most preferred treatment alternative with a long-term favorable prognosis without adjuvant and neoadjuvant chemotherapy requirements.

PMID:37056907 | PMC:PMC10089735 | DOI:10.1055/s-0043-1763525

Surgical Pathological Features of Epileptogenic Brain Lesions: Cortical Dysplasia and Tumors

Fetched: December 12th, 2023, 3:01am UTC by Akiyoshi Kakita

Brain Nerve. 2023 Apr;75(4):335-339. doi: 10.11477/mf.1416202335.

ABSTRACT

Cortical dysplasia and tumors are representative brain lesions associated with intractable epilepsy. Focal cortical dysplasia type II is characterized by cortical cytoarchitectural abnormalities, dysmorphic neurons, and balloon cells, and is associated with somatic mutations of mTOR pathway molecules. Glioneuronal and neuronal tumors, including dysembryoplastic neuroepithelial tumor and ganglioglioma, are the major tumor types for the clinical phenotype. Recently, various subtypes and characterizing molecular profiles have been recognized.

PMID:37037504 | DOI:10.11477/mf.1416202335

Ganglioglioma arising in an ovarian teratoma

Fetched: December 12th, 2023, 3:01am UTC by Angela Santoro

Int J Gynecol Cancer. 2023 May 1;33(5):845-847. doi: 10.1136/ijgc-2022-004090.

NO ABSTRACT

PMID:37028806 | DOI:10.1136/ijgc-2022-004090

Role of Stereotactic Radiosurgery in Glial Tumors

Fetched: December 12th, 2023, 3:01am UTC by Kanwaljeet Garg

Neurol India. 2023 Mar-Apr;71(Supplement):S207-S214. doi: 10.4103/0028-3886.373633.

ABSTRACT

Glial tumors are a relatively new indication for stereotactic radiosurgery (SRS). Traditionally, SRS has been considered to be an inadequate treatment for glial tumors as these are diffuse tumors, but SRS is a highly focused treatment. Tumor delineation can be challenging given the diffuse nature of the gliomas. It has been recommended to include the T2/fluid-attenuated inversion recovery (FLAIR) altered signal intensity areas in addition to the contrast enhancing part in the treatment plan of glioblastoma in order to increase the coverage. Some have recommended to include 5 mm margins to cover up for the diffusely infiltrative nature of the glioblastoma. The most common indication of SRS in patients with glioblastoma multiforme is tumor recurrence. SRS has also been used as a boost to the residual tumor or tumor bed after surgical excision before conventional radiotherapy. The addition of bevacizumab has been recently tried along with SRS in patients with recurrent glioblastoma to decrease radiation toxicity. Besides, SRS has also been used in patients with low-grade gliomas following recurrence. Brainstem gliomas, which are usually low-grade gliomas, are another indication for SRS. Outcomes following the use of SRS are comparable with external beam radiotherapy in brainstem gliomas, whereas the risks of radiation-induced complications is less. SRS has also been used in other glial tumors such as gangliogliomas and ependymomas.

PMID:37026354 | DOI:10.4103/0028-3886.373633

Permalink for 'Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes'

Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes

Fetched: December 12th, 2023, 3:01am UTC by Lucas Hoffmann

Acta Neuropathol. 2023 Jun;145(6):815-827. doi: 10.1007/s00401-023-02561-5. Epub 2023 Mar 27.

ABSTRACT

Exome-wide sequencing studies recently described PTPN11 as a novel brain somatic epilepsy gene. In contrast, germline mutations of PTPN11 are known to cause Noonan syndrome, a multisystem disorder characterized by abnormal facial features, developmental delay, and sporadically, also brain tumors. Herein, we performed a deep phenotype-genotype analysis of a comprehensive series of ganglioglioma (GG) with brain somatic alterations of the PTPN11/KRAS/NF1 genes compared to GG with common MAP-Kinase signaling pathway alterations, i.e., BRAFV600E. Seventy-two GG were submitted to whole exome sequencing and genotyping and 84 low grade epilepsy associated tumors (LEAT) to DNA-methylation analysis. In 28 tumours, both analyses were available from the same sample. Clinical data were retrieved from hospital files including disease onset, age at surgery, brain localization, and seizure outcome. A comprehensive histopathology staining panel was available in all cases. We identified eight GG with PTPN11 alterations, copy number variant (CNV) gains of chromosome 12, and the commonality of additional CNV gains in NF1, KRAS, FGFR4 and RHEB, as well as BRAFV600E alterations. Histopathology revealed an atypical glio-neuronal phenotype with subarachnoidal tumor spread and large, pleomorphic, and multinuclear cellular features. Only three out of eight patients with GG and PTPN11/KRAS/NF1 alterations were free of disabling-seizures 2 years after surgery (38% had Engel I). This was remarkably different from our series of GG with only BRAFV600E mutations (85% had Engel I). Unsupervised cluster analysis of DNA methylation arrays separated these tumours from well-established LEAT categories. Our data point to a subgroup of GG with cellular atypia in glial and neuronal cell components, adverse postsurgical outcome, and genetically characterized by complex alterations in PTPN11 and other RAS-/MAP-Kinase and/or mTOR signaling pathways. These findings need prospective validation in clinical practice as they argue for an adaptation of the WHO grading system in developmental, glio-neuronal tumors associated with early onset focal epilepsy.

PMID:36973520 | PMC:PMC10175344 | DOI:10.1007/s00401-023-02561-5

Ganglioglioma deep transcriptomics reveals primitive neuroectoderm neural precursor-like population

Fetched: December 12th, 2023, 3:01am UTC by Joshua A Regal

Acta Neuropathol Commun. 2023 Mar 25;11(1):50. doi: 10.1186/s40478-023-01548-3.

ABSTRACT

Gangliogliomas are brain tumors composed of neuron-like and macroglia-like components that occur in children and young adults. Gangliogliomas are often characterized by a rare population of immature astrocyte-appearing cells expressing CD34, a marker expressed in the neuroectoderm (neural precursor cells) during embryogenesis. New insights are needed to refine tumor classification and to identify therapeutic approaches. We evaluated five gangliogliomas with single nucleus RNA-seq, cellular indexing of transcriptomes and epitopes by sequencing, and/or spatially-resolved RNA-seq. We uncovered a population of CD34+ neoplastic cells with mixed neuroectodermal, immature astrocyte, and neuronal markers. Gene regulatory network interrogation in these neuroectoderm-like cells revealed control of transcriptional programming by TCF7L2/MEIS1-PAX6 and SOX2, similar to that found during neuroectodermal/neural development. Developmental trajectory analyses place neuroectoderm-like tumor cells as precursor cells that give rise to neuron-like and macroglia-like neoplastic cells. Spatially-resolved transcriptomics revealed a neuroectoderm-like tumor cell niche with relative lack of vascular and immune cells. We used these high resolution results to deconvolute clinically-annotated transcriptomic data, confirming that CD34+ cell-associated gene programs associate with gangliogliomas compared to other glial brain tumors. Together, these deep transcriptomic approaches characterized a ganglioglioma cellular hierarchy-confirming CD34+ neuroectoderm-like tumor precursor cells, controlling transcription programs, cell signaling, and associated immune cell states. These findings may guide tumor classification, diagnosis, prognostication, and therapeutic investigations.

PMID:36966348 | PMC:PMC10039537 | DOI:10.1186/s40478-023-01548-3

Permalink for 'Stereo-electroencephalography (SEEG)-Guided Surgery in Epilepsy With Cingulate Gyrus Involvement: Electrode Implantation Strategies and Postoperative Seizure Outcome'

Stereo-electroencephalography (SEEG)-Guided Surgery in Epilepsy With Cingulate Gyrus Involvement: Electrode Implantation Strategies and Postoperative Seizure Outcome

Fetched: December 12th, 2023, 3:01am UTC by Piergiorgio d'Orio

J Clin Neurophysiol. 2023 Sep 1;40(6):516-528. doi: 10.1097/WNP.0000000000001000. Epub 2023 Mar 16.

ABSTRACT

Surgical treatment of cingulate gyrus epilepsy is associated with good results on seizures despite its rarity and challenging aspects. Invasive EEG monitoring is often mandatory to assess the epileptogenic zone in these patients. To date, only small surgical series have been published, and a consensus about management of these complex cases did not emerge. The authors retrospectively analyzed a large surgical series of patients in whom at least part of the cingulate gyrus was confirmed as included in the epileptogenic zone by means of stereo-electroencephalography and was thus resected. One hundred twenty-seven patients were selected. Stereo-electroencephalography-guided implantation of intracerebral electrodes was performed in the right hemisphere in 62 patients (48.8%) and in the left hemisphere in 44 patients (34.7%), whereas 21 patients (16.5%) underwent bilateral implantations. The median number of implanted electrodes per patient was 13 (interquartile range 12-15). The median number of electrodes targeting the cingulate gyrus was 4 (interquartile range 3-5). The cingulate gyrus was explored bilaterally in 19 patients (15%). Complication rate was 0.8%. A favorable outcome (Engel class I) was obtained in 54.3% of patients, with a median follow-up of 60 months. The chance to obtain seizure freedom increased in cases in whom histologic diagnosis was type-IIb focal cortical dysplasia or tumor (mostly ganglioglioma or dysembryoplastic neuroepithelial tumor) and with male gender. Higher seizure frequency predicted better outcome with a trend toward significance. Our findings suggest that stereo-electroencephalography is a safe and effective methodology in achieving seizure freedom in complex cases of epilepsy with cingulate gyrus involvement.

PMID:36930225 | DOI:10.1097/WNP.0000000000001000

Rapid symptomatic improvement in two patients with ganglioglioma after restarting BRAF inhibitor therapy

Fetched: December 12th, 2023, 3:01am UTC by Evan Cantor

Pediatr Blood Cancer. 2023 Jul;70(7):e30296. doi: 10.1002/pbc.30296. Epub 2023 Mar 14.

NO ABSTRACT

PMID:36916822 | PMC:PMC10500853 | DOI:10.1002/pbc.30296

The clinicopathological features of ganglioglioma with CD34 expression and BRAF mutation in patients with epilepsy

Fetched: December 12th, 2023, 3:01am UTC by Ming-Guo Xie

Front Mol Neurosci. 2023 Feb 23;16:1022364. doi: 10.3389/fnmol.2023.1022364. eCollection 2023.

ABSTRACT

OBJECTIVE: The aim of the study was to evaluate the clinicopathological features, as well as the surgical prognosis, of epilepsy-associated gangliogliomas (GG) with CD34 expression and BRAF^V600E mutation.

METHODS: Clinical data of patients who underwent epilepsy surgery for GG were retrospectively studied. Univariate and multivariate analyses were performed to evaluate the correlations of clinical and pathological factors with molecular markers of CD34 expression and BRAF^V600E mutation in GG.

RESULTS: A total of 208 patients with GG had immunohistochemical detection of CD34 expression (positive/negative: 184/24), and among them, 89 patients had immunohistochemical detection of BRAF^V600E mutation (positive/negative: 54/35). By univariate and multivariate analyses, seizure aura (p = 0.025), concordance of ictal electroencephalogram (EEG) findings (p = 0.045) and medial temporal tumor (p = 0.030) were found to be related to CD34 expression, but only hospitalization time (p = 0.042) was different for BRAF-mutated status. In addition, drug-resistant epilepsy (p = 0.040) and concordance of interictal EEG findings (p = 0.009) were found to be associated with tumor progression-free survival (PFS) in univariate analysis, but only concordance of interictal EEG findings was with significance in multivariate analysis. However, CD34 expression or BRAF^V600E mutation in GG was not found to be associated with surgical outcomes of seizure control and tumor PFS.

CONCLUSION: The CD34 expression or BRAF^V600E mutation in GG may partly influence the distribution of clinicopathological features of patients with epilepsy, but they may be not able to predict the surgical prognosis of seizure outcome and tumor recurrence.

PMID:36910263 | PMC:PMC9995901 | DOI:10.3389/fnmol.2023.1022364

Enhancing the Reliability of Intraoperative Ultrasound in Pediatric Space-Occupying Brain Lesions

Fetched: December 12th, 2023, 3:01am UTC by Paolo Frassanito

Diagnostics (Basel). 2023 Mar 3;13(5):971. doi: 10.3390/diagnostics13050971.

ABSTRACT

INTRODUCTION: Intraoperative ultrasound (IOUS) may aid the resection of space-occupying brain lesions, though technical limits may hinder its reliability.

METHODS: IOUS (MyLabTwice^Â®, Esaote, Italy) with a microconvex probe was utilized in 45 consecutive cases of children with supratentorial space-occupying lesions aiming to localize the lesion (pre-IOUS) and evaluate the extent of resection (EOR, post-IOUS). Technical limits were carefully assessed, and strategies to enhance the reliability of real-time imaging were accordingly proposed.

RESULTS: Pre-IOUS allowed us to localize the lesion accurately in all of the cases (16 low-grade gliomas, 12 high-grade gliomas, eight gangliogliomas, seven dysembryoplastic neuroepithelial tumors, five cavernomas, and five other lesions, namely two focal cortical dysplasias, one meningioma, one subependymal giant cell astrocytoma, and one histiocytosis). In 10 deeply located lesions, IOUS with hyperechoic marker, eventually coupled with neuronavigation, was useful to plan the surgical route. In seven cases, the administration of contrast ensured a better definition of the vascular pattern of the tumor. Post-IOUS allowed the evaluation of EOR reliably in small lesions (<2 cm). In large lesions (>2 cm) assessing EOR is hindered by the collapsed surgical cavity, especially when the ventricular system is opened, and by artifacts that may simulate or hide residual tumors. The main strategies to overcome the former limit are inflation of the surgical cavity through pressure irrigation while insonating, and closure of the ventricular opening with Gelfoam before insonating. The strategies to overcome the latter are avoiding the use of hemostatic agents before IOUS and insonating through normal adjacent brain instead of corticotomy. These technical nuances enhanced the reliability of post-IOUS, with a total concordance to postoperative MRI. Indeed, the surgical plan was changed in about 30% of cases, as IOUS showed a residual tumor that was left behind.

CONCLUSION: IOUS ensures reliable real-time imaging in the surgery of space-occupying brain lesions. Limits may be overcome with technical nuances and proper training.

PMID:36900115 | PMC:PMC10000977 | DOI:10.3390/diagnostics13050971

Primary spinal intramedullary anaplastic ganglioglioma in a pediatric patient

Fetched: December 12th, 2023, 3:01am UTC by Huy Dang

Surg Neurol Int. 2023 Feb 17;14:55. doi: 10.25259/SNI_825_2022. eCollection 2023.

ABSTRACT

BACKGROUND: Gangliogliomas (GGs) are rare tumors of the central nervous system composed of neoplastic neural and glial cells and are typically low-grade. Intramedullary spinal anaplastic GGs (AGG) are rare, poorly understood, and often aggressive tumors that can result in widespread progression along the craniospinal axis. Due to the rarity of these tumors, data are lacking to guide clinical and pathologic diagnosis and standard of care treatment. Here, we present a case of pediatric spinal AGG to provide information on our institutional approach to work-up and to highlight unique molecular pathology.

CASE DESCRIPTION: A 13-year-old female presented with signs of spinal cord compression including right sided hyperreflexia, weakness, and enuresis. Magnetic resonance imaging (MRI) revealed a C3-C5 cystic and solid mass which was treated surgically with osteoplastic laminoplasty and tumor resection. Histopathologic diagnosis was consistent with AGG, and molecular testing identified mutations in H3F3A (K27M), TP53, and NF1. She received adjuvant radiation therapy and her neurological symptoms improved. However, at 6-month follow-up, she developed new symptoms. MRI revealed metastatic recurrence of tumor with leptomeningeal and intracranial spread.

CONCLUSION: Primary spinal AGGs are rare tumors, but a growing body of literature shows some trends that may improve diagnosis and management. These tumors generally present in adolescence and early adulthood with motor/sensory impairment and other spinal cord symptoms. They are most commonly treated by surgical resection but frequently recur due to their aggressive nature. Further reports of these primary spinal AGGs along with characterization of their molecular profile will be important in developing more effective treatments.

PMID:36895253 | PMC:PMC9990802 | DOI:10.25259/SNI_825_2022

Permalink for 'DNA methylation-based classification of glioneuronal tumours synergises with histology and radiology to refine accurate molecular stratification'

DNA methylation-based classification of glioneuronal tumours synergises with histology and radiology to refine accurate molecular stratification

Fetched: December 12th, 2023, 3:01am UTC by Thomas J Stone

Neuropathol Appl Neurobiol. 2023 Apr;49(2):e12894. doi: 10.1111/nan.12894.

ABSTRACT

AIMS: Glioneuronal tumours (GNTs) are poorly distinguished by their histology and lack robust diagnostic indicators. Previously, we showed that common GNTs comprise two molecularly distinct groups, correlating poorly with histology. To refine diagnosis, we constructed a methylation-based model for GNT classification, subsequently evaluating standards for molecular stratification by methylation, histology and radiology.

METHODS: We comprehensively analysed methylation, radiology and histology for 83 GNT samples: a training cohort of 49, previously classified into molecularly defined groups by genomic profiles, plus a validation cohort of 34. We identified histological and radiological correlates to molecular classification and constructed a methylation-based support vector machine (SVM) model for prediction. Subsequently, we contrasted methylation, radiological and histological classifications in validation GNTs.

RESULTS: By methylation clustering, all training and 23/34 validation GNTs segregated into two groups, the remaining 11 clustering alongside control cortex. Histological review identified prominent astrocytic/oligodendrocyte-like components, dysplastic neurons and a specific glioneuronal element as discriminators between groups. However, these were present in only a subset of tumours. Radiological review identified location, margin definition, enhancement and T2 FLAIR-rim sign as discriminators. When validation GNTs were classified by SVM, 22/23 classified correctly, comparing favourably against histology and radiology that resolved 17/22 and 15/21, respectively, where data were available for comparison.

CONCLUSIONS: Diagnostic criteria inadequately reflect glioneuronal tumour biology, leaving a proportion unresolvable. In the largest cohort of molecularly defined glioneuronal tumours, we develop molecular, histological and radiological approaches for biologically meaningful classification and demonstrate almost all cases are resolvable, emphasising the importance of an integrated diagnostic approach.

PMID:36843390 | DOI:10.1111/nan.12894

Clinical, histological, and molecular features of gliomas in adults with neurofibromatosis type 1

Fetched: December 12th, 2023, 3:01am UTC by Carlos G Romo

Neuro Oncol. 2023 Aug 3;25(8):1474-1486. doi: 10.1093/neuonc/noad033.

ABSTRACT

BACKGROUND: People with NF1 have an increased prevalence of central nervous system malignancy. However, little is known about the clinical course or pathologic features of NF1-associated gliomas in adults, limiting clinical care and research.

METHODS: Adults (â‰¥18 years) with NF1 and histologically confirmed non-optic pathway gliomas (non-OPGs) at Johns Hopkins Hospital, Memorial Sloan Kettering Cancer Center, and Washington University presenting between 1990 and 2020 were identified. Retrospective data were collated, and pathology was reviewed centrally.

RESULTS: Forty-five patients, comprising 23 females (51%), met eligibility criteria, with a median of age 37 (18-68 years) and performance status of 80% (30%-100%). Tissue was available for 35 patients. Diagnoses included infiltrating (low-grade) astrocytoma (9), glioblastoma (7), high-grade astrocytoma with piloid features (4), pilocytic astrocytoma (4), high-grade astrocytoma (3), WHO diagnosis not reached (4) and one each of gliosarcoma, ganglioglioma, embryonal tumor, and diffuse midline glioma. Seventy-one percent of tumors were midline and underwent biopsy only. All 27 tumors evaluated were IDH1-wild-type, independent of histology. In the 10 cases with molecular testing, the most common genetic variants were NF1, EGFR, ATRX, CDKN2A/B, TP53, TERT, and MSH2/3 mutation. While the treatments provided varied, the median overall survival was 24 months [2-267 months] across all ages, and 38.5 [18-109] months in individuals with grade 1-2 gliomas.

CONCLUSIONS: Non-OPGs in adults with NF1, including low-grade tumors, often have an aggressive clinical course, indicating a need to better understand the pathobiology of these NF1-associated gliomas.

PMID:36840626 | PMC:PMC10398805 | DOI:10.1093/neuonc/noad033

Intramedullary Spinal Cord Tumors

Fetched: December 12th, 2023, 3:01am UTC by Joe M Das

2024 Jun 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Janâ€“.

ABSTRACT

Spinal tumors comprise about 15% of all tumors in the central nervous system. These tumors are typically benign and cause symptoms primarily by compressing the spinal cord and nerves. Spinal tumors can be classified into 3 groups based on their locationsâ€”extradural, intradural-extramedullary, and intramedullary.

Extradural tumors are the most common type, occupying the vertebral body or structures outside the dura. This type of tumor is the most commonly associated with metastasis. Intradural extramedullary tumors, the second most common type, originate from the leptomeninges or nerve roots. These tumors are located inside the dura but external to the spinal cord, such as meningiomas or neurofibromas. The least common spinal cord tumors are intramedullary spinal cord tumors, comprising 20 to 30% of all intradural primary tumors and only 2 to 5% of all spinal cord tumors. Intramedullary spinal cord tumors arise from the spinal cord parenchyma, most commonly from glial tissue, and lead to invasion and destruction of adjacent gray and white matter. Ependymomas and astrocytomas are the most commonly encountered intramedullary spinal cord tumors, followed by hemangioblastomas. Other entities include lipomas, germ cell tumors, gangliogliomas, germinomas, lymphomas, and metastases.

PMID:28723060 | Bookshelf:NBK442031

Permalink for 'A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation'

A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation

Fetched: December 10th, 2023, 3:01am UTC by Lucie Auffret

Acta Neuropathol. 2023 Dec 8;147(1):2. doi: 10.1007/s00401-023-02651-4.

ABSTRACT

Diffuse midline gliomas (DMG) H3 K27-altered are incurable grade 4 gliomas and represent a major challenge in neuro-oncology. This tumour type is now classified in four subtypes by the 2021 edition of the WHO Classification of the Central Nervous System (CNS) tumours. However, the H3.3-K27M subgroup still appears clinically and molecularly heterogeneous. Recent publications reported that rare patients presenting a co-occurrence of H3.3K27M with BRAF or FGFR1 alterations tended to have a better prognosis. To better study the role of these co-driver alterations, we assembled a large paediatric and adult cohort of 29 tumours H3K27-altered with co-occurring activating mutation in BRAF or FGFR1 as well as 31 previous cases from the literature. We performed a comprehensive histological, radiological, genomic, transcriptomic and DNA methylation analysis. Interestingly, unsupervised t-distributed Stochastic Neighbour Embedding (tSNE) analysis of DNA methylation profiles regrouped BRAF^V600E and all but one FGFR1^MUT DMG in a unique methylation cluster, distinct from the other DMG subgroups and also from ganglioglioma (GG) or high-grade astrocytoma with piloid features (HGAP). This new DMG subtype harbours atypical radiological and histopathological profiles with calcification and/or a solid tumour component both for BRAF^V600E and FGFR1^MUT cases. The analyses of a H3.3-K27M BRAF^V600E tumour at diagnosis and corresponding in vitro cellular model showed that mutation in H3-3A was the first event in the oncogenesis. Contrary to other DMG, these tumours occur more frequently in the thalamus (70% for BRAF^V600E and 58% for FGFR1^MUT) and patients have a longer overall survival with a median above three years. In conclusion, DMG, H3 K27 and BRAF/FGFR1 co-altered represent a new subtype of DMG with distinct genotype/phenotype characteristics, which deserve further attention with respect to trial interpretation and patient management.

PMID:38066305 | PMC:PMC10709479 | DOI:10.1007/s00401-023-02651-4

Permalink for 'Is intraoperative electrocorticography (ECoG) for long-term epilepsy-associated tumors (LEATs) more useful in children?-A Randomized Controlled Trial'

Is intraoperative electrocorticography (ECoG) for long-term epilepsy-associated tumors (LEATs) more useful in children?-A Randomized Controlled Trial

Fetched: November 28th, 2023, 3:01am UTC by Sreenath Prabha Rajeev

Childs Nerv Syst. 2024 Mar;40(3):839-854. doi: 10.1007/s00381-023-06216-4. Epub 2023 Nov 27.

ABSTRACT

OBJECTIVES: The utility of intraoperative electrocorticography (ECoG)-guided resective surgery for pediatric long-term epilepsy-associated tumors (LEATs) with antiseizure medication (ASM) resistant epilepsy is not supported by robust evidence. As epilepsy networks and their ramifications are different in children from those in adults, the impact of intraoperative ECoG-based tailored resections in predicting prognosis and influencing outcomes may also differ. We evaluated this hypothesis by comparing the outcomes of resections with and without the use of ECoG in children and adults by a randomized study.

METHODS: From June 2020 to January 2022, 42 patients (17 children and 25 adults) with LEATs and antiseizure medication (ASM)-resistant epilepsy were randomly assigned to one of the 2 groups (ECoG or no ECoG), prior to surgical resection. The 'no ECoG' arm underwent gross total lesion resection (GTR) without ECoG guidance and the ECoG arm underwent GTR with ECoG guidance and further additional tailored resections, as necessary. Factors evaluated were tumor location, size, lateralization, seizure duration, preoperative antiepileptic drug therapy, pre- and postresection ECoG patterns and tumor histology. Postoperative Engel score and adverse event rates were compared in the pediatric and adult groups of both arms. Eloquent cortex lesions and re-explorations were excluded to avoid confounders.

RESULTS: Forty-two patients were included in the study of which 17 patients were in the pediatric cohort (age < 18 years) and 25 in the adult cohort. The mean age in the pediatric group was 11.11 years (SD 4.72) and in the adult group was 29.56 years (SD 9.29). The mean duration of epilepsy was 9.7 years (SD 4.8) in the pediatric group and 10.96 (SD 8.8) in the adult group. The ECoG arm of LEAT resections had 23 patients (9 children and 14 adults) and the non-ECoG arm had 19 patients (8 children and 11 adults). Three children and 3 adults from the ECoG group further underwent ECoG-guided tailored resections (average 1.33 additional tailored resections/per patient.).The histology of the tailored resection specimen was unremarkable in 3/6 (50%).Overall, the commonest histology in both groups was ganglioglioma and the temporal lobe, the commonest site of the lesion. 88.23% of pediatric cases (n = 15/17) had an excellent outcome (Engel Ia) following resection, compared to 84% of adult cases (n = 21/25) at a mean duration of follow-up of 25.76 months in children and 26.72 months in adults (p = 0.405).There was no significant difference in seizure outcomes between the ECoG and no ECoG groups both in children and adults, respectively (p > 0.05). Additional tailored resection did not offer any seizure outcome benefit when compared to the non-tailored resections.

CONCLUSIONS: The use of intraoperative electrocorticography in LEATs did not contribute to postoperative seizure outcome benefit in children and adults. No additional advantage or utility was offered by ECoG in children when compared to its use in adults. ECoG-guided additional tailored resections did not offer any additional seizure outcome benefit both in children and adults.

PMID:38010434 | DOI:10.1007/s00381-023-06216-4

Ganglioglioma cells potentiate neuronal network synchronicity and elicit burst discharges via released factors

Fetched: November 27th, 2023, 3:01am UTC by Philipp MÃ¼ller

Neurobiol Dis. 2024 Jan;190:106364. doi: 10.1016/j.nbd.2023.106364. Epub 2023 Nov 24.

ABSTRACT

Gangliogliomas (GGs) represent the most frequent glioneuronal tumor entity associated with chronic recurrent seizures; rare anaplastic GGs variants retain the glioneuronal character. So far, key mechanisms triggering chronic hyperexcitability in the peritumoral area are unresolved. Based on a recent mouse model for anaplastic GG (BRAF^V600E, mTOR activation and Trp53^KO) we here assessed the influence of GG-secreted factors on non-neoplastic cells in-vitro. We generated conditioned medium (CM) from primary GG cell cultures to developing primary cortical neurons cultured on multielectrode-arrays and assessed their electrical activity in comparison to neurons incubated with naÃ¯ve and neuronal CMs. Our results showed that the GG CM, while not affecting the mean firing rates of networks, strongly accelerated the formation of functional networks as indicated increased synchrony of firing and burst activity. Washing out the GG CM did not reverse these effects indicating an irreversible effect on the neuronal network. Mass spectrometry analysis of GG CM detected several enriched proteins associated with neurogenesis as well as gliogenesis, including Gap43, App, Apoe, S100a8, Tnc and Sod1. Concomitantly, immunocytochemical analysis of the neuronal cultures exposed to GG CM revealed abundant astrocytes suggesting that the GG-secreted factors induce astroglial proliferation. Pharmacological inhibition of astrocyte proliferation only partially reversed the accelerated network maturation in neuronal cultures exposed to GG CM indicating that the GG CM exerts a direct effect on the neuronal component. Taken together, we demonstrate that GG-derived paracrine signaling alone is sufficient to induce accelerated neuronal network development accompanied by astrocytic proliferation. Perspectively, a deeper understanding of factors involved may serve as the basis for future therapeutic approaches.

PMID:38008342 | DOI:10.1016/j.nbd.2023.106364

Permalink for 'Adult cerebral high-grade glioneuronal tumor with perivascular or pseudopapillary growth co-existing with low-grade tumor: a case report'

Adult cerebral high-grade glioneuronal tumor with perivascular or pseudopapillary growth co-existing with low-grade tumor: a case report

Fetched: November 17th, 2023, 3:01am UTC by Masayuki Shintaku

Int J Clin Exp Pathol. 2023 Oct 15;16(10):294-302. eCollection 2023.

ABSTRACT

An unusual, small cell-predominant, high-grade glioneuronal tumor in the occipital lobe of a 49-year-old man that co-existed with a low-grade tumor is reported. The tumor consisted of two distinct components: the major component was a dense proliferation of primitive small cells showing bidirectional neuronal and glial differentiation; and the minor component consisted of a proliferation of well-differentiated astrocytes intermingled with mature neuronal cells. In the former component, perivascular pseudorosette-like or pseudopapillary growth reminiscent of ependymoma or papillary glioneuronal tumor (PGNT), respectively, was prominent, and hypertrophic astrocytic cells were located just outside the central blood vessels. Small cells were immunoreactive for Olig2, synaptophysin, and, less frequently, for glial fibrillary acidic protein. The low-grade component included Rosenthal fibers, hemosiderin deposition, and perivascular lymphocytic infiltration, thus closely resembling ganglioglioma. Cytogenetic studies did not demonstrate any mutations or rearrangements of the genes IDH1, IDH2, H3F3A, BRAF, FGFR1, or TERT promoter. The tumor recurred and spread along the ventricular surface three years after total removal. The small cell-predominant, high-grade component was considered to have evolved from the ganglioglioma-like, low-grade component. The histopathologic resemblance of the high-grade component to PGNT was a special feature.

PMID:37970335 | PMC:PMC10641370

SJ901: Evaluation of Mirdametinib in Children, Adolescents, and Young Adults With Low-Grade Glioma

Posted: June 11th, 2021, 11:00pm UTC

Conditions: Low-Grade Glioma; Recurrent Low-Grade Glioma; Progressive Low-Grade Glioma
Interventions: Drug: Mirdametinib
Sponsors: St. Jude Children's Research Hospital; SpringWorks Therapeutics, Inc.
Recruiting

Evaluation of Hippocampal-Avoidance Using Proton Therapy in Low-Grade Glioma

Posted: August 22nd, 2019, 11:00pm UTC

Conditions: Glioma; Pilocytic Astrocytoma; Pilomyxoid Astrocytoma; Pleomorphic Xanthoastrocytoma; Ganglioglioma; Optic Pathway Glioma; Diffuse Astrocytoma
Interventions: Radiation: Hippocampal-avoidance proton therapy
Sponsors: St. Jude Children's Research Hospital
Recruiting

Pediatric Long-Term Follow-up and Rollover Study

Posted: June 5th, 2019, 11:00pm UTC

Conditions: Diffuse Astrocytoma; Anaplastic Astrocytoma; Astrocytoma; Oligodendroglioma, Childhood; Anaplastic Oligodendroglioma; Glioblastoma; Pilocytic Astrocytoma; Giant Cell Astrocytoma; Pleomorphic Xanthoastrocytoma; Anaplastic Pleomorphic Xanthoastrocytoma; Angiocentric Glioma; Chordoid Glioma of Third Ventricle; Gangliocytoma; Ganglioglioma; Anaplastic Ganglioglioma; Dysplastic Gangliocytoma of Cerebrellum; Desmoplastic Infantile Astrocytoma and Ganglioglioma; Papillary Glioneuronal Tumor; Rosette-forming Glioneuronal Tumor; Central Neurocytoma; Extraventricular Neurocytoma; Cerebellar Liponeurocytoma; Neurofibromatosis Type 1
Interventions: Drug: dabrafenib; Drug: trametinib
Sponsors: Novartis Pharmaceuticals
Active, not recruiting

Dabrafenib Combined With Trametinib After Radiation Therapy in Treating Patients With Newly-Diagnosed High-Grade Glioma

Posted: April 18th, 2019, 11:00pm UTC

Conditions: Anaplastic Astrocytoma; Anaplastic Astrocytoma, Not Otherwise Specified; Anaplastic Ganglioglioma; Anaplastic Pleomorphic Xanthoastrocytoma; Glioblastoma; Malignant Glioma; WHO Grade 3 Glioma
Interventions: Procedure: Biospecimen Collection; Drug: Dabrafenib Mesylate; Procedure: Lumbar Puncture; Procedure: Magnetic Resonance Imaging; Radiation: Radiation Therapy; Drug: Trametinib Dimethyl Sulfoxide
Sponsors: National Cancer Institute (NCI)
Recruiting

Social Determinants of Health in Glioblastoma Population

Posted: April 3rd, 2019, 11:00pm UTC

Conditions: Glioma; Astrocytoma; Oligodendroglioma; Ependymoma; Ganglioglioma; Pleomorphic Xanthoastrocytoma
Interventions: Other: Part 1 Survey Group; Other: Part 2 Focus Group
Sponsors: Wake Forest University Health Sciences
Completed

A Study of the Treatment of Recurrent Malignant Glioma With rQNestin34.5v.2

Posted: May 15th, 2017, 11:00pm UTC

Conditions: Malignant Glioma of Brain; Astrocytoma; Malignant Astrocytoma; Oligodendroglioma; Anaplastic Oligodendroglioma of Brain (Diagnosis); Mixed Oligo-Astrocytoma; Ependymoma; Ganglioglioma; Pylocytic/Pylomyxoid Astrocytoma; Brain Tumor; Glioma; Brain Cancer; Glioblastoma; Glioblastoma Multiforme
Interventions: Drug: rQNestin; Drug: Cyclophosphamide; Procedure: Stereotactic biopsy
Sponsors: Dana-Farber Cancer Institute; National Institutes of Health (NIH); Candel Therapeutics, Inc.
Recruiting

$Permalink for 'Study of Efficacy and Safety of Dabrafenib in Combination With Trametinib in Pediatric Patients With BRAF V600 Mutation Positive LGG or Relapsed or Refractory HGG Tumors'$

Study of Efficacy and Safety of Dabrafenib in Combination With Trametinib in Pediatric Patients With BRAF V600 Mutation Positive LGG or Relapsed or Refractory HGG Tumors

Posted: February 17th, 2016, 1:00am UTC

Conditions: Diffuse Astrocytoma; Anaplastic Astrocytoma; Astrocytoma; Oligodendroglioma, Childhood; Anaplastic Oligodendroglioma; Glioblastoma; Pilocytic Astrocytoma; Giant Cell Astrocytoma; Pleomorphic Xanthoastrocytoma; Anaplastic Pleomorphic Xanthoastrocytoma; Angiocentric Glioma; Chordoid Glioma of Third Ventricle; Gangliocytoma; Ganglioglioma; Anaplastic Ganglioglioma; Dysplastic Gangliocytoma of Cerebrellum; Desmoplastic Infantile Astrocytoma and Ganglioglioma; Papillary Glioneuronal Tumor; Rosette-forming Glioneurona Tumor; Central Neurocytoma; Extraventricular Neurocytoma; Cerebellar Iponeurocytoma
Interventions: Drug: Dabrafenib; Drug: trametinib; Drug: Carboplatin; Drug: Vincristine
Sponsors: Novartis Pharmaceuticals
Completed

Cerebral venous thrombosis: an unanticipated consequence of unilateral internal jugular vein ligation

Fetched: October 16th, 2024, 2:01am UTC by Areej Moideen

BMJ Case Rep. 2024 Oct 14;17(10):e261523. doi: 10.1136/bcr-2024-261523.

ABSTRACT

Retrograde cerebral venous thrombosis (CVT) is a rare complication following internal jugular vein (IJV) ligation. The patient described in this report is a male in his 30s with locally advanced carcinoma tongue. He underwent near-total glossectomy and bilateral neck dissection. Due to heavy nodal burden, his right IJV had to be sacrificed. The patient presented with features of raised intracranial pressure (ICP) postoperatively. Magnetic resonance venogram of the brain revealed CVT involving sigmoid and transverse sinus. This case report describes a perplexing case of right-sided IJV ligation giving rise to CVT, resulting in raised ICP. Although the contralateral cerebral venous system was found to be normal, it failed to compensate for the obstructed outflow on the affected side. In this case report, we have elucidated the possible mechanism for the development of raised ICP and described the management in the light of existing evidence.

PMID:39406452 | DOI:10.1136/bcr-2024-261523

Surgical Treatment and Clinical Evaluation of Calvarial Metastases

Fetched: October 16th, 2024, 2:01am UTC by Jiahua Zhou

J Craniofac Surg. 2024 Oct 15. doi: 10.1097/SCS.0000000000010750. Online ahead of print.

ABSTRACT

BACKGROUND: The aim of this study is to explore surgical treatment techniques and clinical attributes associated with calvarial metastases, while providing a comprehensive review of the treatment experiences relevant to this particular type of tumor.

METHODS: This study involves a retrospective analysis of clinical data from 12 patients diagnosed with calvarial metastatic tumors who underwent surgical intervention. Among these patients, 5 had a history of previous malignant tumor resections, while 7 presented with calvarial metastatic tumors as their initial symptom. In all cases, the surgical approach consisted of calvarial tumor resection followed by titanium mesh repair. Following the surgical intervention, all patients underwent a comprehensive course of treatment, encompassing both local radiotherapy and systemic chemotherapy.

RESULTS: In 1 instance, a patient presented with multiple tumors located in the central area of the frontal bone and the right temporal bone. The larger tumor situated in the middle of the frontal bone was surgically excised, while the tumor in the right temporal bone was treated using radiotherapy. In 2 cases characterized by multiple metastases within the skull, a comprehensive excision of all tumors was accomplished in a single surgical procedure. In the remaining cases featuring a solitary metastatic growth, the respective tumors were surgically removed. There were 10 instances of dura mater invasion and 3 cases involving the invasion of brain tissue. Pathologic examinations revealed 1 case of metastatic lung adenocarcinoma, 1 case of metastatic paraganglioma, 1 case of metastatic hepatocellular carcinoma, 2 cases of metastatic thyroid carcinoma, and 7 cases of metastatic clear cell renal cell carcinoma. Throughout the follow-up period, spanning from 14 to 90 months, various outcomes were noted. These included three occurrences of in situ recurrence. In addition, 1 patient required 3 distinct surgical interventions, while 2 other patients underwent 2 separate surgical procedures each. Notably, 1 of these cases involved the exposure of the titanium mesh on the scalp, necessitating the removal of the titanium mesh. Regrettably, there have been 9 recorded fatalities among the patients, while 3 individuals have survived.

CONCLUSION: Solitary metastasis of calvarium region is rare, and surgical resection is effective. However, it is necessary to extend the resection range and combine with local radiotherapy to avoid local recurrence. Surgical intervention can significantly enhance the quality of life for affected patients. The prognosis of the patients mainly depends on the treatment of the primary disease and the situation of important organ dissemination and treatment.

PMID:39404601 | DOI:10.1097/SCS.0000000000010750

Cerebral arterial air embolism after esophageal stenting for recurrence of gastroesophageal junction cancer: a case report

Fetched: October 16th, 2024, 2:01am UTC by Susumu Saigusa

Int Cancer Conf J. 2024 Aug 6;13(4):460-467. doi: 10.1007/s13691-024-00710-5. eCollection 2024 Oct.

ABSTRACT

Cerebral arterial air embolism (CAE) is a rare complication after esophageal stenting, but it can be life-threatening. It is especially a concern for those with a history of previous gastrointestinal cancer therapies. We report a case of CAE after esophageal stenting in a patient with recurrent gastroesophageal junction cancer and a history of multiple cancer treatments. A 71 year-old man with a history of a proximal gastrectomy, resection of the lower esophagus, chemotherapy, and radiation presented to our hospital 2 weeks after stenting with epigastric and back pain. Mediastinitis was suspected and conservative treatment was begun. The patient suddenly developed altered mental status, left hemiplegia, and anisocoria after drinking water. A brain computed tomography (CT) revealed right-sided predominance of multifocal CAE. Chest and abdominal CT showed a hematoma in the gastric and duodenal wall and an intraluminal hematoma from the esophagus, around the stent, to the upper ileum. CAE was thought to be due to rupture of the recurrent tumor. Unfortunately, despite intensive care, the patient died about 5 h after the onset of neurological symptoms. It has been reported that prior treatments, such as chemotherapy and radiotherapy, increase the risk of life-threatening adverse events, including CAE after esophageal stenting. Clinicians should keep in mind the possibility of CAE after esophageal stenting in patients with a history of multiple cancer treatments.

PMID:39398936 | PMC:PMC11464815 | DOI:10.1007/s13691-024-00710-5

General characteristics of orbital metastasis in breast cancer: a narrative review of case reports

Fetched: October 16th, 2024, 2:01am UTC by Tahereh Zarei

Int Cancer Conf J. 2024 Jul 2;13(4):326-335. doi: 10.1007/s13691-024-00697-z. eCollection 2024 Oct.

ABSTRACT

Breast-cancer metastasis has seen an increased incidence in recent years, owing to advancements in surveillance, diagnostic imaging, histopathological assessment, and treatment modalities. Metastasis to various sites, including the bone, lung, liver, and brain, is common in cancer patients. Orbital metastasis (OM) from breast cancer can lead to a range of symptoms, such as pain, palpebral ptosis, diplopia, ocular pain, vision loss, and a recessed eyeball. To explore the topic of systemic malignancies metastasizing to the orbit, a search was conducted on the PubMed service using keywords such as "orbit," "orbital," "cancer," "malignancy," and "metastasis." This review article aims to summarize the findings from the identified literature. Overall, 103 patients with breast cancer from 77 articles were investigated. The patients' mean age Â± standard deviation was 58.73 Â± 11.86 years. Types of breast pathology observed in the evaluated patients included lobular (32.1%), ductal pathology (35.9%), and unspecified (32%). The most common symptom was vision change 37.9% and diplopia 26.2%. Despite the rarity of OM in breast cancer, it is crucial to consider this condition due to its potential to exacerbate the functional status of the neoplastic disease. The primary treatment approach for orbital metastasis involves radiation therapy, often combined with systemic chemotherapy, hormone therapy or targeted therapy. These interventions aim to minimize symptoms and control disease progression. It is encouraging that advancements in medication, along with timely diagnosis and treatment, have the potential to improve outcomes for patients with orbital metastasis. However, further research is necessary to comprehensively evaluate all aspects of breast cancer metastasis to rare organs. A deeper understanding of the underlying mechanisms and identification of potential therapeutic targets could enhance treatment strategies and ultimately improve patient prognosis.

PMID:39398916 | PMC:PMC11465019 | DOI:10.1007/s13691-024-00697-z

Permalink for 'Respiratory insufficiency after brain metastasectomy for extraskeletal Ewing sarcoma in an adult patient with mucopolysaccharidosis type II: a case report'

Respiratory insufficiency after brain metastasectomy for extraskeletal Ewing sarcoma in an adult patient with mucopolysaccharidosis type II: a case report

Fetched: October 16th, 2024, 2:01am UTC by Manabu Hoshi

Int Cancer Conf J. 2024 Jul 9;13(4):422-426. doi: 10.1007/s13691-024-00702-5. eCollection 2024 Oct.

ABSTRACT

Mucopolysaccharidosis is a rare lysosomal storage disease caused by deficiencies in enzymes involved in the degradation of glycosaminoglycans. We report the case of an adult with mucopolysaccharidosis type II who developed respiratory insufficiency after brain metastasectomy for extraskeletal Ewing sarcoma. This report describes the case of a 35-year-old man with a mass on the left chest wall for 3 months. Magnetic resonance imaging and computed tomography revealed a large mass on the chest wall. Positron emission tomography revealed multiple metastatic lesions in the lungs, ribs, and sternum. A needle biopsy specimen confirmed extraskeletal Ewing sarcoma, and the fusion gene EWS-FLI1 was positive. Subsequently, multidrug chemotherapy was administered. During radiotherapy for the primary lesion, progressive convulsions occurred suddenly. Computed tomography of the brain revealed metastasis in the frontal lobe. Brain metastasectomy was scheduled; however, endotracheal intubation was not possible because of the deformity of the glottis, and emergency tracheostomy was performed. Thereafter, granulation tissue proliferated in reaction to the tracheostomy cannulae in the trachea, and respiratory insufficiency persisted. Because of the rapid growth of an intrathoracic recurrent tumor, the patient passed away 2 months after brain surgery. This is the first report of sarcoma in a patient with mucopolysaccharidosis. Respiratory management is difficult in patients with mucopolysaccharidosis, especially under general anesthesia. Orthopedic surgeons should be aware that surgical planning must be performed carefully when soft tissue sarcomas occur in patients with mucopolysaccharidosis.

PMID:39398911 | PMC:PMC11465033 | DOI:10.1007/s13691-024-00702-5

A rare case of synchronous bilateral ovarian cancer with combined clear cell and mucinous carcinomas and brain metastases

Fetched: October 16th, 2024, 2:01am UTC by Keita Hasegawa

Int Cancer Conf J. 2024 Jun 4;13(4):360-366. doi: 10.1007/s13691-024-00686-2. eCollection 2024 Oct.

ABSTRACT

Although ovarian cancer is generally unilateral, a few cases of bilateral ovarian cancer have been reported, most of which originate from metastases of unilateral ovarian cancer. However, synchronous primary bilateral ovarian cancer (SBOC), comprising two different histological types of ovarian cancer, is extremely rare, with limited reports on its clinical course and prognosis. Herein, we report the case of a 56-year-old postmenopausal Japanese woman with stage IVB SBOC with combined left ovarian clear cell and right ovarian mucinous carcinomas. The patient underwent surgery and received postoperative taxane/platinum-based chemotherapy, which temporarily reduced the tumor size. However, an increase in tumor size and brain metastases were subsequently identified. Treatment was accordingly discontinued, and the patient died of the disease 12 months after diagnosis. In this case report, we detail the clinical course of a case of SBOC. To the best of our knowledge, this is the first report of SBOC with combined histological types of clear cell and mucinous carcinomas, and it is also the first report of SBOC with the eventual discovery of brain metastases.

PMID:39398908 | PMC:PMC11464955 | DOI:10.1007/s13691-024-00686-2

Brain Metastatic Prostate Adenocarcinoma: Avoiding Mistaken Identities

Fetched: October 16th, 2024, 2:01am UTC by James A Knight

Cureus. 2024 Sep 12;16(9):e69282. doi: 10.7759/cureus.69282. eCollection 2024 Sep.

ABSTRACT

Brain metastatic carcinoma is a rare occurrence among prostate cancer metastases. ⁶⁸Gallium prostate-specific membrane antigen PET-CT ([⁶⁸Ga]PSMA PET/CT) is commonly used for prostate cancer staging and detection of biochemical recurrences. However, various CNS tumors exhibit activity on [⁶⁸Ga]PSMA PET/CT and may often be included in the differential diagnosis. Herein, we present a case of brain metastatic prostate cancer successfully treated with surgical resection and adjuvant stereotactic Gamma Knife radiosurgery (GKRS) followed by androgen deprivation therapy (ADT) to emphasize the need for histologic confirmation. A 70-year-old male with a history of very high-risk prostatic adenocarcinoma presented with biochemical recurrence following radical prostatectomy and irradiation of the prostatic fossa. [⁶⁸Ga]PSMA PET/CT and MRI identified a solitary lesion in the left occipital lobe; differential diagnosis included prostate metastasis, meningioma, or a new metastatic primary lesion. The patient underwent surgical resection, and immunohistochemical staining confirmed the lesion as brain metastatic prostate adenocarcinoma. One month after resection, the patient underwent GKRS to the tumor bed and two additional metastases, followed by ADT. Repeated imaging 15 months after GKRS revealed stable posttreatment changes with no evidence of new metastases, thus demonstrating durable, effective local and systemic control. Brain metastatic prostate adenocarcinoma without nodal or osseous metastases is a rare phenomenon. The affinity of [⁶⁸Ga]PSMA PET/CT for non-prostate histologies such as meningioma introduces uncertainty into the diagnostic process. This case demonstrates the durable local control conferred by GKRS toward these lesions and emphasizes the need for clinical, radiographic, and histopathologic data to identify disease presentations and facilitate appropriate treatment regimens.

PMID:39398808 | PMC:PMC11470835 | DOI:10.7759/cureus.69282

Extracellular vesicles for cancer therapy: potential, progress, and clinical challenges

Fetched: October 16th, 2024, 2:01am UTC by Lili Ren

Front Bioeng Biotechnol. 2024 Sep 27;12:1476737. doi: 10.3389/fbioe.2024.1476737. eCollection 2024.

ABSTRACT

Extracellular vesicles (EVs) play an important role in normal life activities and disease treatment. In recent years, there have been abundant relevant studies focusing on EVs for cancer therapy and showing good performance on tumor inhibition. To enhance the effectiveness of EVs, EV analogs have been developed. This review summarizes the classification, origin, production, purification, modification, drug loading and cancer treatment applications of EVs and their analogs. Also, the characteristics of technologies involved are analyzed, which provides the basis for the development and application of biogenic vesicle-based drug delivery platform for cancer therapy. Meanwhile, challenges in translating these vesicles into clinic, such as limited sources, lack of production standards, and insufficient targeting and effectiveness are discussed. With ongoing exploration and clinical studies, EV-based drugs will make great contributions to cancer therapy.

PMID:39398642 | PMC:PMC11466826 | DOI:10.3389/fbioe.2024.1476737

Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination

Fetched: October 16th, 2024, 2:01am UTC by Sandhaya Kukreja

Heliyon. 2024 Sep 27;10(19):e38652. doi: 10.1016/j.heliyon.2024.e38652. eCollection 2024 Oct 15.

ABSTRACT

Scheie syndrome is a mild variant of mucopolysaccharidosis type I (MPS I), a rare group of lysosomal storage diseases that affect multiple organ systems. It is rarely associated with neoplasia. To the best of our knowledge, only a single case of mucopolysaccharidosis associated with a brain tumor has been reported, and it was nearly three decades ago. We present the case of a 10-year-old female with Scheie syndrome associated with a brain tumor. Physical and laboratory findings were suggestive of Scheie syndrome. A skeletal survey also revealed a spectrum of dysostosis multiplex supporting MPS. Children with MPS can have rapidly enlarging head sizes due to hydrocephalus, but our patient had several red flags that demanded further evaluation. A brain MRI revealed a mass in the fourth ventricle and a biopsy of the mass revealed pilocytic astrocytoma grade 1. Intraventricular pilocytic astrocytoma itself is a rare occurrence, accounting for only 4%-15.6 % of all pilocytic astrocytomas. Altered mucopolysaccharide metabolism can be involved in tumor pathogenesis, but the exact mechanism is unknown. Mucopolysaccharidoses, being a group of complicated disorders, are difficult to manage, and many symptoms can be missed in children due to intellectual disability. This case highlights the importance of suspecting brain tumors in children with mucopolysaccharidoses who present with signs and symptoms of increased intracranial pressure. Prompt diagnosis and management can save the child from dire neurological consequences.

PMID:39397911 | PMC:PMC11471181 | DOI:10.1016/j.heliyon.2024.e38652

LONG-TERM NATURAL HISTORY OF GIANT NULL CELL PITUITARY ADENOMA

Fetched: October 16th, 2024, 2:01am UTC by O Ukrainets

Exp Oncol. 2024 Oct 9;46(2):165-173. doi: 10.15407/exp-oncology.2024.02.165.

ABSTRACT

Pituitary adenomas that extend to the ventricular system are extremely rare. We present a 5-year natural history of a giant null cell pituitary adenoma with invasion into the cavernous sinus extending to the third ventricle. MRI series that were available could be useful for neurosurgeons, ophthalmologists, and endocrinologists as well as radiologists. Patients with the diagnosis of pituitary adenoma that are certain according to the radiological and clinical examination should be consulted by a neurosurgeon experienced in endoscopic endonasal surgery, a neuroendocrinologist, and an ophthalmologist. The surgery postponement in such cases results in disability and quality of life worsening. At that time, the surgery of giant pituitary adenomas demands high skills, and the risk of postoperative complications is high. The proper treatment modality including earlier surgery seems to be favorable for patient outcome.

PMID:39396167 | DOI:10.15407/exp-oncology.2024.02.165

Permalink for 'Cerebral venous sinus thrombosis associated with JAK2 V617F mutation-related pre-primary myelofibrosis: a case report and literature review'

Cerebral venous sinus thrombosis associated with JAK2 V617F mutation-related pre-primary myelofibrosis: a case report and literature review

Fetched: October 16th, 2024, 2:01am UTC by Jiahao Song

BMC Neurol. 2024 Oct 12;24(1):386. doi: 10.1186/s12883-024-03913-8.

ABSTRACT

BACKGROUND: Cerebral venous sinus thrombosis (CVST) is a rare but potentially life-threatening subtype of stroke. Prompt and appropriate anticoagulation is crucial for improving the prognosis of CVST and preventing its recurrence. Identifying the underlying cause of CVST is decisive for guiding anticoagulant selection and determining treatment duration.

CASE PRESENTATION: A 50-year-old man presented with a 35-day history of headache, nausea, vomiting, and blurred vision. Digital subtraction angiography performed at another facility revealed CVST. A contrast-enhanced black-blood MRI at our center confirmed the diagnosis, which was supported by a high intracranial pressure of 330mmH2O. Laboratory tests showed elevated leukocytes and platelet counts, raising suspicion of an underlying myeloproliferative neoplasms (MPNs). A bone marrow biopsy demonstrated increased megakaryocytes and granulocytes, and genetic testing identified the presence of the Janus kinase 2 V617F (JAK2 V617F) mutation, leading to a diagnosis of pre-primary myelofibrosis (pre-PMF). During hospitalization, anticoagulation with nadroparin calcium and fibrinolytic therapy were initiated. Upon discharge, rivaroxaban and aspirin were prescribed to prevent CVST recurrence and arterial thrombosis.

CONCLUSION: This case highlights the importance of recognizing dynamic changes in routine blood tests that may link CVST to underlying hematological disorders. The JAK2 mutation is not only associated with MPNs but also increases the risk of thrombosis, including CVST. Further investigation is warranted to better understand the mechanisms by which JAK2 mutations contribute to thrombosis and to explore the potential benefits of JAK2 inhibitors in reducing this risk.

PMID:39395952 | PMC:PMC11470542 | DOI:10.1186/s12883-024-03913-8

Therapeutic effects of an ALK inhibitor, brigatinib, on lung large cell neuroendocrine carcinoma with EML4-ALK fusion

Fetched: October 16th, 2024, 2:01am UTC by Takayuki Suetsugu

Respir Investig. 2024 Oct 11;62(6):1157-1160. doi: 10.1016/j.resinv.2024.09.013. Online ahead of print.

ABSTRACT

A 64-year-old light-smoking woman was clinically diagnosed with lung large-cell neuroendocrine carcinoma (LCNEC) with a metastatic brain tumor. An Oncomine Dx Targeted Test using metastatic brain tissue revealed that the patient's lung cancer cells had an EML4-ALK rearrangement. Patients with LCNEC and anaplastic lymphoma kinase (ALK) gene rearrangements are rare, and there is currently no standard treatment. Based on the genomic analysis, we treated the patient with brigatinib, an ALK inhibitor. We describe here a patient with LCNEC who responded significantly to brigatinib without serious adverse events.

PMID:39395329 | DOI:10.1016/j.resinv.2024.09.013

Pediatric pleuropulmonary blastoma: analysis of four cases

Fetched: October 16th, 2024, 2:01am UTC by Hana Hemead

BMC Cancer. 2024 Oct 11;24(1):1268. doi: 10.1186/s12885-024-12977-1.

ABSTRACT

BACKGROUND: Pleuropulmonary Blastoma (PPB) is an extremely uncommon, highly aggressive tumor that arises from either the lungs or pleura. According to Dehner, PPB was classified into three groups: type I (cystic), type II (mixed), and type III (solid). Type I tends to occur more commonly in infants and has a more favorable prognosis compared to types II and III. This tumor is very rare in pediatric age group; hence, there is no consensus on the optimal treatment regimen for it to date. Type I tumors, which resemble congenital lung cysts, can eventually progress to more aggressive type II and type III tumors. This article aims to increase general awareness of this pathology, clinical presentation, and differential diagnosis in order to identify this rare entity early in its course. By presenting 4 such cases, we highlight that PPB can be missed early in diagnosis and it is important to be alert when putting this rare tumor in differential diagnosis of cystic lung lesions.

METHODS: A retrospective study was conducted between 2015 and 2020 involving patients who had a definitive diagnosis of PPB with emphasis on clinical presentation, preoperative imaging studies, intra-operative findings, pathological reports, ancillary treatment, and outcomes. All patients were followed up every 6 months to monitor local recurrence and distant metastasis by undergoing physical exam and non-contrast enhanced CT of the chest. The primary outcome is to identify the mortality and morbidity (recurrence and distant metastasis) of PPB for cases admitted in our institute.

RESULTS: Four children were diagnosed with PPB during the study period. Clinically, patients presented with manifestations ranging from respiratory distress, fever to obstructive shock and radiologically, 2 cases were presented with mediastinal mass and the other 2 presented with pneumothorax. Regrettably, none of the cases were diagnosed pre-operatively. One lesion proved to be type I, 2 were type II and one was type III. All cases underwent chemotherapy using the combination of vincristine, Adriamycin and cyclophosphamide (VAC regimen). Recurrence was detected in a type II case, around 2 years after operation, and the other type II case developed brain metastasis that was discovered 3 years after operation. Type I case showed no local or distant metastasis.

CONCLUSION: A prompt preoperative diagnosis and workup of cases of PPB is crucial to enable optimal intervention intraoperatively and early postoperative treatment. Though it is uncommon, PPB should be considered in the differential diagnosis of cystic lung lesions.

PMID:39394080 | PMC:PMC11468276 | DOI:10.1186/s12885-024-12977-1

Permalink for 'Tumor-derived IL-6 promotes chordoma invasion by stimulating tumor-associated macrophages M2 polarization and TNFalpha secretion'

Tumor-derived IL-6 promotes chordoma invasion by stimulating tumor-associated macrophages M2 polarization and TNFalpha secretion

Fetched: October 16th, 2024, 2:01am UTC by Yujia Chen

Int Immunopharmacol. 2024 Oct 9;143(Pt 1):113315. doi: 10.1016/j.intimp.2024.113315. Online ahead of print.

ABSTRACT

AIMS: Chordoma is a rare and aggressive bone tumor with high-recurrence and lack of effective treatment methods. Tumor associated macrophages (TAMs) are abundant in tumor microenvironment (TME) and polarize toward M2 in chordoma. It has been observed that the high proportion of M2 cells is associated with chordoma rapid progression. However, the mechanism of TAMs polarization and promotion to tumor progression in chordoma is still unclear. The is an urgent need for further research.

MATERIALS AND METHODS: Flow cytometry and immunohistochemical staining was used to detect the degree of macrophages infiltration in chordoma. A co-culture model of chordoma cells and macrophages was established in vitro to investigate the effects of their interaction on cell function, cytokine secretion, and RNA transcriptome expression.

KEY FINDINGS: In this study, we found M2 macrophage was predominantly abundant immune cell population in chordoma, and its proportion was associated with the degree of bone destruction. We demonstrated that interleukin 6 (IL-6) derived from chordoma cells could induce TAMs polarization by activating STAT3 phosphorylation, and TAMs could enhance chordoma cells migration and invasion through TNFÎ±/NF-ÎºB pathway. The interaction of chordoma cells and TAMs could promote the bone destruction-related factor Cathepsin B (CTSB) and inhibitory immune checkpoints expression. We also confirmed blocking IL-6/STAT3 pathway could significantly attenuate the M2 polarization of TAMs and decrease the secretion of TNFÎ±.

SIGNIFICANCE: This study illustrates the dynamics between chordoma cells and TAMs in promoting chordoma invasion and suggests that IL-6/STAT3 pathway is a potential therapeutic target to reduce TAM-induced chordoma invasion.

PMID:39393273 | DOI:10.1016/j.intimp.2024.113315

Permalink for 'Region-based analyses of existing genome-wide association studies identifies novel potential genetic susceptibility regions for glioma'

Region-based analyses of existing genome-wide association studies identifies novel potential genetic susceptibility regions for glioma

Fetched: October 16th, 2024, 2:01am UTC by Karen Alpen

Cancer Res Commun. 2024 Oct 10. doi: 10.1158/2767-9764.CRC-24-0385. Online ahead of print.

ABSTRACT

PURPOSE: Glioma is a rare and debilitating brain cancer with one of the lowest cancer survival rates. Genome-wide association studies have identified 34 genetic susceptibility regions. We sought to discover novel susceptibility regions using approaches which test groups of contiguous genetic markers simultaneously.

PATIENTS AND METHODS: We analyzed data from three independent glioma studies of European ancestry, GliomaScan (1,316 cases/1,293 controls), AGOG (560 cases/2,237 controls), and GICC (4,000 cases/2,411 controls), using the machine-learning algorithm DEPTH and a region-based regression method based on the generalized Berk-Jones (GBJ) statistic, to assess the association of glioma with genomic regions by glioma type and sex. Summary statistics from the UCSF/Mayo Clinic study were used for independent validation. We conducted a meta-analysis using GliomaScan, AGOG, GICC and UCSF/Mayo.

RESULTS: We identified 11 novel candidate genomic regions for glioma risk common to multiple studies. Two of the 11 regions, 16p13.3 containing RBFOX1 and 1p36.21 containing PRDM2, were significantly associated with female and male glioma risk respectively, based on results of the meta-analysis. Both regions have been previously linked to glioma tumor progression. Three of the 11 regions contain neurotransmitter receptor genes (7q31.33 GRM8, 5q35.2 DRD1, 15q13.3 CHRNA7).

CONCLUSIONS: Our region-based approach identified 11 genomic regions that suggest association with glioma risk of which two regions, 16p13.3 and 1p36.21, warrant further investigation as genetic susceptibility regions for female and male risk respectively. Our analyses suggest that genetic susceptibility to glioma may differ by sex and highlights the possibility that synapse-related genes play a role in glioma susceptibility.

PMID:39387520 | DOI:10.1158/2767-9764.CRC-24-0385

Colorectal Cancer Brain Metastasis With Concomitant KRAS and BRAF Mutations: A Case Report

Fetched: October 16th, 2024, 2:01am UTC by Alexandra Vesa

Cureus. 2024 Sep 9;16(9):e68975. doi: 10.7759/cureus.68975. eCollection 2024 Sep.

ABSTRACT

Colorectal cancer (CRC) brain metastasis (BM) is a rare but aggressive manifestation of the disease, with poor prognosis and limited treatment options. Although brain metastases are more commonly associated with primary tumors located in the lung, skin, and breast, their occurrence in colorectal cancer is uncommon. Genetic mutations are highly important in tumor progression, and mutations in KRAS and BRAF genes are key drivers in colorectal cancer. However, the concurrent presence of both mutations is exceedingly rare. This case report presents a unique instance of colorectal cancer brain metastasis harboring both KRAS and BRAF mutations, highlighting its clinical significance and therapeutic challenges. We present the case of a 62-year-old male patient diagnosed with brain metastasis (in the cerebellum and right parietal lobe) who presented to the hospital with neurological symptoms. He underwent a CT imaging investigation that revealed multiple tumors. Subsequent biopsies confirmed the diagnosis of brain metastasis, with histological characteristics consistent with colonic adenocarcinoma. Tests also revealed aberrant expression of both KRAS and BRAF mutations. This case highlights the importance of considering brain metastases in colorectal cancer patients due to their detrimental effects on prognosis and survival rates. Additionally, the simultaneous presence of BRAF and KRAS mutations, in this case, adds an extra layer of complexity and severity.

PMID:39385899 | PMC:PMC11462387 | DOI:10.7759/cureus.68975

Surgically treated brain metastases of gastric origin: a case series and systematic review

Fetched: October 16th, 2024, 2:01am UTC by Adam S Levy

Clin Neurol Neurosurg. 2024 Oct 2;246:108582. doi: 10.1016/j.clineuro.2024.108582. Online ahead of print.

ABSTRACT

BACKGROUND: The incidence of brain metastases from gastric origin is less than 1% in those with primary gastric cancer. Given this exceedingly rare presentation, there is limited literature describing the outcomes of their neurosurgical treatment. We wish to identify the role of surgical intervention for brain lesions in metastatic gastric cancer via institutional case series and systematic review.

METHODS: This study was divided into two sections: (1) a retrospective, single-center patient series assessing outcomes of neurosurgical treatment modalities in patients with malignancy arising from the stomach with brain metastases and (2) a systematic review abiding by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines between the years of 1980 and 2021 assessing outcomes of patients with primary stomach cancer with metastasis to the brain treated with surgery.

RESULTS: Four patients with gastric brain metastases were treated at our institution, and 16 patients were identified in literature from a total of 9 studies and case reports. The mean age at the time of stomach cancer diagnosis was 57.3 years, with a mean time to brain metastases of 14.8 months. The primary gastric cancer was most commonly adenocarcinoma (70%). Patients most presented with single lesions (58%) and were treated with multimodal neurosurgical intervention (65%). Mean overall survival following neurosurgery was 12.45 months.

CONCLUSION: Brain metastases from gastric origin are extremely rare. Surgical resection of metastatic brain lesions should be considered as a treatment modality in surgical candidates. Future attention should be given to the effect of adjuvant therapies and surgical techniques on survival and quality of life.

PMID:39383584 | DOI:10.1016/j.clineuro.2024.108582

Permalink for 'Clinicopathological, immunohistochemical and therapeutic approaches on survival in patients with epithelioid glioblastoma: Institutional experience in the management of 58 patients'

Clinicopathological, immunohistochemical and therapeutic approaches on survival in patients with epithelioid glioblastoma: Institutional experience in the management of 58 patients

Fetched: October 16th, 2024, 2:01am UTC by Meng-Nan Sun

Neurosurg Rev. 2024 Oct 9;47(1):763. doi: 10.1007/s10143-024-02957-1.

ABSTRACT

Epithelioid glioblastoma (Ep-GBM) is a rare variant of glioblastoma characterized by a high recurrence rate and poor prognosis. Currently, there is no established standard treatment for Ep-GBM. Therefore, we identified 58 Ep-GBM cases to investigate these characteristics and identify the possible prognostic factors of survival. There were 30 male and 28 female patients with a median age of 39 years. Headaches and dizziness were the most common clinical symptom. The tumor is most frequently located in the temporal lobe (36.2%). The positivity rate for BRAF-V600E is 56.9% (33/58), for MGMT is 56.9% (33/58), and for INI-1 is 75% (30/40). Tumor recurrence was observed in 39 patients. The median progression-free survival (PFS) of all patients was 12.7 months, while the median overall survival (OS) was 29.1 months. Additionally, the median survival time after recurrence was 14.3 months. Both univariate and multivariate COX regression analyses revealed that individuals who received more than six cycles of adjuvant oral temozolomide experienced a longer median PFS compared to those who received fewer cycles. Characteristics associated with poorer PFS included tumor dissemination prior to initial surgery. Additionally, both analyses identified tumor dissemination, radiotherapy and adjuvant oral temozolomide as predictors of OS. Notably, for patients with recurrent Ep-GBM, reoperation was shown to significantly increase survival time after recurrence. In conclusion, the standard Stupp regimen is also applicable to patients with Ep-GBM, extending adjuvant oral temozolomide could further improve survival for Ep-GBM patients, reoperation may also prolong survival for recurrent Ep-GBM.

PMID:39382734 | PMC:PMC11464587 | DOI:10.1007/s10143-024-02957-1

Caudal regression syndrome with incidental brain tumor in a woman: A case report

Fetched: October 16th, 2024, 2:01am UTC by Kapil Dawadi

Radiol Case Rep. 2024 Sep 28;19(12):6603-6608. doi: 10.1016/j.radcr.2024.09.073. eCollection 2024 Dec.

ABSTRACT

Caudal regression syndrome is a rare inherited neural tube disorder. It may be associated with urological, gastrointestinal, and other spine malformations. It usually presents with variable neurological deficits of varying severity. Maternal diabetes mellitus has been postulated to be a significant risk factor for this syndrome. Most of the cases are diagnosed in antenatal or early childhood with very few cases been reported in adulthood. We have tried to illustrate a rare case of caudal regression syndrome in a 31-year female presenting with low back pain with incidental finding of brain tumor.

PMID:39380817 | PMC:PMC11459456 | DOI:10.1016/j.radcr.2024.09.073

Recurrent symptomatic intracranial hemorrhage in high-grade astrocytoma with piloid features: illustrative case

Fetched: October 16th, 2024, 2:01am UTC by Hirotaka Niwa

J Neurosurg Case Lessons. 2024 Oct 7;8(15):CASE24395. doi: 10.3171/CASE24395. Print 2024 Oct 7.

ABSTRACT

BACKGROUND: High-grade astrocytoma with piloid features (HGAP) is a novel condition introduced in the 2021 World Health Organization classification. Given that it has been recently classified, reports clarifying its clinical features or diagnostic criteria are lacking, especially in cases of atypical presentation. Herein, the authors present a rare case of HGAP with repeated symptomatic hemorrhages.

OBSERVATIONS: A woman in her 20s presented with an acute headache and vertigo. Computed tomography and magnetic resonance imaging revealed a 2.5 Ã— 2.8 Ã— 2.3-cm hemorrhagic cerebellar mass with calcifications. After moderate improvement of her symptoms, she developed recurrent hemorrhage, and the tumor size increased (3.0 Ã— 3.6 Ã— 4.0 cm) 18 days later, necessitating resection. Pathological and molecular analyses confirmed the diagnosis of HGAP with an FGFR1-TACC1 fusion, MTAP/CDKN2A/B deletion, and SETD2 rearrangement. Radiologically, the presence of calcification and cystic components and the absence of perilesional edema were atypical features of previously reported HGAP.

LESSONS: Although recurrent symptomatic intracranial hemorrhages are rare in HGAP, enhancing lesions on magnetic resonance imaging suggest the need for resection to obtain tissue for molecular diagnosis and guide adjuvant treatment strategies. [https:]

PMID:39378520 | PMC:PMC11465340 | DOI:10.3171/CASE24395

Permalink for 'Clinical Predilection Features of Middle Ear Adenomatous Neuroendocrine Tumors: A Review of 10 Patients and a Special Case Is Attached'

Clinical Predilection Features of Middle Ear Adenomatous Neuroendocrine Tumors: A Review of 10 Patients and a Special Case Is Attached

Fetched: October 16th, 2024, 2:01am UTC by Dan You

Ear Nose Throat J. 2024 Oct 8:1455613241264435. doi: 10.1177/01455613241264435. Online ahead of print.

ABSTRACT

Introduction: Middle ear adenomatous neuroendocrine tumors (MEANTs) are rare middle ear lesions characterized by nonspecific symptoms, signs, and imaging findings. Diagnosis typically relies on postoperative pathological assessment. This study investigated the diagnostic utility of the predilection sites and clinical characteristics of MEANTs. Methods: A retrospective analysis was conducted on clinical data from 10 patients with histologically confirmed MEANTs, admitted to Eye & ENT Hospital of Fudan University between March 2016 and March 2023. Results: The median age of the patients at diagnosis was 39.3 years. Hearing loss (n = 8) and ear pain (n = 6) were the most prevalent clinical symptoms in the patients diagnosed with MEANTs. Endoscopic examination revealed diverse symptoms, predominantly presenting as non-pulsatile masses with distinct boundaries and quasi-circular shapes within the external auditory canal, often accompanied by abundant blood vessels (n = 4). Tumors were typically confined to the middle/lower tympanic chambers or eustachian tube and were frequently associated with tympanic sclerosis, particularly around the pharyngeal tube (n = 3). Pathologically, MEANTs exhibited CD56 positivity or weak positivity, along with positive staining for CKpan and Syn, negativity for S100, and Ki67 â‰¤3%. Personalized surgical interventions were chosen by all the patients based on lesion severity, with no subsequent radiotherapy or chemotherapy administered postoperatively. No tumor progression was noted during the postoperative follow-up. In addition, a noteworthy case was presented in which MEANT initially manifested in the middle or lower tympanic cavity and eustachian tubes. Over 2 years, the tumor progressively grew, invading the middle tympanum and surrounding ossicles, ultimately achieving complete resection with no recurrence observed during subsequent follow-up. Conclusions: A possible diagnosis of middle ear adenoma should be considered when encountering non-pulsatile tumors with clearly demarcated inner boundaries within the external auditory canal accompanied by abundant quasi-circular vessels and the presence of new bone or neoplasm at the pharyngeal tympanic canal orifice observed during preoperative examinations or surgical procedures.

PMID:39378387 | DOI:10.1177/01455613241264435

Permalink for 'A case of spontaneous bilateral epidural hematoma associated with decreased coagulation factor XII activity: case report and literature review'

A case of spontaneous bilateral epidural hematoma associated with decreased coagulation factor XII activity: case report and literature review

Fetched: October 16th, 2024, 2:01am UTC by Zhuxiao Tang

Front Neurol. 2024 Sep 23;15:1460073. doi: 10.3389/fneur.2024.1460073. eCollection 2024.

ABSTRACT

Epidural hematoma typically manifests following craniocerebral trauma, stemming from injury to the meningeal artery or venous system, predominantly on one side. Instances of spontaneous epidural hematoma are uncommon, with occurrences of spontaneous bilateral epidural hematoma being exceedingly rare. Sickle cell disease, adjacent paranasal sinusitis, and tumor metastases are the most prevalent causes of spontaneous epidural hematoma. This case study presents an individual with abdominal liposarcoma exhibiting reduced coagulation factor XII activity, who experienced sudden unconsciousness due to spontaneous acute bilateral epidural hematoma, and subsequently achieved a favorable outcome following surgical intervention.

PMID:39376687 | PMC:PMC11456527 | DOI:10.3389/fneur.2024.1460073

Permalink for 'Spinal Diffuse Midline Glioma H3 K27M-Altered: Report of a Rare Tumor with Extracranial Skeletal Metastases and Review of Literature'

Spinal Diffuse Midline Glioma H3 K27M-Altered: Report of a Rare Tumor with Extracranial Skeletal Metastases and Review of Literature

Fetched: October 16th, 2024, 2:01am UTC by Aditi Rathi

Int J Surg Pathol. 2024 Oct 8:10668969241286243. doi: 10.1177/10668969241286243. Online ahead of print.

ABSTRACT

Diffuse midline glioma, H3 K27-altered is a rare and aggressive pediatric brain tumor with a grim prognosis. Diffuse midline glioma is characterized by specific molecular alterations, including H3 K27 mutations, and involves deep midline structures such as the brainstem, cerebellum, spinal cord, and thalamus. These tumors present with a classic triad of symptoms and have limited surgical options due to their challenging locations. Extra-neural metastases are an unusual occurrence in diffuse midline glioma and have been rarely described. Here we report a 17-year-old girl with spinal diffuse midline glioma, H3 K27M-mutant, who presented with multiple metastatic osseous lesions confirmed on biopsy of the thoracic vertebral lesion. Due to the rapid disease progression, the patient was recommended palliative therapy. Extra-neural metastases in diffuse midline glioma are rare, with only 16 reported patients, and no standard therapy exists. An accurate and early diagnosis is necessary to develop a personalized plan of treatment. Further research is needed to gain insights into the molecular pathology of diffuse midline glioma, H3 K27-altered, and improve the quality of life and the outcome of patients with this deadly disease.

PMID:39376094 | DOI:10.1177/10668969241286243

Permalink for 'Rosai-Dorfman sphenoorbital histiocytosis with intraparenchymal invasion: Do we have to consider this skull base pathology as a malignant disease?'

Rosai-Dorfman sphenoorbital histiocytosis with intraparenchymal invasion: Do we have to consider this skull base pathology as a malignant disease?

Fetched: October 16th, 2024, 2:01am UTC by Erik Burgos-Sosa

Surg Neurol Int. 2024 Sep 20;15:337. doi: 10.25259/SNI_405_2024. eCollection 2024.

ABSTRACT

BACKGROUND: Rosai-Dorfman disease (RDD) is a rare type of histiocytosis that can manifest with diverse symptoms. It usually presents with systemic involvement, and only a few cases have been reported at the level of the skull base. RDD typically follows a benign course during the progression of the disease. In this particular case reported, after the skull base invasion, the disease started to infiltrate the brain parenchyma. Our objective for this case report was to present this particular progression pattern and the nuances of its surgical treatment. In addition, a revision of the current literature was performed about skull base RDD with intracranial invasion and brain parenchyma infiltration not previously described.

CASE DESCRIPTION: We are presenting the case study of a 57-year-old male patient who was experiencing severe headaches and an increase in volume in the right fronto-orbital region. On clinical examination, no neurologic clinical symptoms were observed. Contrast computed tomography and magnetic resonance imaging showed a tumor mass that affected the right orbit, frontal paranasal sinus, greater sphenoid wing, and right frontal lobe with moderate adjacent brain edema. The patient underwent surgery using an extended pterional approach with intracranial, orbital decompression, and frontal sinus cranialization, accompanied by frontal lobe tumor resection. Neuropathologic diagnosis revealed a Rosai-Dorfman histiocytosis disease.

CONCLUSION: The etiopathogenesis of RDD is still not completely understood. The current literature considers this disease to have a predominantly benign course. Nevertheless, as we have shown in this case, it may, in some cases, present direct parenchymal invasion. We consider that prompt surgical treatment should be ideal to avoid the local and systemic progression of the disease.

PMID:39373001 | PMC:PMC11450868 | DOI:10.25259/SNI_405_2024

Permalink for 'A case of immunocompetent intracranial cryptococcoma in which intraoperative rapid pathological diagnosis and polymerase chain reaction led to early treatment: What to know to avoid misdiagnosis as brain tumor'

A case of immunocompetent intracranial cryptococcoma in which intraoperative rapid pathological diagnosis and polymerase chain reaction led to early treatment: What to know to avoid misdiagnosis as brain tumor

Fetched: October 16th, 2024, 2:01am UTC by Saho Fujishita

Surg Neurol Int. 2024 Sep 13;15:330. doi: 10.25259/SNI_614_2024. eCollection 2024.

ABSTRACT

BACKGROUND: Cryptococcal infections of the central nervous system are infrequent in immunocompetent hosts and usually present as meningitis. However, a fungal mass called a cryptococcoma may form, requiring caution in therapeutic intervention. Here, we report a rare case in which treatment of intraventricular cryptococcoma in an immunocompetent patient was facilitated by rapid pathological diagnosis.

CASE DESCRIPTION: A 58-year-old previously healthy man was admitted to our hospital with fever, headache, and gradually worsening hearing loss over 1 month. Cerebrospinal fluid analysis showed moderately elevated levels of protein and lymphocytic cells and decreased glucose. In addition, Î²2-microglobulin was highly elevated. Magnetic resonance imaging showed homogeneously enhanced lesions in lateral ventricles of the left and right hemispheres and the subarachnoid space, and ¹⁸F-fluorodeoxyglucose positron emission tomography revealed abnormal uptake corresponding to the lesion. A surgical excision was performed to achieve a definitive diagnosis. Intraoperative rapid pathology, including immunohistochemistry (IHC), yielded negative results for malignant tumor, suggesting the possibility of inflammatory granuloma. Additional targeted pathological diagnosis was immediately performed. Paraffin-embedded histopathological examination showed fibrocaseous granuloma and numerous fungal spores. Cryptococcus neoformans within the granuloma were suggested by Fontana-Masson and Grocott staining and confirmed by polymerase chain reaction (PCR), leading to a diagnosis of cryptococcoma. Antifungal agents were started 3 days postoperatively. The patient has since been doing well, with no recurrence.

CONCLUSION: This pathology can be difficult to distinguish from a brain tumor, so early pathological diagnosis, including rapid pathology with IHC and PCR, may be crucial.

PMID:39372983 | PMC:PMC11450775 | DOI:10.25259/SNI_614_2024

Permalink for 'Proton beam therapy in a patient with secondary glioblastoma (32 years after postoperative irradiation of medulloblastoma): case report and literature review'

Proton beam therapy in a patient with secondary glioblastoma (32 years after postoperative irradiation of medulloblastoma): case report and literature review

Fetched: October 16th, 2024, 2:01am UTC by Bai Jiwei

Radiat Oncol. 2024 Oct 5;19(1):136. doi: 10.1186/s13014-024-02515-5.

ABSTRACT

OBJECTIVE: This report details the experience of a patient who developed a second primary glioblastoma (GB), offering insights into the treatment process and reviewing relevant literature.

CASE PRESENTATION: A male patient, who was diagnosed with medulloblastoma at age 9, received treatment with cobalt-60 craniospinal irradiation (CSI) (36 Gy/20 fractions) and a tumor bed boost (total of 56 Gy). After 32 years, at age 41, an MRI revealed a space-occupying mass in the left cerebellar hemisphere. Surgical resection was performed, and postoperative pathology confirmed a diagnosis of radiation-induced glioblastoma (RIGB). Given the history of irradiation and the current tolerability of brainstem doses, proton beam therapy (PBT) combined with Temozolomide (75 mg/m²) was chosen. The treatment plan included 60 Gy on the gross tumor bed and 54 Gy on the clinical target volume, delivered in 30 fractions. The patient underwent regular follow-up and achieved a complete response.

CLINICAL DISCUSSION: For childhood cancer survivors, the development of a second primary tumor significantly impacts prognosis. RIGB is a rare form of secondary tumor with distinct molecular characteristics compared to primary GB and recurrent secondary GB. Molecular markers such as IDH and MGMT status can help differentiate between primary GB, recurrent secondary GB, and radiation-induced secondary GB in patients with a history of prior radiation therapy. Surgical resection remains a primary treatment option, while PBT is preferred for postoperative treatment due to its superior protection of normal tissues and the ability to deliver high-dose irradiation.

CONCLUSION: RIGB is a rare second primary tumor that requires strategic molecular profiling and individualized management. Proton beam therapy provides effective high-dose irradiation in the postoperative phase and is the preferred treatment option for such cases.

PMID:39369243 | PMC:PMC11453085 | DOI:10.1186/s13014-024-02515-5

Obstructive hydrocephalus due to choroid plexus carcinoma of third ventricle in pediatric: A rare case report

Fetched: October 16th, 2024, 2:01am UTC by Ferdina Widokartika Ashri

Radiol Case Rep. 2024 Sep 21;19(12):6112-6116. doi: 10.1016/j.radcr.2024.08.127. eCollection 2024 Dec.

ABSTRACT

Choroid plexus carcinoma (CPC) is an uncommon tumor that accounts for less than 1% of all pediatric brain tumors. CPC usually originates in the lateral ventricle, followed by the fourth ventricle; the incidence in the third ventricle is only 5% of all CPC cases (children and adults). We report an extremely rare tumor arising from the choroid plexus of the third ventricle in a 6-year-old child with progressive headache, macrocephaly, left hemiparesis, and sunset eyes. The imaging found a well-defined, lobulated mass with strong enhancement in the posterior part of the third ventricle, resulting in obstructive hydrocephalus. The patient underwent an endoscopic biopsy and histopathological examination, which resulted in choroid plexus carcinoma.

PMID:39364273 | PMC:PMC11447345 | DOI:10.1016/j.radcr.2024.08.127

Small Intestine Metastasis Leads to the Diagnosis of Thoracic SMARCA4-Deficient Undifferentiated Tumor: A Case Report

Fetched: October 16th, 2024, 2:01am UTC by Rei Sanai

Cureus. 2024 Sep 1;16(9):e68364. doi: 10.7759/cureus.68364. eCollection 2024 Sep.

ABSTRACT

SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare and aggressive malignancy characterized by the loss of SMARCA4 protein expression. It typically affects middle-aged male smokers and has a poor prognosis due to its rapid progression and metastatic potential. This case report presents a 73-year-old male diagnosed with a thoracic SMARCA4-UT. Initially diagnosed with stage IVA non-small cell lung cancer, the patient underwent brain tumor resection, radiation, and chemo-immunotherapy. Treatment was halted due to immune-related adverse events. During treatment, a progressing small intestine tumor was discovered, resected, and identified as SMARCA4-UT metastasis through immunohistochemistry, leading to a revised diagnosis of SMARCA4-UT with brain and small intestine metastases. The patient received multimodal treatment, including surgery, radiation, and chemo-immunotherapy. The small intestine metastasis showed resistance to systemic therapy, necessitating surgical intervention. This case highlights the diagnostic challenges and treatment complexities of SMARCA4-UT, emphasizing the importance of comprehensive diagnostic workup and personalized treatment strategies. It demonstrates the potential efficacy of combining systemic therapy with targeted interventions for oligoprogressive disease. The patient's progression-free survival at approximately two years post-diagnosis underscores the need for further research into optimal management strategies for this rare tumor.

PMID:39360100 | PMC:PMC11444843 | DOI:10.7759/cureus.68364

Permalink for 'Drug-resistant schizophrenia-like psychosis associated with temporal non-anaplastic pleomorphic xanthoastrocytoma: unusual revealing symptom of a rare pathology'

Drug-resistant schizophrenia-like psychosis associated with temporal non-anaplastic pleomorphic xanthoastrocytoma: unusual revealing symptom of a rare pathology

Fetched: October 16th, 2024, 2:01am UTC by Mehdi Borni

Ann Med Surg (Lond). 2024 Aug 22;86(10):6208-6214. doi: 10.1097/MS9.0000000000002484. eCollection 2024 Oct.

ABSTRACT

INTRODUCTION AND IMPORTANCE: Pleomorphic xanthoastrocytoma (PXA) was first described by Kepes et al. in 1979. Fewer than 200 cases have been reported in the literature. It generally involves the temporoparietal lobe. PXA has a favorable prognosis. The most reported clinical manifestation is epileptic seizures. Revealing psychiatric symptoms have an incidence varying from 50 to 78%. The most common symptoms encountered are anxiety disorders, depression, schizophrenia-like psychosis, cognitive dysfunction or even anorexia nervosa.

CASE PRESENTATION: Here, the authors report a new case of non-anaplastic pleomorphic xanthoastrocytoma revealed by a drug-resistant schizophrenia-like psychosis in a 26-year-old male patient known with epileptic seizures in whom these two pathologies were intertwined and had been evolving for 5 years. The postoperative course was uneventful, and positive symptoms of schizophrenia were relatively stabilized at discharge.

CLINICAL DISCUSSION: Given the superficial hemispheric location of PXA, the most common clinical presentation is seizures. Psychiatric symptoms revealing brain tumors have an incidence varying from 50 to 78%. Most of these symptoms concern frontal and limbal tumors. In their case, the tumor was located in the right temporal lobe. Surgery was performed and postoperative course was uneventful even though there are conflicting reports regarding the importance of the surgical excision quality.

CONCLUSION: PXA remains a rare and benign primary CNS tumor. Psychiatric disorders represent a rare revealing mode of this pathology, which must lead to neuroimaging in any patient carrying this type of symptoms.

PMID:39359786 | PMC:PMC11444643 | DOI:10.1097/MS9.0000000000002484

Permalink for 'Nasal immature teratoma in an elderly patient: Clinicopathological and epigenetic analogies with central nervous system counterparts, alongside genomic divergences'

Nasal immature teratoma in an elderly patient: Clinicopathological and epigenetic analogies with central nervous system counterparts, alongside genomic divergences

Fetched: October 16th, 2024, 2:01am UTC by Shintaro Inoue

Neuropathology. 2024 Oct 2. doi: 10.1111/neup.13008. Online ahead of print.

ABSTRACT

Germ cell tumors (GCTs) are categorized as gonadal or extra-gonadal, based on the origin. Extra-gonadal GCTs predominantly manifest within the central nervous system (CNS), mediastinum, retroperitoneum, and sacrococcygeal region. These malignancies are most frequently diagnosed in the pediatric, adolescent, and young adult demographics. Incidences of GCT within the nasal cavity are notably scarce, with only six cases documented. This report details the case of a 70-year-old man who presented with a left nasal mass ultimately diagnosed as immature teratoma. A remarkable aspect of this case was the detection of SMARCA4 (BRG1) loss through immunohistochemical analysis. In addition, methylation profiling aligned this case with CNS GCTs, specifically those classified as non-germinomatous GCTs. This molecular characterization informed a tailored therapeutic strategy incorporating carboplatin and etoposide, alongside localized irradiation. This individualized treatment regimen achieved favorable outcomes, with the patient remaining recurrence free for over three years. This highlights the need for precise therapeutic approaches in the management of extragonadal GCTs, particularly those arising in atypical anatomical locations. The present case accentuates the significance of thorough diagnostic evaluations and customized treatment plans for rare GCT presentations. Further empirical and clinical investigations are warranted to enhance our understanding of and refine therapeutic protocols for such exceptional cases.

PMID:39359021 | DOI:10.1111/neup.13008

Permalink for 'Distinction of papillary and adamantinomatous craniopharyngioma: Clinical features, surgical nuances and hypothalamic outcomes'

Distinction of papillary and adamantinomatous craniopharyngioma: Clinical features, surgical nuances and hypothalamic outcomes

Fetched: October 16th, 2024, 2:01am UTC by Le Yang

Neoplasia. 2024 Nov;57:101060. doi: 10.1016/j.neo.2024.101060. Epub 2024 Oct 1.

ABSTRACT

OBJECTIVE: Understanding the differences of suprasellar papillary and adamantinomatous craniopharyngiomas (PCPs/ACPs) is pivotal for target therapy, surgical strategy or postoperative management. Here, the clinical features, surgical nuances and postoperative hypothalamic outcomes of PCPs were systematically recapitulated.

METHODS: 24 PCPs and 52 ACPs underwent initial surgery were retrospectively reviewed. Clinical data, quantified third ventricle (3rd V) occupation and optic chiasm distortion were compared, as well as intra-operative findings, operating notes and prognosis. Moreover, analysis of tumor/3rd V relationship and hypothalamic outcomes were also performed.

RESULTS: Tumors were more likely to occupies the 3rd V cavity in PCPs. Chiasm distortion of "compressed forward" was the most common pattern (45.8 %) in PCPs, whereas "stretched forward" pattern accounted the highest (42.5 %) in ACPs. Besides, round-shaped with less calcification, duct-like recess, solid consistency, rare subdiaphragmatic invasion, visible lower stalk and improved postoperative visual outcome were more frequently observed in PCPs. The basal membranes of the tumor epithelium and the reactive gliosis were separated by a layer of collagen fibers in most PCPs, which differs from ACPs in the morphological examination of tumor/3rd V floor interface. In daytime sleepiness and memory difficulty, the PCPs showed significantly better outcomes than the ACPs groups, and PCPs suffered less postoperative weight gain (p < 0.05) than ACPs among adult-onset cases.

CONCLUSION: PCPs are different from ACPs regards the clinical features, operative techniques and outcomes. If necessary, PCPs are suggested more amenable to total removal since its less invasiveness to the 3rd V floor and better hypothalamic outcomes.

PMID:39357265 | DOI:10.1016/j.neo.2024.101060

Permalink for 'Stereotactic radiosurgery for recurrent/residual nonfunctioning pituitary adenoma: a single-arm systematic review and meta-analysis'

Stereotactic radiosurgery for recurrent/residual nonfunctioning pituitary adenoma: a single-arm systematic review and meta-analysis

Fetched: October 16th, 2024, 2:01am UTC by Fernando De Nigris Vasconcellos

Acta Neurochir (Wien). 2024 Oct 2;166(1):392. doi: 10.1007/s00701-024-06296-4.

ABSTRACT

BACKGROUND: Nonfunctioning pituitary adenomas (NFPAs) are a significant subtype of pituitary tumors, accounting for 30% of all pituitary tumors and 10-20% of intracranial tumors. The primary treatment for NFPAs is resection, but complete resection is often challenging due to the tumor's proximity to critical structures, leading to frequent recurrences. Stereotactic radiosurgery (SRS) has emerged as a viable treatment option for recurrent or residual NFPAs, but its long-term efficacy and safety profile require further investigation.

METHODS: This systematic review followed PRISMA guidelines and included studies published up to February 2024. We searched MEDLINE, Embase, and Cochrane databases for studies evaluating SRS for recurrent/residual NFPAs. Inclusion criteria focused on studies reporting outcomes and complications of SRS, while exclusion criteria omitted case reports, case series, and non-English studies. Data extracted included demographic details, dosimetry parameters, and follow-up durations. The risk of bias was assessed using the ROBINS-I tool, and statistical analyses were performed using single-arm meta-analyses.

RESULTS: A total of 24 studies involving 3,781 patients were included. The mean follow-up duration was 60 months. Tumor control was achieved in approximately 92.3% of patients. The risk of developing hypopituitarism post-SRS was 13.62%, while the risk for panhypopituitarism was 2.55%. New visual field deficits occurred in 3.94% of patients. Cranial nerve deficits were rare, with event rates below 1% for CN III, CN V, and CN VI.

CONCLUSION: SRS is effective in managing recurrent or residual NFPAs, achieving high tumor control rates. However, the risk of hypopituitarism remains a significant concern, necessitating regular endocrinological monitoring. While generally safe, the potential for new visual field deficits and other cranial nerve deficits must be considered. SRS remains a valuable treatment option, but clinicians should be aware of its potential complications.

PMID:39356336 | DOI:10.1007/s00701-024-06296-4

A Single Institution Experience in the Management of Localized Neuroendocrine Carcinoma of the Bladder

Fetched: October 16th, 2024, 2:01am UTC by Casey Liveringhouse

Clin Genitourin Cancer. 2024 Sep 7;22(6):102222. doi: 10.1016/j.clgc.2024.102222. Online ahead of print.

ABSTRACT

BACKGROUND: Neuroendocrine carcinoma of the bladder (NEC-bladder) is a rare disease with poor outcomes and variable treatment approaches.

MATERIALS AND METHODS: Patients with localized NEC-bladder treated with surgery or radiation between 2001-2021 were retrospectively identified. Rates of pathologic complete response (pCR) and downstaging were evaluated following NAC in surgically-treated patients. Progression-free survival (PFS) and overall survival (OS) were analyzed with univariable (log-rank) and multivariable (MVA; Cox regression) methods.

RESULTS: Sixty-five patients were identified having a median age of 73. The tumor histology distribution was small cell (64.6%) or urothelial with NE differentiation (35.4%). Most patients (69.2%) received NAC. Patients received local therapy by surgery (78.5%) or chemoradiation (21.5%). The majority (62.7%) of surgical patients had â‰¥ pT2 with 37.3% having nodal involvement (pN+). The pCR and downstaging rates were 21.6% and 35.1%, respectively. At a median follow-up of 60 months (m), the median PFS and OS were 16.4m and 25.9m, respectively. NAC improved PFS (p=0.04) and downstaging improved PFS (p=0.012) and OS (p<0.001). Patients receiving NAC with ypN0 vs. ypN+ had median OS of 69.9m vs 15.3m, respectively (p<0.001). MVA identified receipt of NAC and pN as predictors of PFS; pN was predictive of OS. No differences in PFS or OS were seen between histology of primary tumor. The brain metastasis rate was 10.8% with all patients having small cell histology.

CONCLUSIONS: Optimized therapy in NEC-bladder includes NAC followed by local consolidation. Ascertainment of ypN0 is associated with long term survival, while pN+ remains associated with poor outcomes.

PMID:39353214 | DOI:10.1016/j.clgc.2024.102222

Metastatic prostate adenocarcinoma to the brain - a clinicopathologic analysis of 21 cases

Fetched: October 16th, 2024, 2:01am UTC by Namra Ajmal

Diagn Pathol. 2024 Oct 1;19(1):132. doi: 10.1186/s13000-024-01554-6.

ABSTRACT

BACKGROUND: Brain metastasis from prostate adenocarcinoma (PCa) is rare, often leading to death within a year. Its infrequent occurrence and atypical histopathologic features contribute to lower consideration in the differential diagnosis of tumor brain metastasis. This study aims to assess the clinical characteristics and distinctive histopathologic features of metastatic PCa in the brain for timely and enhanced diagnostic accuracy.

DESIGN: A retrospective search spanning 20 years (2003-2022) was conducted on our archives and identified 21 cases diagnosed as "metastatic prostate adenocarcinoma (mPCa)" in brain biopsies and resections. All existing slides were thoroughly reviewed to evaluate the histopathology of the mPCa.

RESULT: The mean age at presentation for brain metastasis was 70 years. Of 21 cases, 5 were dural-based lesions, 16 were true intraparenchymal metastases, including 2 sellar/suprasellar masses, 3 frontal, 3 temporal, 3 occipital, 1 cerebellum, and 4 involving multiple brain lobes. The average interval between initial diagnosis and brain metastasis was 90.75 months. Notably, brain metastasis was the initial presentation for one patient, while another patient, initially diagnosed with prognostic grade group (GG) 2 PCa in 1/12 cores, presented with isolated brain metastasis two years later. Architecturally, tumor cells were arranged in sheets or nests in most cases; however, four cases showed histologic cribriform patterns, and five displayed papillary architecture. Cytohistology varied from uniform monomorphic to highly pleomorphic cells with prominent nucleoli (8/19) and high mitotic activity. Interestingly, 1 case showed small round blue cell morphology, another had focal areas of rhabdoid and spindle cell differentiation, and 6 had cytoplasmic clearing. Almost half of the cases (47%) showed necrosis.

CONCLUSION: mPCa to the brain can present with variable histomorphology. Therefore, consideration of mPCa in the differential diagnosis of metastatic brain lesions, even with non-suggestive imaging, is imperative in male patients with or without a history of primary disease. Accurate and prompt diagnosis is crucial, given the recent advancements in treatment that have improved survival rates.

PMID:39354583 | PMC:PMC11443825 | DOI:10.1186/s13000-024-01554-6

Ciliary body myxoid epithelioid sarcoma in a cat: a case report

Fetched: October 16th, 2024, 2:01am UTC by Marina L Leis

BMC Vet Res. 2024 Oct 1;20(1):442. doi: 10.1186/s12917-024-04286-3.

ABSTRACT

BACKGROUND: The majority of primary, intraocular tumors in cats originate from the uvea and include feline diffuse iris melanoma, lymphoma, and iridociliary epithelial adenoma or adenocarcinoma. In this case report, we describe for the first time the clinical, histological, and immunohistochemical findings of a rare myxoid intraocular neoplasm arising from the ciliary body in a cat.

CASE PRESENTATION: A 14-year-old, female, spayed domestic shorthaired cat was presented for evaluation of discolouration of the right eye. Upon examination, a clear to light whitish-tan, bubble-shaped intraocular mass adherent to the inferior ciliary body and extending into the anterior chamber was noted. Within five weeks, the tumor was significantly larger and the eye had developed secondary glaucoma so was enucleated. Light microscopic examination of the globe revealed a multinodular, hypocellular neoplasm arising from the ciliary body composed of interwoven spindle cells embedded in abundant amounts of a lightly basophilic myxoid matrix. Neoplastic cells exhibited strong immunoreactivity for cytokeratin while also showing moderate to strong immunoreactivity to vimentin. A diagnosis was therefore made of an unusual intraocular myxoid epithelioid sarcoma arising from the ciliary body.

CONCLUSIONS: Although apparently exceedingly rare, epithelioid myxosarcoma should be included as a differential diagnosis for intraocular tumors in cats and they represent a clinical, histologic, and immunohistochemical diagnostic challenge. Early surgical intervention should be considered to prevent local invasion and ascension to the brain.

PMID:39354457 | PMC:PMC11443778 | DOI:10.1186/s12917-024-04286-3

Targeted radionuclide therapy for patients with CNS metastasis: overlooked potential?

Fetched: October 16th, 2024, 2:01am UTC by Emilie Le Rhun

Neuro Oncol. 2024 Oct 1:noae192. doi: 10.1093/neuonc/noae192. Online ahead of print.

ABSTRACT

Targeted radionuclide therapy is an emerging therapeutic concept for metastatic cancer that can be considered if a tumor can be delineated by nuclear medicine imaging and also targeted based on expression of a particular target (thera-nostics). This mode of treatment can also compete with or supplement conventional radiotherapy e.g., if MRI does not fully capture the extent of disease, including microscopic metastases. Targeted radionuclide therapy for patients with thyroid cancer, with certain somatostatin receptor 2-expressing tumors and with prostate-specific membrane antigen (PSMA)-expressing prostate cancer are approved, and numerous approaches of targeted radionuclide therapy for patients with metastatic cancer are in development (e.g. using fibroblast activation protein (FAP) as a target). Although brain metastases are rare in the cancers with approved targeted radionuclide therapies, there is no a priori reason to assume that such treatments would not be effective against brain metastases if the targets are expressed and not shielded by the blood brain barrier. Here, we discuss the current state of the art and opportunities of targeted radionuclide therapies for patients with brain and leptomeningeal metastases.

PMID:39351771 | DOI:10.1093/neuonc/noae192

Posterior pituitary tumors and other rare entities involving the pituitary gland

Fetched: October 16th, 2024, 2:01am UTC by Federico Roncaroli

Brain Pathol. 2024 Sep 30:e13307. doi: 10.1111/bpa.13307. Online ahead of print.

ABSTRACT

Non-neuroendocrine tumors account for around 10% of all primary neoplasms of the sella. If meningiomas, craniopharyngiomas, and germ cell tumors are excluded, the remaining lesions include a broad spectrum of uncommon, benign, and aggressive, often diagnostically challenging lesions. This review aims to summarize the essential clinicopathological features of tumors of the posterior pituitary gland, infundibulum spectrum expressing thyroid transcription factor 1, and primary sellar atypical rhabdoid teratoid tumor, and provide the criteria for their diagnosis and management.

PMID:39350562 | DOI:10.1111/bpa.13307

Integrated multi-omics assessment of lineage plasticity in a prostate cancer patient with brain and dural metastases

Fetched: October 16th, 2024, 2:01am UTC by Megan L Ludwig

NPJ Precis Oncol. 2024 Sep 30;8(1):215. doi: 10.1038/s41698-024-00713-8.

ABSTRACT

Metastases to the brain are rare in prostate cancer. Here, we describe a patient with two treatment-emergent metastatic lesions, one to the brain with neuroendocrine prostate cancer (NEPC) histology and one to the dural membrane of adenocarcinoma histology. We performed genomic, transcriptomic, and proteomic characterization of these lesions and the primary tumor to investigate molecular features promoting these metastases. The two metastatic lesions had high genomic similarity, including TP53 mutation and PTEN deletion, with the most striking difference being the additional loss of RB1 in the NEPC lesion. Interestingly, the dural lesion expressed both androgen receptor and neuroendocrine markers, suggesting amphicrine carcinoma (AMPC). When analyzing pioneer transcription factors, the AMPC lesion exhibited elevated FOXA1 activity while the brain NEPC lesion showed elevated HOXC10, NFYB, and OTX2 expression suggesting novel roles in NEPC formation or brain tropism. Our results highlight the utility of performing multi-omic characterization, especially in rare cancer subtypes.

PMID:39349591 | PMC:PMC11443004 | DOI:10.1038/s41698-024-00713-8

Permalink for 'Feasibility of Circulating Tumor DNA Detection in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement in Large B-Cell Lymphoma'

Feasibility of Circulating Tumor DNA Detection in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement in Large B-Cell Lymphoma

Fetched: October 16th, 2024, 2:01am UTC by Seok Jin Kim

Ann Lab Med. 2024 Sep 30. doi: 10.3343/alm.2024.0257. Online ahead of print.

ABSTRACT

We explored the utility of cerebrospinal fluid (CSF) circulating tumor DNA (ctDNA) sequencing as a noninvasive diagnostic tool for detecting central nervous system (CNS) involvement in patients with diffuse large B-cell lymphoma (DLBCL). Secondary CNS involvement in DLBCL, although rare (~5% of cases), presents diagnostic and prognostic challenges during systemic disease progression or relapse. Effective treatment is impeded by the blood-brain barrier. This was a prospective cohort study (Samsung Lymphoma Cohort Study III) involving 17 patients with confirmed CNS involvement. High-throughput sequencing was conducted using targeted gene panels designed to detect low-frequency variants and copy number alterations pertinent to lymphomas in ctDNA extracted from archived CSF samples. Despite challenges such as low DNA concentrations affecting library construction, the overall variant detection rate was 76%. Detected variants included those in genes commonly implicated in CNS lymphoma, such as MYD88. The study highlights the potential of CSF ctDNA sequencing to identify CNS involvement in DLBCL, providing a promising alternative to more invasive diagnostic methods such as brain biopsy, which are not always feasible. Further validation is necessary to establish the clinical utility of this method, which could significantly enhance the management and outcomes of DLBCL patients with suspected CNS involvement.

PMID:39344147 | DOI:10.3343/alm.2024.0257

Characterizing second line and beyond therapies for primary central nervous system lymphomas

Fetched: October 16th, 2024, 2:01am UTC by Brian Primeaux

Hematol Oncol. 2024 Nov;42(6):e3313. doi: 10.1002/hon.3313.

ABSTRACT

Primary central nervous system (CNS) lymphoma (PCNSL) is a rare and aggressive lymphoma that affects the CNS without other systemic involvement. High-dose methotrexate (HDMTX)-based regimens are recommended frontline treatment, followed by consolidation with either high-dose chemotherapy, whole brain radiation (WBRT) +/- sequential temozolomide (TMZ), or autologous stem cell transplant (autoSCT). Despite advancements with HDMTX and rituximab, up to half of patients will relapse. Treatment for relapsed or refractory (R/R) disease varies widely as preferred regimens are not well-established. Our study aimed to provide real-world characterization of R/R PCNSL therapies. The secondary objective was characterization of consolidation methods after frontline treatment. This retrospective, descriptive analysis included 54 adult PCNSL patients that received a HDMTX-based frontline regimen between 4/1/2016 and 7/1/2022. Patients receiving HDMTX for the purpose of secondary CNS lymphoma, non-B cell origin PCNSL, and intraocular lymphoma were excluded. Thirty-one patients (57%) received consolidation therapy with rituximab and high-dose cytarabine (R-HDAC), WBRT, or both. Thirteen patients (24%) proceeded with autoSCT. Twenty-five patients had disease progression, with 17 patients receiving second line treatment. The second line treatments were WBRT (24%), clinical trial (18%), rituximab with lenalidomide (R²; 18%), re-induction with HDMTX-based regimens (18%), ibrutinib with rituximab (12%) and R-HDAC (12%). Seven patients progressed, and all received third line treatment. Treatments varied, including R²; ibrutinib +/- HDMTX; rituximab, methotrexate, and cytarabine; R-HDAC; R-nivolumab; and WBRT. Five patients received a fourth line regimen of R +/- lenalidomide, R-HDMTX, or nivolumab monotherapy. Regimens used for the three patients who received fifth line treatment and beyond included R-TMZ and pembrolizumab monotherapy in addition to previously described regimens. Regimen selection is varied and highly dependent on physician preference and patient factors, including clinical trial eligibility, prior therapies, performance status, organ function, and treatment intent. Prospective clinical trials are needed to guide optimal management.

PMID:39340121 | DOI:10.1002/hon.3313

Radiosensitizing Effect of PARP Inhibition on Chondrosarcoma and Chondrocyte Cells Is Dependent on Radiation LET

Fetched: October 16th, 2024, 2:01am UTC by Antoine Gilbert

Biomolecules. 2024 Aug 27;14(9):1071. doi: 10.3390/biom14091071.

ABSTRACT

Chondrosarcoma is a rare malignant tumor that forms in bone and cartilage. The primary treatment involves surgical removal of the tumor with a margin of healthy tissue. Especially if complete surgical removal is not possible, radiation therapy and chemotherapy are used in conjunction with surgery, but with a generally low efficiency. Ongoing researches are focused on understanding the genetic and molecular basis of chondrosarcoma following high linear energy transfer (LET) irradiation, which may lead to treatments that are more effective. The goal of this study is to evaluate the differential effects of DNA damage repair inhibitors and high LET irradiation on chondrosarcoma versus chondrocyte cells and the LET-dependency of the effects. Two chondrosarcoma cell lines with different IDH mutation status and one chondrocyte cell line were exposed to low LET (X-ray) and high LET (carbon ion) irradiation in combination with an Olaparib PARP inhibitor. Cell survival and DNA repair mechanisms were investigated. High LET irradiation drastically reduced cell survival, with a biological efficiency three times that of low LET. Olaparib significantly inhibited PARylation in all the tested cells. A significant reduction in cell survival of both chondrosarcoma and chondrocyte cells was observed following the treatment combining Olaparib and X-ray. PARP inhibition induced an increase in PARP-1 expression and a reduced effect on the cell survival of WT IDH chondrosarcoma cells. No radiosensitizing effect was observed in cells exposed to Olaparib paired with high LET irradiation. NHEJ was activated in response to high LET irradiation, neutralizing the PARP inhibition effect in both chondrosarcoma cell lines. When high LET irradiation is not available, PARP inhibition could be used in combination with low LET irradiation, with significant radiosensitizing effects on chondrosarcoma cells. Chondrocytes may be affected by the treatment combination too, showing the need to preserve normal tissues from radiation fields when this kind of treatment is suggested.

PMID:39334838 | PMC:PMC11429578 | DOI:10.3390/biom14091071

Proteogenomic characterization of skull-base chordoma

Fetched: October 16th, 2024, 2:01am UTC by Qilin Zhang

Nat Commun. 2024 Sep 27;15(1):8338. doi: 10.1038/s41467-024-52285-7.

ABSTRACT

Skull-base chordoma is a rare, aggressive bone cancer with a high recurrence rate. Despite advances in genomic studies, its molecular characteristics and effective therapies remain unknown. Here, we conduct integrative genomics, transcriptomics, proteomics, and phosphoproteomics analyses of 187 skull-base chordoma tumors. In our study, chromosome instability is identified as a prognostic predictor and potential therapeutic target. Multi-omics data reveals downstream effects of chromosome instability, with RPRD1B as a putative target for radiotherapy-resistant patients. Chromosome 1q gain, associated with chromosome instability and upregulated mitochondrial functions, lead to poorer clinical outcomes. Immune subtyping identify an immune cold subtype linked to chromosome 9p/10q loss and immune evasion. Proteomics-based classification reveals subtypes (P-II and P-III) with high chromosome instability and immune cold features, with P-II tumors showing increased invasiveness. These findings, confirmed in 17 paired samples, provide insights into the biology and treatment of skull-base chordoma.

PMID:39333076 | PMC:PMC11436687 | DOI:10.1038/s41467-024-52285-7

Increased Distress in Neurooncological Patients, a Monocentric Longitudinal Study: When to Screen Which Patient?

Fetched: October 16th, 2024, 2:01am UTC by Franziska Staub-Bartelt

Diseases. 2024 Sep 16;12(9):217. doi: 10.3390/diseases12090217.

ABSTRACT

OBJECTIVE: Neurooncological patients are well-known to experience an increased psycho-oncological burden with a negative impact on distress, therapy adherence, quality of life, and finally survival. But still, psycho-oncological screening and support is rare, with ongoing discussion about specific screening time points and impact factors. Therefore, we analysed the psycho-oncologic treatment demand at specific disease-related time points throughout therapy.

METHODS: In this longitudinal, prospective, single-centre study, patients with malignant brain tumours were screened for increased distress (using the Distress Thermometer), anxiety, depression (Hospital Anxiety and Depression Scale questionnaire), and health-related quality of life interference (EORTC QLQ C30-BN20 questionnaire) at specific longitudinal time points during therapy. The results were correlated with sociodemographic and clinical data.

RESULTS: From 2013 to 2017, 2500 prospective screening data points from 512 malignant brain tumour patients were analysed. DT was identified as a significant predictor for psycho-oncological treatment demand (p < 0.001). Particularly significant time points concerning psycho-oncological burden were primary diagnosis and tumour recurrence. Next to these known factors, here, patients < 65 years old and female patients (p = 0.018 and p = 0.017) reflected increased screening results, whereas partnership and professional activity (p = 0.043; p = 0.017) were identified as contributing factors to a significantly decreased treatment demand.

CONCLUSIONS: The increased need for psycho-oncological support for neurooncological patients is underlined. Psycho-oncological support should particularly be offered at the time points of primary diagnosis and tumour recurrence. To support the positive effect of caregivers, they should be involved at an early stage.

PMID:39329886 | PMC:PMC11431417 | DOI:10.3390/diseases12090217

Intracranial Myeloid Sarcoma Arising Intra-axially From Acute Myeloid Leukemia: A Case Report and Literature Review

Fetched: October 16th, 2024, 2:01am UTC by Akinori Kageyama

Cureus. 2024 Aug 27;16(8):e67884. doi: 10.7759/cureus.67884. eCollection 2024 Aug.

ABSTRACT

Intracranial myeloid sarcoma is a rare brain tumor and an extramedullary manifestation of malignant hematopoietic neoplasms of myeloid origin. A 76-year-old right-handed male patient was initially diagnosed with acute myeloid leukemia (AML; M4Eo). Three years later, the patient experienced headaches, dizziness, nausea, and gait disturbances. Magnetic resonance imaging of the head revealed a mass lesion that appeared to be extra-axial in the right cerebellum with well-defined borders that did not show contrast enhancement and was in contact with the dura mater. The patient underwent surgical tumor resection using the lateral suboccipital approach. The tumor did not attach to the dura mater, indicating susceptibility of an intra-axial tumor. Complete tumor resection was performed. The intraoperative pathological diagnosis revealed the involvement of AML characterized by small round cells diffusely increasing in size with angiogenesis and invasion of macrophages. In conclusion, we present a rare case of intracranial myeloid sarcoma arising intra-axially and originating from an AML that was treated with surgical tumor resection. Although it is difficult to determine whether the tumor was extra-axial or intra-axial on imaging, intracranial myeloid sarcoma should be considered as a differential disease when the patient has a history of hematological neoplasia, such as AML.

PMID:39328673 | PMC:PMC11426935 | DOI:10.7759/cureus.67884

Isolated Primary Central Nervous System Lymphoma of the Optic Nerve: A Case Report and Review of the Literature

Fetched: October 16th, 2024, 2:01am UTC by Keertana Jain

Neurologist. 2024 Sep 27. doi: 10.1097/NRL.0000000000000581. Online ahead of print.

ABSTRACT

INTRODUCTION: Optic nerve involvement in primary central nervous system lymphoma (PCNSL) has been reported only a few times in the literature, with generally dismal outcomes. We focused on an extremely rare presentation of PCNSL in an immunocompetent patient with isolated manifestations of the optic nerve.

CASE REPORT: A 72-year-old man presented with subacute vision loss in his left eye and optic disc swelling. Initial magnetic resonance imaging (MRI) of the orbits revealed a T2 hyperintense signal with enhancement of the left prechiasmatic optic nerve, suggestive of optic neuritis. He experienced visual improvement after 6 weeks of prednisone. However, 2 months after steroid tapering, he presented with worsening left-eye vision loss and new right-eye vision loss with imaging showing a peripherally enhancing chiasm lesion. A biopsy of the left optic nerve confirmed diffuse large B-cell lymphoma and negative systemic imaging was consistent with PCNSL. He was treated with high-dose methotrexate, rituximab, procarbazine vincristine (R-MVP), and cytarabine (AraC) with some visual improvement in the right eye and resolution of previously seen enhancement on MRI. The patient is in remission with no further deterioration of his vision.

CONCLUSION: This is the first reported case of isolated optic nerve involvement with a durable response to chemotherapy. This case emphasizes the importance of considering malignancy and maintaining a low threshold for optic nerve biopsy in patients with atypical cases of severe steroid-refractory vision loss with enhancement or enlargement of the optic nerve on MRI. Standard chemotherapy regimens for PCNSL can potentially achieve a curative response in these patients.

PMID:39327787 | DOI:10.1097/NRL.0000000000000581

Primary Central Nervous System Burkitt's Lymphoma in a Pediatric Patient: A Case Report and Literature Review

Fetched: October 16th, 2024, 2:01am UTC by Jian Zhao

J Pediatr Hematol Oncol. 2024 Oct 1;46(7):375-379. doi: 10.1097/MPH.0000000000002944. Epub 2024 Sep 26.

ABSTRACT

OBJECTIVE: The objective of this research is to examine the therapy and outlook of pediatric primary central nervous system Burkitt lymphomas.

METHODS: This study involves a retrospective analysis of the clinical data of a child with primary central nervous system Burkitt lymphoma who underwent treatment in our department. In addition, pertinent literature was reviewed to provide a comprehensive understanding of the topic.

RESULTS: The patient was admitted to the neurosurgery department with symptoms of headache and vomiting. Brain magnetic resonance imaging (MRI) revealed multiple lesions in the right frontal and temporal lobes, dorsal thalamus, and posterior medulla oblongata. Most of the tumor mass was surgically removed from the right ventricle and diagnosed as Burkitt lymphoma. Abnormal lymph nodes were not found outside of the central nervous system. The patient achieved complete remission (CR) after receiving 6 cycles of treatment (R-AA-BB-CC-AA-BB-CC) based on the regimen of the Southern Pediatric Non-Hodgkin Lymphoma Treatment Collaboration Group 2017. As of November 23, 2023, the patient remained alive with no evidence of recurrence.

CONCLUSIONS: Primary central nervous system Burkitt lymphoma is rare in children, and there is no universally accepted treatment protocol. However, the regimen outlined by the South China Children's Cancer Group-Non-Hodgkin Lymphoma in 2017 (SCCCG-NHL-2017) can serve as a useful reference for treating pediatric non-Hodgkin lymphoma.

PMID:39324884 | DOI:10.1097/MPH.0000000000002944

MALIGNANT TRANSFORMATION OF PREVIOULSY RADIATED VESTIBULAR SCHWANNOMA: 2D operative video

Fetched: October 16th, 2024, 2:01am UTC by Miguel Saez Alegre

World Neurosurg. 2024 Sep 23:S1878-8750(24)01631-0. doi: 10.1016/j.wneu.2024.09.082. Online ahead of print.

ABSTRACT

Malignant transformation of vestibular schwannomas, though rare, demands a comprehensive, multidisciplinary treatment approach to optimize patient outcomes. In this publication, we discuss the rare case of malignant transformation in a vestibular schwannoma post-radiation treatment, exemplified by a 58-year-old female patient. Initially diagnosed with a right cerebellopontine angle vestibular schwannoma, the patient underwent CyberKnife treatment 16 years ago, receiving 18 Gy across three fractions. Despite initial stability, the patient experienced progressive hearing loss, ultimately requiring a BAHA implant. Years later, she presented with rapid-onset facial weakness, dizziness, nausea, and vomiting, leading to a wheelchair-bound state and nutritional support upon admission. Advanced imaging revealed a significantly enlarged tumor, characterized by brain edema and suspicious hemorrhage, prompting urgent surgical intervention. Our multidisciplinary approach, including ENT collaboration, led to the decision for a right retrosigmoid craniotomy and meatotomy. This strategy aimed at maximal tumor resection while preparing for potential facial nerve sacrifice due to the suspected malignancy. Intraoperative findings confirmed the tumor's malignant nature, necessitating facial nerve resection. Postoperatively, the patient demonstrated clinical improvement and was discharged with plans for physical therapy and adjuvant radiation therapy, considering the tumor's malignant peripheral nerve sheath transformation. This case underscores the importance of vigilant monitoring for vestibular schwannoma patients, particularly those with rapid symptom progression and tumor growth, highlighting the crucial role of adjuvant radiotherapy in treatment regimens. This study received Institutional Review Board (IRB) approval. The patient featured in the video presentation provided informed consent for the use of their image and information.

PMID:39321915 | DOI:10.1016/j.wneu.2024.09.082

Giant cerebral tuberculoma mimicking tumor in a pediatric patient: A case report

Fetched: October 16th, 2024, 2:01am UTC by Muhamad Aufa Ni'ami

Radiol Case Rep. 2024 Sep 17;19(12):5908-5915. doi: 10.1016/j.radcr.2024.08.083. eCollection 2024 Dec.

ABSTRACT

Tuberculosis (TB) is an infection caused by Mycobacterium tuberculosis, an infectious disease endemic in developing countries. Indonesia is ranked second only to India in terms of TB incidence in the world. TB generally manifests in the respiratory system, which can then spread hematogeneously or lymphogeneously to extrapulmonary organs. Intracranial tuberculoma is a rare manifestation of TB when compared to the overall TB presentation. Central nervous system involvement ranges from 2-5% and increases to 15% in cases of AIDS-related TB, with the percentage of tuberculoma findings around 1% in other intracranial TB cases. The most common manifestation is tuberculous meningitis. Central nervous system (CNS) involvement is a severe manifestation of TB, with high mortality and neurological morbidity. In this case report, the author presented a 6-year-old girl with giant cerebral tuberculoma, which, at the time of surgery, resembled a neoplasm with a nonspecific history of TB. MRI can visualize abnormalities with specific characteristics; Clinically and radiologically, CNS TB can mimic other infections or noninfectious conditions such as neoplasms. Therefore, clinicians can take appropriate management actions in order to prevent mortality and disability due to sequelae in CNS TB cases.

PMID:39319173 | PMC:PMC11421474 | DOI:10.1016/j.radcr.2024.08.083

Sequencing of Checkpoint or BRAF/MEK Inhibitors on Brain Metastases in Melanoma

Fetched: October 16th, 2024, 2:01am UTC by Paolo A Ascierto

NEJM Evid. 2024 Oct;3(10):EVIDoa2400087. doi: 10.1056/EVIDoa2400087. Epub 2024 Sep 24.

ABSTRACT

BACKGROUND: The impact of the order of treatment with checkpoint inhibitors or BRAF/MEK inhibitors on the development of brain metastases in patients with metastatic unresectable BRAFV600-mutant melanoma is unknown. The SECOMBIT trial examined the impact of the order of receipt of these treatments in such patients.

METHODS: In this three-arm trial, we reviewed patients without brain metastases who received the BRAF/MEK inhibitors encorafenib and binimetinib until they had progressive disease followed by the immune checkpoint inhibitors ipilimumab and nivolumab (arm A); or treatment with ipilimumab and nivolumab until they had progressive disease followed by encorafenib and binimetinib (arm B); or treatment with encorafenib and binimetinib for 8 weeks followed by ipilimumab and nivolumab until they had progressive disease followed by retreatment with encorafenib arm binimetinib (arm C).

RESULTS: Brain metastases were discovered during the trial in 23/69 patients in arm A, 11/69 in arm B, and 9/68 in arm C. At a median follow-up of 56 months, the 60-month brain metastases-free survival rates were 56% for arm A, 80% for arm B (hazard ratio [HR] vs. A: 0.40, 95% confidence interval [CI] 0.23 to 0.58), and 85% for arm C (HR vs. A: 0.35, 95% CI 0.16 to 0.76).

CONCLUSIONS: In patients with unresectable metastatic melanoma, the treatment sequence of immune checkpoint inhibition followed by BRAF/MEK inhibitors was associated with longer periods of new brain metastases-free survival than the reverse sequence. A regimen in which immune checkpoint inhibition was sandwiched between BRAF/MEK inhibition also appeared to be protective against brain metastases. (ClinicalTrials.gov number NCT02631447.).

PMID:39315864 | DOI:10.1056/EVIDoa2400087

Ossified spinal epidermoid cyst: A systematic review and case report

Fetched: October 16th, 2024, 2:01am UTC by Gabrielle E A Hovis

Heliyon. 2024 Aug 28;10(18):e37093. doi: 10.1016/j.heliyon.2024.e37093. eCollection 2024 Sep 30.

ABSTRACT

BACKGROUND: Epidermoid cysts (ECs) are rare, benign lesions which comprise less than 1 % of all spinal tumors. Calcification of spinal ECs is rare, and EC ossification within the lumbar spine has never been documented. We report the only known congenital lumbar epidermoid tumor with ossification and a literature review of intradural lumbar ECs.

METHODS: Studies meeting the following criteria were included: 1) EC as the primary tumor type, 2) intradural location, 3) involvement of the lumbar spinal level, and 4) primary presentation. Studies lacking individual patient data or published in a non-English language were excluded.

RESULTS: A total of 172 studies were reviewed and 43 were included in analysis. Of the 83 total patients, 37 (45.1 %) were male and 45 (54.9 %) female, at an average age of 26 years. The L3 and L4 spinal levels were most frequently involved. Acquired etiology was reported in 49 (59.0 %) patients, and 24 (28.9 %) cases were congenital. Multivariate analyses demonstrated trends between decreased age and improved outcome, decreased delay in diagnosis and improved outcome, and increased extent of resection with reduced recurrence. Nine calcified spinal ECs were identified, with no previous report of EC ossification in the lumbar spine.

CONCLUSION: We present a case report of the only known ossified epidermoid tumor of the lumbar spine and a comprehensive literature review of 83 patients with intradural lumbar ECs. This review demonstrated trends between reduced age and improved outcome, reduced delay in diagnosis and improved outcome, and increased extent of resection with reduced recurrence.

PMID:39315203 | PMC:PMC11417560 | DOI:10.1016/j.heliyon.2024.e37093

A case of primary osteosarcoma in the occipital bone: A relatively common tumor in an uncommon location

Fetched: September 4th, 2024, 2:02am UTC by Kezhou Xing

Acta Radiol Open. 2024 Aug 30;13(9):20584601241279134. doi: 10.1177/20584601241279134. eCollection 2024 Sep.

ABSTRACT

Osteosarcomas predominantly manifest in the long bones of the extremities, with rare occurrences in the skull. A case involving of a 53-year-old female who presented to the authors' hospital for examination due to dizziness was incidentally found to have an occipital bone mass, which was initially diagnosed as a benign tumor and did not receive sufficient attention. Two years later, owing to tumor enlargement, the patient underwent further evaluation at the same institution, which revealed evidence of occipital bone destruction. Pathological analysis confirmed the diagnosis of osteosarcoma. The patient underwent surgical resection followed by radiotherapy. Despite its infrequency and uncharacteristic initial presentation, skull osteosarcomas should not be overlooked.

PMID:39224614 | PMC:PMC11366106 | DOI:10.1177/20584601241279134

Successful desensitization to etoposide in a patient after cardiac arrest

Fetched: September 4th, 2024, 2:02am UTC by S PÃ©rez-Codesido

J Oncol Pharm Pract. 2024 Sep 2:10781552241280723. doi: 10.1177/10781552241280723. Online ahead of print.

ABSTRACT

INTRODUCTION: Etoposide phosphate is a chemotherapeutic agent used to treat various malignant neoplasms. Hypersensitivity reactions may occur with its use, and in rare cases, an anaphylactic reaction can manifest. Available options for patients experiencing hypersensitivity reactions include premedication, changing treatment, or undergoing desensitization. Various pediatric desensitization protocols have been described, ranging from six to fifteen steps, while published adult cases are rare.

CASE REPORT: We report the case of a 61-year-old woman with small-cell lung cancer and brain metastases. In November 2019, she underwent the second cycle of cisplatin and etoposide phosphate treatment. While receiving etoposide phosphate, she experienced dyspnea and suffered a cardiorespiratory arrest, leading to cardiopulmonary resuscitation and subsequent admission to the Intensive Care Unit. Her acute tryptase levels were notably elevated at 18 Âµg/L (compared to a baseline tryptase level of 6,6 Âµg/L) during the reaction.

CASE MANAGEMENT: We implemented a 16-step desensitization protocol (without premedication) under close monitoring in an intermediate care unit. The protocol was successfully executed over three cycles until tumor progression mandated a modification in systemic treatment.

DISCUSSION: To our knowledge, this is the first documented case of successful desensitization to etoposide phosphate in a patient who experienced cardiac arrest during a hypersensitivity reaction. Although protocols of varying lengths have been published, we emphasize the importance of individualizing each protocol to fit the severity of the reaction and the resources and experience of each unit.

PMID:39223966 | DOI:10.1177/10781552241280723

A Rare Case of a Heterotopic Sacrococcygeal Glial Nodule

Fetched: September 4th, 2024, 2:02am UTC by William Moore

Cureus. 2024 Aug 3;16(8):e66085. doi: 10.7759/cureus.66085. eCollection 2024 Aug.

ABSTRACT

Heterotopic glial nodule is a rare congenital non-neoplastic lesion that is characterized by ectopic brain tissue. It has occasionally been reported to affect areas such as the nose and face. The report presents a rare case of sacrococcygeal heterotopic glial nodule. Although teratomas are the most common neoplasms in this region, clinicians and radiologists should consider heterotopic glial nodule as a differential diagnosis, despite rarity and nonspecific imaging findings. Histopathology plays a crucial role in diagnosis, which intensely stains with glial fibrillary acidic protein and S-100.

PMID:39224747 | PMC:PMC11368173 | DOI:10.7759/cureus.66085

The first case of Lynch syndrome associated penile cancer harboring a heterozygous PMS2 frameshift variant

Fetched: September 3rd, 2024, 2:01am UTC by Zhiqiang Wu

Urol Int. 2024 Sep 2. doi: 10.1159/000541252. Online ahead of print.

ABSTRACT

INTRODUCTION: Penile squamous cell carcinoma (PSCC) is a rare malignancy in men with poor survival in metastatic disease. Lynch syndrome (LS) is a cancer predisposition, autosomal-dominant, inherited disorder arises from loss of function variants in mismatch repair genes.

CASE PRESENTATION: Here, we reported a PSCC patient who was suspected with LS caused by a heterozygous PMS2 D526Afs*69 variant. A 57-year-old male with PSCC underwent pelvic lymph node dissection and bilateral groin lymph node dissection due to metastatic disease. He has a family history of colon cancer and brain cancer. Comprehensive genomic sequencing of his tumor specimen identified 19 somatic mutations with a high tumor mutation burden (14.03 mutations per Mb) and a high frequency of microsatellite instability (MSI-H). Additionally, a germline PMS2 D526Afs*69 mutation was identified in the peripheral blood sample. Immunohistochemistry analysis showed complete loss of PMS2 and MLH1 expression in his tumor cells.

CONCLUSION: These observations provided evidence suggesting that PSCC could be part of the LS spectrum.

PMID:39222623 | DOI:10.1159/000541252

Bilateral breast metastases from anaplastic lymphoma kinase-positive lung cancer in a male: a case report

Fetched: September 3rd, 2024, 2:01am UTC by Sumire Koh

J Med Case Rep. 2024 Sep 2;18(1):402. doi: 10.1186/s13256-024-04707-9.

ABSTRACT

BACKGROUND: Distant metastases from lung cancer are commonly found in the brain, bone, and liver. Metastases to the breast from non-mammary malignancies are extremely rare, and their clinical presentations remain unclear.

CASE PRESENTATION: We herein report a case of bilateral breast metastases from anaplastic lymphoma kinase-positive advanced lung cancer in a 51-year-old Japanese male patient. During the course of systemic treatment for advanced lung cancer, computed tomography revealed bilateral breast enlargement without contrast enhancement, a finding consistent with gynecomastia. While other metastatic lesions responded to chemotherapy, both breast masses grew vertically like nodules. The breast masses were immunohistochemically diagnosed as metastases from lung cancer and were removed surgically. Simultaneous bilateral breast metastases from malignancies of other organs, like ones in this case, have rarely been described.

CONCLUSIONS: It is important to keep in mind that breast metastases from nonmammary malignancies are a possible explanation for unusual breast findings in a patient with a history of malignancies.

PMID:39218906 | PMC:PMC11367847 | DOI:10.1186/s13256-024-04707-9

Ventricular cardiac hemangiosarcoma with brain metastases in a dog

Fetched: September 3rd, 2024, 2:01am UTC by J Yan

J Vet Cardiol. 2024 Aug 16;55:32-37. doi: 10.1016/j.jvc.2024.08.004. Online ahead of print.

ABSTRACT

An 11-year-old, female, spayed, soft-coated Wheaten terrier presented for acute onset of neurological signs. On presentation, neurological examination showed right thoracic and pelvic limb proprioceptive deficits, absent right menace reflex, and weak right nasal septum response. A left thalamocortical lesion was localized. On thoracic auscultation, an arrhythmia was noted, and electrocardiography showed frequent ventricular premature complexes and rare runs of ventricular tachycardia. Echocardiography identified an interventricular septal mass extending into the lumen of the left ventricle. Thalamocortical metastasis secondary to the cardiac mass was suspected to be the cause of the patient's neurological signs. Humane euthanasia was elected by the owner due to the patients clinical status and poor prognosis. A postmortem examination diagnosed hemangiosarcoma of the interventricular septum, the right ventricular free wall, and left ventricular free wall. The left ventricle adjacent to the paraconal groove showed myocardial necrosis and inflammation. Metastases to the brain and secondary intracranial hemorrhage were found which were suspected to be the cause of the antemortem neurological signs. Concurrent pulmonary and hepatic metastases were noted. This report describes a rare presentation of an intracardiac hemangiosarcoma of the interventricular septum, right ventricle, and left ventricle in a patient presenting with neurological signs.

PMID:39217731 | DOI:10.1016/j.jvc.2024.08.004

A Patient Diagnosed With Rare Central Neurocytoma: A Case Report

Fetched: September 2nd, 2024, 2:01am UTC by Bilal ErtuÄŸrul

Neurol India. 2024 Jul 1;72(4):887-888. doi: 10.4103/neurol-india.Neurol-India-D-23-00667. Epub 2024 Aug 31.

NO ABSTRACT

PMID:39216055 | DOI:10.4103/neurol-india.Neurol-India-D-23-00667

Prolactin Secreting Pituitary Carcinoma and the Role of Peptide Receptor Radionuclide Therapy: A Brief Report

Fetched: September 2nd, 2024, 2:01am UTC by Nitish Agarwal

Neurol India. 2024 Jul 1;72(4):871-876. doi: 10.4103/neurol-india.Neurol-India-D-24-00529. Epub 2024 Aug 31.

ABSTRACT

Pituitary carcinoma is a rare entity comprising 0.1-0.2% of all pituitary tumors and presents significant diagnostic and therapeutic challenges. Intraspinal drop metastasis in these tumors is even rarer. We report a case of a prolactin secreting pituitary carcinoma with intracranial metastasis and multiple intraspinal drop metastasis. This is the first case where 68Gallium labelled [1,4,7,10 - tetraazacyclododecane - 1,4,7,10 - tetraacetic acid] -1- NaI3 - octreotide (68Ga-DOTANOC) whole-body positron emission tomography-computed tomography (PET-CT) has been used in a case of malignant prolactinoma, in an attempt to ascertain the somatostatin receptor (SSTR) expression on tumor cells. Through this paper, we suggest that SSTR targeted radionuclide therapy could have a potential role in aggressive pituitary tumors and pituitary carcinomas similar to the promising role of lutetium-labelled peptides in inoperable or metastasized gastroentero-pancreatic neuroendocrine tumors (GEP-NETs).

PMID:39216050 | DOI:10.4103/neurol-india.Neurol-India-D-24-00529

Permalink for 'Double-hit primary central nervous system lymphoma with histogenetically proven bone marrow infiltration: a case report and a review of the literature'

Double-hit primary central nervous system lymphoma with histogenetically proven bone marrow infiltration: a case report and a review of the literature

Fetched: September 2nd, 2024, 2:01am UTC by Koki Onodera

Brain Tumor Pathol. 2024 Aug 31. doi: 10.1007/s10014-024-00490-z. Online ahead of print.

ABSTRACT

Double-hit lymphoma (DHL) formerly referred to high-grade B-cell lymphoma with concurrent MYC and BCL2 or BCL6 rearrangements, however, the updated 2022 World Health Organization Classification (5th edition online) excludes those with MYC and BCL 6 rearrangements from the high-grade category. DHL confined to the central nervous system (CNS), known as double-hit primary CNS lymphoma (DH-PCNSL), is rare with poorly understood clinical features. Here, we report a case of a 64-year-old man with multiple brain tumors diagnosed with DH-PCNSL who showed bone marrow (BM) infiltration early in the clinical course. The histological diagnosis was high-grade B-cell lymphoma with MYC and BCL6 rearrangements. Fluorodeoxyglucose positron emission tomography (FDG-PET) revealed no abnormal accumulation except in the CNS. The patient received whole-brain radiotherapy following the failure of high-dose methotrexate. After completion of radiotherapy, the patient developed thrombocytopenia, and BM biopsy showed infiltration of DHL cells, which were not detected by repeated FDG-PET. This is the first report of DH-PCNSL where identical gene rearrangements were confirmed in both the resected CNS tumor and BM tissue. Patients with DH-PCNSL require careful follow-up because they may be at a potential risk of BM infiltration, which may be undetectable by FDG-PET, particularly early in the disease course.

PMID:39215902 | DOI:10.1007/s10014-024-00490-z

Activation of Wnt/Î²-catenin signaling is critical for the tumorigenesis of choroid plexus

Fetched: September 2nd, 2024, 2:01am UTC by Kim Hoa Ho

Neuro Oncol. 2024 Aug 31:noae176. doi: 10.1093/neuonc/noae176. Online ahead of print.

ABSTRACT

BACKGROUND: Choroid plexus (ChP) is the secretory epithelial structure located in brain ventricles. Choroid plexus tumors (CPTs) are rare neoplasms predominantly occurring in young patients with intensified malignancy in children. CPT treatment is hindered by insufficient knowledge of the tumor pathology and limited availability of valid models.

METHODS: Genomic and transcriptomic data from CPT patients were analyzed to identify the putative pathological pathway. Cellular and molecular techniques were employed to validate bioinformatic results in CPT patient samples. Pharmacologic inhibition of Wnt/Î²-catenin signaling was assessed in CPT cells. Cell-based assays of ChP cell lines were performed following CRISPR-Cas9-derived knockout and over-expression of Wnt/Î²-catenin pathway genes. 3D CPT model was generated through CRISPR-Cas9-derived knockout of APC.

RESULTS: We discovered that Wnt/Î²-catenin signaling is activated in human CPTs, likely as a consequence of large-scale chromosomal instability events of the CPT genomes. We demonstrated that CPT-derived cells depend on autocrine Wnt/Î²-catenin signaling for survival. Constitutive Wnt/Î²-catenin pathway activation, either through knock-out of the negative regulator APC or overexpression of the ligand WNT3A, induced tumorigenic properties in ChP 2D in vitro models. Increased activation of Wnt/Î²-catenin pathway in ChP organoids, through treatment with a potent GSK3Î² inhibitor, reduced the differentiation of mature ChP epithelia cells. Remarkably, the depletion of APC was sufficient to induce the oncogenic transformation of ChP organoids.

CONCLUSIONS: Our research identifies Wnt/Î²-catenin signaling as a critical driver of CPT tumorigenesis and provides the first 3D in vitro model for future pathological and therapeutic studies of CPT.

PMID:39215664 | DOI:10.1093/neuonc/noae176

Permalink for 'From cortisol-producing adrenal adenoma to atrial myxoma, through nivolumab-induced hypophysitis: a complicated case report of Carney Complex'

From cortisol-producing adrenal adenoma to atrial myxoma, through nivolumab-induced hypophysitis: a complicated case report of Carney Complex

Fetched: September 2nd, 2024, 2:01am UTC by Ludovico Di Gioia

Endocrine. 2024 Sep 1. doi: 10.1007/s12020-024-03997-9. Online ahead of print.

ABSTRACT

PURPOSE: Carney complex (CNC) is a rare, autosomal dominant syndrome, most commonly caused by PRKAR1A gene mutations and characterized by pigmented skin and mucosal changes with multiple endocrine and non-endocrine tumours. This case report highlights the diagnostic challenges associated with CNC in a patient with multiple neoplasms and a complex medical history, including cortisol-producing adrenal adenoma, breast cancer, melanoma, and atrial myxoma.

METHODS: We report the case of a 41-year-old woman with a medical history of left adrenalectomy for cortisol producing adenoma (2005) with no sign of adrenal insufficiency at follow-up, right mastectomy for BRCA1/2 negative carcinoma (2013) and left parotid BRAF-V600E wild-type melanoma (2019), treated with nivolumab adjuvant therapy. In August 2019, following the fifth nivolumab administration, the patient developed central hypocortisolism due to iatrogenic hypophysitis, confirmed by brain MRI and properly treated with oral hydrocortisone. Nivolumab was discontinued due to the patient's decision. In October 2020 and April 2021, the patient had ischaemic strokes, requiring systemic thrombolysis. Echocardiographic examination then revealed a left atrial mass, with histological finding of myxoma.

RESULTS: Given the rarity of this neoplasm and the suspicion of a syndromic disorder, a genetic evaluation was conducted, which confirmed a PRKAR1A gene mutation and the diagnosis of Carney complex.

CONCLUSION: This case illustrates the diagnostic challenges in CNC, especially in patients with multiple tumourous manifestations and a wide spectrum of life-threatening clinical presentations. It underscores the importance of a multidisciplinary approach to diagnose and manage rare diseases, improving patient outcomes through timely genetic testing and coordinated care.

PMID:39217593 | DOI:10.1007/s12020-024-03997-9

Isolated primary CNS lymphoma after liver transplantation for autoimmune hepatitis: a case report

Fetched: September 1st, 2024, 2:01am UTC by Alaa Zayed

BMC Neurol. 2024 Aug 30;24(1):305. doi: 10.1186/s12883-024-03832-8.

ABSTRACT

Post-transplantation primary central nervous system lymphoma (PT-PCNSL) is a rare neoplasm that occurs in immunocompromised patients. It can manifest months or years after transplantation, presenting with various neurological symptoms. A 64-year-old woman, who had received a liver transplant due to autoimmune hepatitis, presented with generalized weakness, headache, and confusion. Further investigation revealed multiple ring-enhancing lesions in the right frontal and temporoparietal regions on brain MRI. A brain biopsy confirmed the diagnosis of PT-PCNSL. This case underscores the importance of considering PT-PCNSL in the differential diagnosis of contrast-enhancing brain lesions in post-transplant patients. Timely recognition of PT-PCNSL is crucial for appropriate management and improved outcomes. To the best of our knowledge, this report describes the first instance of isolated CNS lymphoma in a liver transplant recipient, due to autoimmune hepatitis, successfully brought to complete remission with a rituximab-methotrexate regimen.

PMID:39215224 | PMC:PMC11363406 | DOI:10.1186/s12883-024-03832-8

Basal ganglia germinoma presenting with visual loss in male adult: A case report

Fetched: September 1st, 2024, 2:01am UTC by Vega Pangaribuan

Int J Surg Case Rep. 2024 Aug 29;123:110225. doi: 10.1016/j.ijscr.2024.110225. Online ahead of print.

ABSTRACT

INTRODUCTION: Basal ganglia germ cell tumor (GCT) in an adult has been rarely reported Intracranial germ cells tumor usually occurs in the midline axis, involving pituitary, sellar region, or both. Only in rare circumstances GCTs developed in basal ganglia.

CASE PRESENTATION: A 27-year-old male came to our academic general hospital outpatient clinic with main complaint of progressive visual loss of his right eye which started a year ago. Despite his visits to the opthalmologist, the complaint worsen. A brain MRI revealed a large left basal ganglia tumor with involvement of the hypothalamus and uncus, causing pressure on the optic and occulomotor nerve. Interestingly, the patient had no decrease in motor function. Complaint of severe headache, persistent vomiting, and decrease of vision of his left eye prompt us to conduct an urgent craniotomy tumor excision. As the patient had no motor deficit prior to surgery, we chose to do a transcortical approach through the left kocher point, entering the left ventricle, and accessing the tumor from the floor of the frontal horn.

DISCUSSION: GCT is a rare and diverse group of tumors based on histology. It is more common in men and mostly affects the pediatric and adolescent populations. Usually located in the sellar or pineal regions, this tumor may infrequently spread to the basal ganglia. The gold standard for diagnosing germ cell tumors is histopathological analysis, particularly in regions of the basal ganglia with a wide range of potential aetiologies. Obtaining a biopsy sample surgically is difficult, particularly for patients whose motor function is preserved. The surgical strategy should be tailored to the patient's radiological and clinical results, ideally taking the surgeon's preferences into account as well.

CONCLUSION: Basal ganglia germinoma in adult is a rare occurrence, and due to its location, the surgical approach to access the mass should be individualized in each patient. Transcortical approach from the left kocher's point was a safe and accessible approach for our patient.

PMID:39213929 | DOI:10.1016/j.ijscr.2024.110225

Plexiform Neurofibroma: A Case Report

Fetched: September 1st, 2024, 2:01am UTC by Kshitij Bang

Cureus. 2024 Jul 30;16(7):e65747. doi: 10.7759/cureus.65747. eCollection 2024 Jul.

ABSTRACT

Neurofibromatosis is a group of genetic disorders that primarily impact the growth of neural tissues, leading to multiple tumors on nerve tissues in the brain, spinal cord, and peripheral nerves. As an autosomal dominant condition, it involves mutations in the neurofibromatosis type 1 (NF1) tumor-suppressor gene, inherited in a recessive manner. Plexiform neurofibroma is a rare manifestation. It is a benign peripheral nerve sheath tumor that grows beneath the skin or deeper within tissues without clear boundaries. The diverse presentations of NF1 necessitate careful, personalized medical management to address the disorder's effects on various organs. Due to its progressive nature, early diagnosis is crucial to prevent complications. Comprehensive care, including psychological support and long-term monitoring, is essential for enhancing the quality of life of NF1 patients. By adopting a proactive and holistic approach, healthcare providers can better assist patients in managing this complex condition.

PMID:39211690 | PMC:PMC11360948 | DOI:10.7759/cureus.65747

A Case of Spinal Cavernous Hemangioma with Rapidly Worsening Neurological Symptoms after COVID-19 Infection

Fetched: September 1st, 2024, 2:01am UTC by Nobuyuki Arai

Prog Rehabil Med. 2024 Aug 29;9:20240027. doi: 10.2490/prm.20240027. eCollection 2024.

ABSTRACT

BACKGROUND: : COVID-19 can cause respiratory symptoms, as well as various complications and sequelae. This report describes a patient with worsening neurological symptoms caused by a spinal cavernous hemangioma after infection with COVID-19. Cavernous hemangioma usually occurs in the upper part of the brain (70%-90%) and rarely occurs in the spinal cord (5%-7%). Approximately 65% of cases of intramedullary spinal cavernous hemangioma present with neurological symptoms, and more than half of these cases show a slow worsening of symptoms. This is a rare case of intramedullary spinal cavernous hemangioma with cysto-rectal involvement in which neurological symptoms rapidly worsened following COVID-19 infection.

CASE: : A woman in her 30s was admitted to the hospital because of the sudden onset of muscle weakness in both lower limbs and cysto-rectal disturbances after COVID-19 infection. She was diagnosed with a hemorrhage from a spinal cord tumor and underwent emergency resection. The pathological diagnosis was a spinal cavernous hemangioma. At first, she had a spinal cord injury (third thoracic vertebrae; American Spinal Injury Association Impairment Scale, C; Frankel classification, B; with cysto-rectal impairment), but 2 months later, she started walking with knee-ankle-foot orthoses and parallel bars. After 3 months, she could move independently around the ward using a wheelchair. Upon discharge, the patient could walk with ankle-foot orthoses and Lofstrand crutches.

DISCUSSION: : COVID-19 is associated with various extrapulmonary manifestations and may increase the risk of hemorrhage in cases of intramedullary spinal cavernous hemangioma.

PMID:39211535 | PMC:PMC11350290 | DOI:10.2490/prm.20240027

Permalink for 'Acute Hemorrhagic-Onset Atypical Meningioma: A Report of Two Cases with Emergent Resection Achieving Mid-Term Tumor Control and Neurological Preservation'

Acute Hemorrhagic-Onset Atypical Meningioma: A Report of Two Cases with Emergent Resection Achieving Mid-Term Tumor Control and Neurological Preservation

Fetched: September 1st, 2024, 2:01am UTC by Takahiro Tsuchiya

Asian J Neurosurg. 2024 Jun 25;19(3):526-530. doi: 10.1055/s-0043-1771328. eCollection 2024 Sep.

ABSTRACT

The majority of meningiomas are slow-growing benign tumors that can potentially be highly vascularized; however, acute hemorrhagic onset is rare. Herein, we describe two patients who presented with disturbance of consciousness and severe hemiplegia due to spontaneous hemorrhage from a falx atypical meningioma. A 49-year-old female presenting with a sudden disturbance of consciousness and severe left hemiplegia was found to have a falx meningioma and acute hemorrhage. Emergent resection achieved neurological relief and tumor control. A 60-year-old female with aphasia and severe right hemiplegia also had falx meningioma and hematoma, and successfully treated by emergent resection. Tumor was diagnosed as atypical meningioma in both cases. Both patients achieved mid-term tumor control for 4 and 7 years. Both patients were treated successfully with emergent surgical resection, and neurological relief and mid-term tumor control (7 and 4 years, respectively) were achieved. Given this success, immediate surgical resection with hematoma evacuation should be considered an acceptable therapeutic option for acute hemorrhagic atypical meningioma.

PMID:39205900 | PMC:PMC11349391 | DOI:10.1055/s-0043-1771328

Intramedullary Metastases to Conus Medullaris: A Review of the Literature with a Case Illustration

Fetched: September 1st, 2024, 2:01am UTC by Serdar Kaya

Brain Sci. 2024 Jul 29;14(8):761. doi: 10.3390/brainsci14080761.

ABSTRACT

Introduction: Intramedullary metastases to the conus medullaris spinalis (IMCM) pose a rare problem in neurosurgical oncology and are usually encountered as a complicated clinical scenario in the setting of advanced systemic malignancy with poor overall survival. Despite the progress in interdisciplinary oncological care, their management remains complicated. Research Question: We performed a PRISMA-guided literature search to achieve a pooled analysis of all previously reported IMCM cases that contained detailed clinical data on this problem to investigate the currently employed management options and respective outcomes. We obtained a clinical vignette and performed a comprehensive narrative review of IMCM management. Materials and Methods: The PubMed/MEDLINE/Google Scholar, Cochrane and Embase databases were systematically searched according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. All relevant publications retrieved were subjected to full-text analysis in detail and pertinent information was extracted. Results: The most common systemic primary tumor site as the origin of IMCM was the lung, followed by the breast. Overall, the pooled median survival was 6 months (range 0.5-36 months). Patients who received both surgery and radiation therapy had the longest overall survival (OS) (mean 9.9 months) and those who received no oncological treatment (neither surgery nor adjuvant therapy) had the shortest OS (mean 3.6 months). In cases where surgical resection was performed as part of the treatment plan for metastases, those with partial tumor resection had a more favorable neurological outcome than patients who underwent aggressive gross total resection. Conclusions: Based on the results of our analysis, we find that diligent microsurgical resection (subtotal or total) followed by radiation therapy appears as an effective and suitable treatment in select patients with IMCM. When surgery is not feasible as part of the treatment algorithm, radiation therapy alone (conventional or radiosurgery) also appears to be a suitable treatment option that confers a benefit to the patient.

PMID:39199455 | PMC:PMC11352703 | DOI:10.3390/brainsci14080761

Permalink for 'Case report: A case of Savolitinib in the treatment of MET amplification mutation advanced lung adenocarcinoma with rare bilateral breast metastasis'

Case report: A case of Savolitinib in the treatment of MET amplification mutation advanced lung adenocarcinoma with rare bilateral breast metastasis

Fetched: August 29th, 2024, 2:01am UTC by Rui Deng

Front Oncol. 2024 Aug 13;14:1450855. doi: 10.3389/fonc.2024.1450855. eCollection 2024.

ABSTRACT

BACKGROUND: The distant metastasis of lung cancer primarily occurs in the bones, liver, brain, and lungs, while the breast is an extremely rare site of metastasis. There is very limited literature on the occurrence of breast metastasis from lung cancer, and metastatic lesions in the breast are prone to being misdiagnosed as primary breast cancer, requiring careful attention and differentiation in the clinical diagnostic and treatment process.

CASE SUMMARY: The patient, a 63-year-old female, initially presented with an EGFR exon 21 L858R mutated left lung adenocarcinoma in 2017, treated successfully with surgical resection and subsequent monitoring. The relapse of disease occurred in January 2020. Despite maintaining a prolonged progression-free survival (PFS) with first-generation EGFR-TKI Afatinib, disease progression occurred in 2022 without detectable resistance mutations. Transition to second-generation TKI Furmonertinib resulted in poor control, with rapid progression including unusual bilateral breast metastases that exhibited inflammatory breast cancer-like peau d'orange changes. Standard chemotherapy achieved only short-term stability. Upon detecting a MET amplification mutation, treatment with Savolitinib was initiated. Remarkably, this led to significant clinical and radiographic improvement, notably resolving the peau d'orange appearance and reducing multiple lesions across the body.

CONCLUSION: This case underscores the importance of continuous genetic profiling and tailored treatment approaches in managing advanced lung adenocarcinoma, particularly when presenting with rare metastatic sites and complex genetic landscapes. The successful application of Savolitinib following the identification of a MET amplification mutation highlights its potential in overcoming resistance mechanisms in NSCLC, providing a significant therapeutic option for similarly challenging cases.

PMID:39193383 | PMC:PMC11347308 | DOI:10.3389/fonc.2024.1450855

Intraparenchymal Chordoma in the Brain Stem: A Review of Surgical Management and Case Highlight

Fetched: August 29th, 2024, 2:01am UTC by Malek Bashti

Cureus. 2024 Aug 27;16(8):e67937. doi: 10.7759/cureus.67937. eCollection 2024 Aug.

ABSTRACT

We present a rare case of an intraparenchymal chordoma in the brain stem of a 69-year-old male with a history of multiple chordoma recurrences. Chordomas are uncommon tumors that originate from notochordal remnants, with intraparenchymal presentations in the brain stem being particularly rare. A 69-year-old male with a history of clival chordoma three years after primary endoscopic resection and adjuvant proton-beam radiotherapy and a recurrence one year postoperatively for which he underwent a second surgery, presented with severe headaches, weakness, diaphoresis, and difficulty ambulating. Head CT in the ER revealed a 2.7 x 3.5 cm hyperdense lesion in the pons, indicating acute hemorrhage. Magnetic resonance imaging (MRI) suggested a hemorrhagic radiation-induced cavernoma. A right retrosigmoid craniotomy was performed, and the lesion was resected without major complications. Final pathology reported an intraparenchymal hemorrhagic chordoma. To our knowledge, this is the first case of intra-axial chordoma, particularly in the brain stem. It highlights the importance of considering intraparenchymal chordoma on the differential when evaluating for recurrence versus other treatment-induced pathologies and changes. This may prompt the neurosurgeon to reconsider treatment options and weigh the risks of watchful waiting versus biopsy or even aggressive surgical management.

PMID:39193055 | PMC:PMC11348949 | DOI:10.7759/cureus.67937

First step results from a phase II study of a dendritic cell vaccine in glioblastoma patients (CombiG-vax)

Fetched: August 29th, 2024, 2:01am UTC by Laura Ridolfi

Front Immunol. 2024 Aug 13;15:1404861. doi: 10.3389/fimmu.2024.1404861. eCollection 2024.

ABSTRACT

BACKGROUND: Glioblastoma (GBM) is a poor prognosis grade 4 glioma. After surgical resection, the standard therapy consists of concurrent radiotherapy (RT) and temozolomide (TMZ) followed by TMZ alone. Our previous data on melanoma patients showed that Dendritic Cell vaccination (DCvax) could increase the amount of intratumoral-activated cytotoxic T lymphocytes.

METHODS: This is a single-arm, monocentric, phase II trial in two steps according to Simon's design. The trial aims to evaluate progression-free survival (PFS) at three months and the safety of a DCvax integrated with standard therapy in resected GBM patients. DCvax administration begins after completion of RT-CTwith weekly administrations for 4 weeks, then is alternated monthly with TMZ cycles. The primary endpoints are PFS at three months and safety. One of the secondary objectives is to evaluate the immune response both in vitro and in vivo (DTH skin test).

RESULTS: By December 2022, the first pre-planned step of the study was concluded with the enrollment, treatment and follow up of 9 evaluable patients. Two patients had progressed within three months after leukapheresis, but none had experienced DCvax-related G3-4 toxicities Five patients experienced a positive DTH test towards KLH and one of these also towards autologous tumor homogenate. The median PFS from leukapheresis was 11.3 months and 12.2 months from surgery.

CONCLUSIONS: This combination therapy is well-tolerated, and the two endpoints required for the first step have been achieved. Therefore, the study will proceed to enroll the remaining 19 patients. (Eudract number: 2020-003755-15 [https:]

PMID:39192978 | PMC:PMC11347333 | DOI:10.3389/fimmu.2024.1404861

Malignant Pericardial Effusion from Cervical Squamous Cell Carcinoma: A Case Study

Fetched: August 29th, 2024, 2:01am UTC by Sunder Sham

Am J Case Rep. 2024 Aug 28;25:e943013. doi: 10.12659/AJCR.943013.

ABSTRACT

BACKGROUND Cervical cancer ranks fourth globally among women's cancers. Squamous cell carcinoma constitutes 70% of cervical cancer cases, often metastasizing to lungs and paraaortic nodes. Uncommon sites include the brain, skin, spleen, and muscle, while pericardial fluid metastasis is highly rare. We report a case of squamous cell carcinoma of the uterine cervix that was metastatic to the pericardium and was detected on cytologic evaluation of pericardial fluid. CASE REPORT A 42-year-old woman who was previously treated for stage III squamous cell carcinoma of the cervix presented with symptoms of cough, fever, and shortness of breath for 8 days, and chest pain for 3 days. Clinical workup revealed pericardial effusion, with spread to the lungs and mediastinal and hilar lymph nodes. Cytological analysis of the fluid showed malignant cells, consistent with metastatic squamous cell carcinoma. Immunohistochemistry demonstrated cells positive for p63 and p40, while negative for GATA-3, D2-40, calretinin, and WT1. These findings in conjunction with patient's known history of cervical squamous cell carcinoma was consistent with a cytologic diagnosis of metastatic squamous cell carcinoma to pericardial fluid. CONCLUSIONS History and clinical correlation plays a vital role in determining the primary site causing malignant pericardial effusions. While the occurrence of cervical cancer metastasizing to the pericardium is uncommon, it should be considered, particularly in cases involving high-grade, invasive tumors, recurrences, or distant metastases. This possibility should be included in the list of potential diagnoses when encountering pericardial effusions with squamous cells in female patients.

PMID:39192560 | DOI:10.12659/AJCR.943013

Hypothalamic obesity: Epidemiology in rare sellar/suprasellar tumors-A German claims database analysis

Fetched: August 28th, 2024, 2:01am UTC by Julian Witte

J Neuroendocrinol. 2024 Aug 27:e13439. doi: 10.1111/jne.13439. Online ahead of print.

ABSTRACT

Hypothalamic obesity (HO) is defined as abnormal weight gain resulting in severe persistent obesity due to physical, tumor- and/or treatment-related damage to the hypothalamus. HO epidemiology is poorly understood. We developed a database algorithm supporting the standardized identification of tumor/treatment-related HO (TTR-HO) patients. The algorithm is used to estimate incidence rates of TTR-HO patients in the German healthcare context from a representative claims database (n = 5.42 million) covering 2010-2020. Patients were identified based on surgery/radiotherapy procedures and HO-associated tumor diagnoses (n = 3976). HO was defined by incident obesity and validated based on incident diabetes insipidus diagnoses and desmopressin prescription within a 12-month period after surgery/radiotherapy. Uncertainty due to algorithm definitions is explored in sensitivity analyses. Estimated annual incidence of TTR-HO in Germany is between 0.7 and 1.7 cases per 1,000,000 persons (2019 prevalence: n = 1262 patients). With observed cases in all age groups, two HO-incidence peaks are identified: children/young adults aged 10-24 years and adults aged 40-44 years. Most frequent HO-validated tumor diagnoses are benign sellar/suprasellar tumors (6.1/1,000,000 persons over 9 years), including tumors of the craniopharyngeal duct (1.3/1,000,000), neoplasms of the pituitary gland (4.1/1,000,000), and nonspecific brain tumors of endocrine glands (2.4/1,000,000). This is the first real-world database analysis of TTR-HO epidemiology, refining current estimates of HO epidemiology and early patient identification. A more comprehensive characterization of patients with HO as well as a better understanding of clinical implications will be crucial in developing optimal treatment strategies to improve patient outcomes.

PMID:39191454 | DOI:10.1111/jne.13439

Permalink for 'Stereotactic radiosurgery for brain metastases from human epidermal receptor 2 positive breast Cancer: an international, multi-center study'

Stereotactic radiosurgery for brain metastases from human epidermal receptor 2 positive breast Cancer: an international, multi-center study

Fetched: August 28th, 2024, 2:01am UTC by Stylianos Pikis

J Neurooncol. 2024 Aug 27. doi: 10.1007/s11060-024-04775-3. Online ahead of print.

ABSTRACT

PURPOSE: To report patient outcomes and local tumor control rates in a cohort of patients with biopsy-proven HER-2 positive breast cancer treated with stereotactic radiosurgery (SRS) for brain metastases (BM).

METHODS: This international, retrospective, multicenter study, included 195 female patients with 1706 SRS-treated BM. Radiologic and clinical outcomes after SRS were determined and prognostic factors identified.

RESULTS: At SRS, median patient age was 55 years [interquartile range (IQR) 47.6-62.0], and 156 (80%) patients had KPS â‰¥ 80. The median tumor volume was 0.1 cm³ (IQR 0.1-0.5) and the median prescription dose was 16 Gy (IQR 16-18). Local tumor control (LTC) rate was 98%, 94%, 93%, 90%, and 88% at six-, 12-, 24-, 36- and 60-months post-SRS, respectively. On multivariate analysis, tumor volume (p = < 0.001) and concurrent pertuzumab (p = 0.02) improved LTC. Overall survival (OS) rates at six-, 12-, 24-, 36-, 48-, and 60-months were 90%, 69%, 46%, 27%, 22%, and 18%, respectively. Concurrent pertuzumab improved OS (p = 0.032). In this patient subgroup, GPA scores â‰¥ 2.5 (p = 0.038 and p = 0.003) and rare primary tumor histologies (p = 0.01) were associated with increased and decreased OS, respectively. Asymptomatic adverse radiation events (ARE) occurred in 27 (14.0%) and symptomatic ARE in five (2.6%) patients. Invasive lobular carcinoma primary (p = 0.042) and concurrent pertuzumab (p < 0.001) conferred an increased risk for overall but not for symptomatic ARE.

CONCLUSION: SRS affords effective LTC for selected patients with BM from HER-2 positive breast cancer. Concurrent pertuzumab improved LTC and OS but at the same time increased the risk for overall, but not symptomatic, ARE.

PMID:39192068 | DOI:10.1007/s11060-024-04775-3

Permalink for 'Clinical characteristics of overlapping syndrome in patients with GFAP-IgG and MOG-IgG: a case series of 8 patients and literature review'

Clinical characteristics of overlapping syndrome in patients with GFAP-IgG and MOG-IgG: a case series of 8 patients and literature review

Fetched: August 28th, 2024, 2:01am UTC by Ting Fang

J Neurol. 2024 Aug 27. doi: 10.1007/s00415-024-12633-5. Online ahead of print.

ABSTRACT

OBJECTIVE: The overlapping syndrome of anti-GFAP and anti-MOG antibodies is extremely rare. This retrospective study reports 8 adult cases of the GFAP-MOG overlapping syndrome.

METHODS: We reviewed the clinical characteristics of 8 adult patients with the GFAP-MOG overlapping syndrome from Jan 2019 and Sep 2023 at the Third Affiliated Hospital, Sun Yat-sen University. Moreover, we searched the literature and included all case reports with this overlapping syndrome since 2018 on PubMed.

RESULTS: The predominant clinical syndrome was meningoencephalomyelitis (5/8), followed by meningoencephalitis (2/8), and myelitis (1/8). Five patients had a flu-like prodromal symptom or diarrhea. No neoplasms were found in these patients. Regarding brain MRI, T2-weighted/fluid-attenuated inversion recovery hyperintensities were in 7 patients and leptomeningeal enhancement was in 4 patients. However, only one patient had periventricular radial linear enhancement. Besides, two patients had large space-occupying lesions. For spinal MRI, T2-hyperintensities were observed in 4 patients, in which 3 patients had longitudinally extensive lesions. All patients were treated with immunotherapy, the median follow-up period was 18 months (range, 3-36 months). Three patients presented relapses during the follow-up, but all cases recovered to mRS scores â‰¤ 2 at last follow-up. In addition, we also reviewed 14 cases (including 7 adults and 7 children) with this overlapping syndrome by literature review.

CONCLUSION: Our findings provide data to understand the clinical features and prognosis of the GFAP-MOG overlapping syndrome. Recognizing this overlapping syndrome will expand our knowledge, allowing for better management of these patients.

PMID:39190107 | DOI:10.1007/s00415-024-12633-5

Brain metastases from a thymoma: Case report for a rare secondary localization

Fetched: August 28th, 2024, 2:01am UTC by Ghassen Gader

Radiol Case Rep. 2024 Aug 3;19(10):4531-4534. doi: 10.1016/j.radcr.2024.07.025. eCollection 2024 Oct.

ABSTRACT

Thymomas are benign epithelial neoplasms originating from the thymus gland and are among the most common primary mediastinal tumors. Malignancy is typically determined by evidence of pathological invasion beyond the capsule, with local invasion being the primary mode of spread to adjacent organs. Distant metastases are exceedingly rare. We present the case of a 63-year-old man who exhibited symptoms suggestive of increased intracranial pressure and motor deficit. Brain imaging revealed multiple intracranial lesions. Surgical intervention was performed to excise the largest lesion. Subsequent body CT scan and pathological examination confirmed that the brain metastases originated from a primary thymoma, classified as B3. The patient was recommended for adjuvant chemotherapy and radiotherapy, but unfortunately passed away at the initiation of therapy. The prognosis for patients with brain metastases from thymomas remains poor. Optimal management strategies typically involve prompt surgical intervention whenever feasible, followed by adjuvant therapy aimed at improving mean survival rates.

PMID:39188622 | PMC:PMC11345126 | DOI:10.1016/j.radcr.2024.07.025

Journey through tumorverse: Creating models to decode PXA mysteries

Fetched: August 28th, 2024, 2:01am UTC by George Bukenya

Mol Ther Oncol. 2024 Aug 6;32(3):200853. doi: 10.1016/j.omton.2024.200853. eCollection 2024 Sep 19.

ABSTRACT

Pleomorphic xanthoastrocytoma (PXA) is a rare pediatric low-grade glioma (pLGG), of which 60%-80% exhibit the BRAF V600E mutation, that enhances the aggressiveness and progression to an eventual pediatric high-grade glioma (pHGG). Despite the aggressiveness of this mutational status, the mechanisms underlying the progression of BRAF V600E tumors remain poorly understood, primarily due to limited insights into their in vivo growth dynamics. In this issue, Rajappa and colleagues leverage a novel immunocompetent RCAS-BRAF V600E murine glioma model to profile the immunological dynamics taking place in BRAF V600E pLGG.

PMID:39188362 | PMC:PMC11347045 | DOI:10.1016/j.omton.2024.200853

A comprehensive approach to lateral ventricular tumor resection: techniques, technologies, and outcomes

Fetched: August 28th, 2024, 2:01am UTC by Muhammad Ahmed

Neurosurg Rev. 2024 Aug 27;47(1):489. doi: 10.1007/s10143-024-02745-x.

ABSTRACT

This study reviews lateral ventricular tumors (LVTs), which are rare brain lesions accounting for 0.64-3.5% of brain tumors, and the unique challenges they present due to their location and growth patterns. Once deemed inoperable, advancements in microneurosurgery, imaging, and tumor pathobiology have significantly improved treatment outcomes. This letter summarizes recent studies and key findings in the management of LVTs. Research by S.A. Maryashev et al. identified risk factors for early hemorrhagic complications following the surgical resection of lateral ventricular neoplasms, highlighting the significance of patient characteristics, tumor location, and surgical approach. The study found that factors such as gender, hydrocephalus, tumor blood flow, and Evans index correlate with a higher risk of hemorrhage, with the transcallosal approach having a greater risk compared to the transcortical approach. The utilization of navigation technologies, including fMRI, neuronavigation, and intraoperative brain mapping, has been shown to reduce surgical complications and enhance patient outcomes in the treatment of lateral ventricular meningiomas. Moreover, endoscopic and endoport-assisted endoscopic techniques have proven to be valuable in intraventricular tumor surgery, enabling minimally invasive procedures with better visualization and fewer complications. The integration of advanced surgical techniques, neuroimaging, and neurophysiological monitoring emphasizes the necessity of a multidisciplinary approach to optimize patient outcomes. To improve the study's validity and applicability, further research with larger sample sizes and advanced statistical analyses is needed. This letter advocates for the continued exploration of innovative surgical techniques and technologies to enhance the management of lateral ventricular tumors.

PMID:39187658 | DOI:10.1007/s10143-024-02745-x

Intraventricular Glioblastomas: A Systematic Review of Multimodal Treatment Strategies

Fetched: August 27th, 2024, 2:02am UTC by Gianluca Scalia

Ann Ital Chir. 2024;95(4):416-434. doi: 10.62713/aic.3529.

ABSTRACT

AIM: Intraventricular glioblastomas (IVGBMs) are rare tumors within the central nervous system characterized by unique challenges in diagnosis and management due to their location within the ventricular system. Despite their rarity, these tumors necessitate comprehensive study to refine diagnostic approaches and optimize therapeutic strategies.

METHODS: A systematic review was conducted using PubMed, Scopus, Web of Science, and Google Scholar databases to identify relevant literature published up to January 2024. Inclusion criteria encompassed studies in English focusing on clinical characteristics, radiological features, pathology, and treatment of IVGBM. Data synthesis and analysis followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.

RESULTS: Twenty-four articles met the inclusion criteria, comprising 47 patients with IVGBM. The median age was 47 years, with a male predominance (32 males, 15 females). Common symptoms included increased intracranial pressure and seizures. Tumors predominantly affected the lateral ventricles (body and trigone). Surgical resection (subtotal or gross total) was the primary treatment approach, with adjuvant therapies (radiotherapy, chemotherapy) administered postoperatively.

CONCLUSIONS: IVGBM present distinct diagnostic and therapeutic challenges due to their ventricular location. Current treatments primarily involve surgical resection followed by adjuvant therapies, though outcomes remain guarded. Further research is needed to enhance understanding and management of this rare glioblastoma subset.

PMID:39186332 | DOI:10.62713/aic.3529

Solitary fibrous tumor of the brain: A report of 3 cases

Fetched: August 27th, 2024, 2:02am UTC by Prerna Chadha

Oncol Lett. 2024 Aug 9;28(4):488. doi: 10.3892/ol.2024.14621. eCollection 2024 Oct.

ABSTRACT

Solitary fibrous tumor of the central nervous system (CNS) accounts for <1% of all primary CNS tumors. These tumors are typically dura-based and are graded using a three-tiered system based on cellularity, mitotic activity and necrosis. Extracranial metastasis of this disease is rare. The present study reports 3 cases of this rare tumor, retrieved from the hospital archives over a period of 5 years. The hematoxylin and eosin-stained and immunohistochemistry (IHC) slides were reviewed by two pathologists and clinical details were obtained from the hospital records. All 3 cases had tumors located in the cranial cavity. These cases had an outside diagnosis of meningioma, which on re-evaluation at our center (Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, India) were found to be solitary fibrous tumor. Of the 3 cases, 1 developed local recurrence and distant metastasis. All cases showed histomorphological features of a spindle cell tumor with positivity for STAT6 by IHC. The genomic NGFI-A-binding protein 2-STAT6 fusion in solitary fibrous tumor leads toSTAT6 nuclear expression on IHC, which confirms the diagnosis and also differentiates it from its close mimics. This case series highlights that histomorphology and IHC are imperative for a correct and timely diagnosis of these tumors, which are commonly misdiagnosed clinically.

PMID:39185491 | PMC:PMC11342408 | DOI:10.3892/ol.2024.14621

Frequency of pathogenic germline variants in pediatric medulloblastoma survivors

Fetched: August 27th, 2024, 2:02am UTC by Donald Rees

Front Oncol. 2024 Aug 9;14:1441958. doi: 10.3389/fonc.2024.1441958. eCollection 2024.

ABSTRACT

BACKGROUND: Medulloblastoma is the most common malignant brain tumor in children. Most cases are sporadic, but well characterized germline alterations in APC, ELP1, GPR161, PTCH1, SUFU, and TP53 predispose to medulloblastoma. However, knowledge about pathogenic/likely pathogenic (P/LP) variants that predispose to medulloblastoma vary based on genes evaluated, patient demographics, and pathogenicity definitions.

METHODS: Germline exome sequencing was conducted on 160 childhood survivors of medulloblastoma. Analyses focused on rare variants in 239 known cancer susceptibility genes (CSGs). P/LP variants were identified using ClinVar and InterVar. Variants of unknown significance in known medulloblastoma predisposing genes (APC, ELP1, GPR161, PTCH1, SUFU, TP53) were further classified for loss of function variants. We compared the frequency of P/LP variants in cases to that in 1,259 cancer-free adult controls.

RESULTS: Twenty cases (12.5%) had a P/LP variant in an autosomal dominant CSG versus 5% in controls (p=1.0 x10^-3), and 10 (6.3%) of these were P/LP variants in a known medulloblastoma gene, significantly greater than 0.2% observed in controls (p=1.4x10^-8). The CSGs with the most P/LP variants in cases, and significantly higher than controls, were ELP1 (p=3.0x10^-4) and SUFU (p=1.4x10^-3).

CONCLUSION: Approximately one in eight pediatric medulloblastoma survivors had an autosomal dominant P/LP CSG variant. We confirm several known associated genes and identify novel genes that may be important in medulloblastoma.

PMID:39184053 | PMC:PMC11341988 | DOI:10.3389/fonc.2024.1441958

Clinical characteristics and long-term outcome of CASPR2 antibody-associated autoimmune encephalitis in children

Fetched: August 27th, 2024, 2:02am UTC by Donglei Liao

Ital J Pediatr. 2024 Aug 26;50(1):158. doi: 10.1186/s13052-024-01727-5.

ABSTRACT

BACKGROUND: Contactin-associated protein-2(CASPR2) antibody-associated autoimmune encephalitis(AE) is rare in children. This study aimed to report the clinical characteristics and long-term outcome of CASPR2 autoimmunity in children to expand the disease spectrum.

METHODS: Children who were hospitalized in our hospital with clinically suspected AE from May 2015 to April 2022 and underwent neuronal surface antibodies detections were retrospectively analyzed. Clinical data of patients with CASPR2 autoimmunity were collected.

RESULTS: Patients who were positive for NMDAR-IgG, CASPR2-IgG, LGI1-IgG and IgLON5-IgG occupied 95.2%(119/125),3.2%(4/125),0.8%(1/125) and 0.8%(1/125), respectively.The median onset age of the 4 patients with CASPR2-IgG was 5.6 years. The most common symptoms were psychiatric symptoms/abnormal behavior(3/4) and sleep dysfunction(3/4). One patient developed a phenotype of Rasmussen encephalitis(RE). Tumor was absent in our patients. Two patients showed abnormal findings on initial brain magnetic resonance imaging(MRI) scans. All the patients showed favorable response to immunotherapy except the patient with RE experienced recurrent symptoms who finally achieved remission after surgery. All the patients had a favorable long-term outcome at the last follow-up(33-58months).

CONCLUSIONS: CASPR2 autoimmunity may be the second most common anti-neuronal surface antibodies associated neurological disease in children. Psychiatric symptoms/abnormal behavior and sleep disorder were common in children with CASPR2-associated AE. Tumor was rare in those patients. Most pediatric patients had a favorable long-term outcome.

PMID:39183357 | PMC:PMC11346287 | DOI:10.1186/s13052-024-01727-5

Grading and staging for pituitary neuroendocrine tumors

Fetched: August 27th, 2024, 2:02am UTC by Chiara Villa

Brain Pathol. 2024 Aug 25:e13299. doi: 10.1111/bpa.13299. Online ahead of print.

ABSTRACT

Pituitary adenoma/pituitary neuroendocrine tumors (PitNETs) are the second most common primary intracranial tumor and the most frequent neuroendocrine tumors/neoplasms of the human body. Thus, they are one of the most frequent diagnoses in neuropathologist's practise. 2022 5th edition WHO Classification of Endocrine and Neuroendocrine Tumors does not support a grading and/or staging system for PitNETs and argues that histological typing and subtyping are more robust than proliferation rate and invasiveness to stratify tumors. Numerous studies suggest the existence of clinically relevant molecular subgroups encouraging an integrated histo-molecular approach to the diagnosis of PitNETs to deepen the understanding of their biology and overcome the unresolved problem of grading system. The present review illustrates the main issues involved in establishing a grading and a staging system, as well as alternative systems validated by independent series to date. The state of art of the current histological and molecular markers is detailed, demonstrating that a standardized and reproducible clinico-pathological approach, combined with the integration of molecular data may help build a workflow to refine the definition of PitNETs with 'malignant potential' and most importantly, avoid delay in patient treatment. Next molecular studied are needed to validate an integrated histo-molecular grading for PitNETs.

PMID:39182993 | DOI:10.1111/bpa.13299

Retinol dehydrogenase 10 promotes epithelial-mesenchymal transition in spinal cord gliomas via PI3K/AKT pathway

Fetched: August 25th, 2024, 2:01am UTC by Zijun Zhao

Int J Immunopathol Pharmacol. 2024 Jan-Dec;38:3946320241276336. doi: 10.1177/03946320241276336.

ABSTRACT

Background: Spinal cord glioma (SCG), a rare subset of central nervous system (CNS) glioma, represents a complex challenge in neuro-oncology. There has been research showing that Retinol Dehydrogenase 10 (RDH10) may be a tumor promoting factor in brain glioma, but the biological effects of RDH10 remain undefined in SCG. Methods: We performed gene set enrichment analysis (GSEA) and unsupervised clustering analysis to investigate the roles of EMT (epithelial-mesenchymal transition) in glioma. DEG (differently expressed gene) screening and correlation analysis were conducted to filter the candidate genes which were closely associated with EMT process in SCG. Enrichment analysis and GSVA (Gene Set Variation Analysis) were conducted to investigate the potential mechanism of RDH10 for SCG. Trans-well and healing assay were performed to explore the role of RDH10 in the invasion of SCG. Western blotting was performed to evaluate the levels of markers in PI3K-AKT and EMT pathway. In vivo tests were conducted to verify the role of RDH10 in EMT process. Results: Bioinformatic analysis demonstrated the EMT pathway was associated with dismal prognosis of glioma. Further analysis demonstrated that RDH10 showed the strongest correlation with the EMT process. Retinol Dehydrogenase 10 expression was significantly increased in SCG tissues, correlating with advanced tumor grade and unfavorable prognosis. Functional analysis indicated that decreasing RDH10 levels impeded the invasive and migratory abilities of SCG cells, whereas increasing RDH10 levels augmented them. Enrichment analysis and western blot revealed that RDH10 regulated EMT process of SCG by PI3K-AKT pathway. We observed that the enhanced invasion ability and increased EMT-related protein induced by RDH10 overexpression can be suppressed by PI3K-AKT pathway inhibitor (LY294002). Conclusion: Our research found that RDH10 was an effective biomarker associated with tumor grade and prognosis of SCG. RDH10 could regulate EMT process of SCG through PI3K-AKT pathway.

PMID:39180753 | PMC:PMC11344904 | DOI:10.1177/03946320241276336

Assessment of Tumor Cell Invasion and Radiotherapy Response in Experimental Glioma by Magnetic Resonance Elastography

Fetched: August 24th, 2024, 2:01am UTC by Hannah Fels-Palesandro

J Magn Reson Imaging. 2024 Aug 23. doi: 10.1002/jmri.29567. Online ahead of print.

ABSTRACT

BACKGROUND: Gliomas are highly invasive brain neoplasms. MRI is the most important tool to diagnose and monitor glioma but has shortcomings. In particular, the assessment of tumor cell invasion is insufficient. This is a clinical dilemma, as recurrence can arise from MRI-occult glioma cell invasion.

HYPOTHESIS: Tumor cell invasion, tumor growth and radiotherapy alter the brain parenchymal microstructure and thus are assessable by diffusion tensor imaging (DTI) and MR elastography (MRE).

STUDY TYPE: Experimental, animal model.

ANIMAL MODEL: Twenty-three male NMRI nude mice orthotopically implanted with S24 patient-derived glioma cells (experimental mice) and 9 NMRI nude mice stereotactically injected with 1 Î¼L PBS (sham-injected mice).

FIELD STRENGTH/SEQUENCE: 2D and 3D T2-weighted rapid acquisition with refocused echoes (RARE), 2D echo planar imaging (EPI) DTI, 2D multi-slice multi-echo (MSME) T2 relaxometry, 3D MSME MRE at 900 Hz acquired at 9.4 T (675 mT/m gradient strength).

ASSESSMENT: Longitudinal 4-weekly imaging was performed for up to 4 months. Tumor volume was assessed in experimental mice (n = 10 treatment-control, n = 13 radiotherapy). The radiotherapy subgroup and 5 sham-injected mice underwent irradiation (3 Ã— 6 Gy) 9 weeks post-implantation/sham injection. MRI-/MRE-parameters were assessed in the corpus callosum and tumor core/injection tract. Imaging data were correlated to light sheet microscopy (LSM) and histology.

STATISTICAL TESTS: Paired and unpaired t-tests, a P-value â‰¤0.05 was considered significant.

RESULTS: From week 4 to 8, a significant callosal stiffening (4.44 Â± 0.22 vs. 5.31 Â± 0.29 kPa) was detected correlating with LSM-proven tumor cell invasion. This was occult to all other imaging metrics. Histologically proven tissue destruction in the tumor core led to an increased T2 relaxation time (41.65 Â± 0.34 vs. 44.83 Â± 0.66 msec) and ADC (610.2 Â± 12.27 vs. 711.2 Â± 13.42 Ã— 10^-6 mm²/s) and a softening (5.51 Â± 0.30 vs. 4.24 Â± 0.29 kPa) from week 8 to 12. Radiotherapy slowed tumor progression.

DATA CONCLUSION: MRE is promising for the assessment of key glioma characteristics.

EVIDENCE LEVEL: NA TECHNICAL EFFICACY: Stage 2.

PMID:39177509 | DOI:10.1002/jmri.29567

Rare Cerebral Location of a Left Lateral Ventricle Solitary Fibrous Tumor (SFT): A Case Report With Literature Review

Fetched: August 24th, 2024, 2:01am UTC by Ayoub Abdellah

Cureus. 2024 Jul 23;16(7):e65215. doi: 10.7759/cureus.65215. eCollection 2024 Jul.

ABSTRACT

Solitary fibrous tumors (SFTs) are rare mesenchymal neoplasms that can occur intraventricularly, presenting diagnostic and management challenges. We describe a case of a 21-year-old male with no significant medical history who presented with intermittent headaches and vomiting, progressing to continuous symptoms. Neurological examination was unremarkable. Brain MRI revealed an isointense lesion in the occipital horn of the left lateral ventricle, diagnosed as an SFT. Surgical excision via a transcortical approach was successful, followed by postoperative radiotherapy. This case highlights the complexities in diagnosing and treating intraventricular SFTs, emphasizing the need for comprehensive evaluation and multimodal management strategies.

PMID:39176306 | PMC:PMC11341117 | DOI:10.7759/cureus.65215

Â«MasksÂ» of CNS demyelinating diseases. Primary lymphoma

Fetched: August 24th, 2024, 2:01am UTC by A O Kozlova

Zh Nevrol Psikhiatr Im S S Korsakova. 2024;124(7. Vyp. 2):101-108. doi: 10.17116/jnevro2024124072101.

ABSTRACT

Primary central nervous system lymphoma (PCNSL) is a rare neoplasm that can affect the brain, eyes, and, rarely, the spinal cord. Clinical presentation and MRI findings can mimic a variety of diseases, including high-grade gliomas, infectious and granulomatous diseases, and demyelinating diseases. We describe three cases where the diagnosis of PCNSL was difficult due to an ambiguous clinical, radiological and laboratory results. The role of stereotactic biopsy remains leading in differential diagnosis; however, the invasiveness and frequent limitations of this method determine the search for additional biological markers of the disease. New evidence suggests a potential role for cerebrospinal fluid (CSF) cytokine profiles and proteomic analysis in differential diagnosis, disease progression, and treatment response.

PMID:39175248 | DOI:10.17116/jnevro2024124072101

Atypical Cutaneous Presentation and Diagnostic Challenges in Advanced Metastatic Testicular Cancer

Fetched: August 23rd, 2024, 2:01am UTC by Devaun M Reid

Cureus. 2024 Jul 22;16(7):e65072. doi: 10.7759/cureus.65072. eCollection 2024 Jul.

ABSTRACT

A 29-year-old male presented with acute left-sided weakness in both the upper extremity (UE) and lower extremity (LE), an atypical symptom for testicular cancer but not uncommon for brain metastasis. Testicular cancer usually manifests as a testicular mass or discomfort. His medical history included a previously resected testicular mass, with pathology results unknown due to the patient being lost to follow-up. Upon examination, he exhibited significant neurological deficits and multiple subcutaneous nodules. Imaging revealed multiple enhancing brain lesions and widespread metastases to the lungs and other regions. Laboratory tests showed elevated alpha-fetoprotein and lactate dehydrogenase levels, supporting a diagnosis of advanced non-seminomatous germ cell tumor. He received multidisciplinary treatment, including dexamethasone, levetiracetam, and chemotherapy. The patient responded well to the treatment, showing significant improvement in neurological function and stabilization of his condition. This case underscores the diagnostic and therapeutic challenges of metastatic testicular cancer, particularly with rare presentations such as cutaneous involvement, and highlights the importance of comprehensive diagnostic evaluations and multidisciplinary care.

PMID:39171067 | PMC:PMC11337077 | DOI:10.7759/cureus.65072

Disseminated ependymal dysembryoplastic neuroepithelial tumor: a case report and literature review

Fetched: August 23rd, 2024, 2:01am UTC by Yu V Kushel

Zh Vopr Neirokhir Im N N Burdenko. 2024;88(4):92-99. doi: 10.17116/neiro20248804192.

ABSTRACT

Dysembryoplastic neuroepithelial tumor (DNET) is a benign mixed neuronal-glial neoplasm (WHO grade 1). DNET is most often localized in temporal lobes and found in children and young people with epilepsy. There a few cases of DNET in ventricular system with dissemination along the ependyma in the world literature.

MATERIAL AND METHODS: We present a rare case of T1- and T2-negative ventricular system tumor. Only FIESTA imaging revealed dissemination with multiple focal lesions of the third ventricle, its bottom and lateral walls, anterior horns of lateral ventricles, cerebellar vermis, cervical and lumbar spinal cord.

RESULTS: The patient underwent transcortical endoscopic biopsy of the third ventricle tumor with simultaneous ventriculoperitoneal shunting. DNET was diagnosed, and radiotherapy was subsequently performed. Literature data on this issue were analyzed.

CONCLUSION: To date, disseminated forms of DNET are extremely rare. X-ray features and morphological results allow us to establish the correct diagnosis and determine further treatment strategy.

PMID:39169587 | DOI:10.17116/neiro20248804192

Cerebellar abscess secondary to metastatic lung adenocarcinoma: a case report

Fetched: August 23rd, 2024, 2:01am UTC by Hamza Ahmed

J Med Case Rep. 2024 Aug 22;18(1):389. doi: 10.1186/s13256-024-04722-w.

ABSTRACT

BACKGROUND: Cerebellar abscesses are rare, life-threatening infections often originating from bacterial sources, while metastatic brain lesions from lung adenocarcinoma are relatively common. However, the coexistence of a cerebellar abscess secondary to metastatic lung adenocarcinoma is exceedingly rare and presents unique diagnostic and management challenges.

CASE PRESENTATION: We report a case of a 35 year-old Pakistani female patient with persistent headaches, nausea, and vertigo, who was found to have a large cerebellar mass with features suggestive of metastatic lung adenocarcinoma. Further investigation revealed a concomitant cerebellar abscess. Surgical excision and broad-spectrum antibiotics were initiated, resulting in a favorable outcome.

CONCLUSION: This case showcases the rarity and complexity of cerebellar abscesses due to metastatic lung adenocarcinoma. Timely intervention, including surgery and targeted therapy, is crucial for successful management. Further research is needed to enhance treatment strategies.

PMID:39169419 | PMC:PMC11340145 | DOI:10.1186/s13256-024-04722-w

Hemangioblastoma

Fetched: August 22nd, 2024, 2:01am UTC by Muhammad M. Khan

2024 Aug 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Janâ€“.

ABSTRACT

Hemangioblastomas are rare, benign, highly vascularized tumors classified as WHO grade 1, primarily affecting the central nervous system. They most commonly occur in the cerebellum, followed by the spinal cord and brainstem. These tumors can be sporadic or associated with von Hippel-Lindau (VHL) disease, an autosomal dominant genetic disorder that predisposes individuals to various tumors. Approximately 45% of people with VHL disease develop CNS hemangioblastomas, and an estimated 20% of those with CNS hemangioblastomas have concurrent VHL disease. Hemangioblastomas are uncommon, representing 1% to 2.5% of all brain tumors and 2% to 10% of spinal cord tumors, typically manifesting between the ages of 30 and 60, with a slight male predominance.

The clinical presentation of hemangioblastomas varies depending on their location and can significantly impact the quality of life. Cerebellar tumors often cause headaches, nausea, vomiting, and signs of increased intracranial pressure, while brainstem tumors can lead to motor and sensory deficits, ataxia, and potentially fatal hemorrhages. Spinal hemangioblastomas may result in localized pain, motor weakness, sensory disturbances, and bowel or bladder dysfunction.

Diagnosis is primarily made through magnetic resonance imaging, which typically reveals a cystic mass with an enhancing mural nodule. The primary treatment is surgical resection, with preoperative embolization sometimes necessary due to the tumor's vascularity. Stereotactic radiosurgery and novel agents targeting vascular endothelial growth factor pathways are emerging treatments for multiple or surgically inaccessible tumors. The prognosis after surgery is generally favorable, with low recurrence rates of less than 25%, although regular follow-up is crucial, especially in patients with VHL disease.

PMID:39163468 | Bookshelf:NBK606126

CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow

Fetched: August 22nd, 2024, 2:01am UTC by Angelina Haesoo Kim

Life Sci Alliance. 2024 Aug 21;7(10):e202402708. doi: 10.26508/lsa.202402708. Print 2024 Oct.

ABSTRACT

Intellectual and developmental disabilities result from abnormal nervous system development. Over a 1,000 genes have been associated with intellectual and developmental disabilities, driving continued efforts toward dissecting variant functionality to enhance our understanding of the disease mechanism. This report identified two novel variants in CC2D1A in a cohort of four patients from two unrelated families. We used multiple model systems for functional analysis, including Xenopus, Drosophila, and patient-derived fibroblasts. Our experiments revealed that cc2d1a is expressed explicitly in a spectrum of ciliated tissues, including the left-right organizer, epidermis, pronephric duct, nephrostomes, and ventricular zone of the brain. In line with this expression pattern, loss of cc2d1a led to cardiac heterotaxy, cystic kidneys, and abnormal CSF circulation via defective ciliogenesis. Interestingly, when we analyzed brain development, mutant tadpoles showed abnormal CSF circulation only in the midbrain region, suggesting abnormal local CSF flow. Furthermore, our analysis of the patient-derived fibroblasts confirmed defective ciliogenesis, further supporting our observations. In summary, we revealed novel insight into the role of CC2D1A by establishing its new critical role in ciliogenesis and CSF circulation.

PMID:39168639 | PMC:PMC11339347 | DOI:10.26508/lsa.202402708

Permalink for 'Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework'

Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework

Fetched: August 22nd, 2024, 2:01am UTC by Dan He

EBioMedicine. 2024 Aug 20;107:105286. doi: 10.1016/j.ebiom.2024.105286. Online ahead of print.

ABSTRACT

BACKGROUND: Genome-wide association studies (GWAS) have revealed many brain disorder-associated SNPs residing in the noncoding genome, rendering it a challenge to decipher the underlying pathogenic mechanisms.

METHODS: Here, we present an unsupervised Bayesian framework to identify disease-associated genes by integrating risk SNPs with long-range chromatin interactions (iGOAT), including SNP-SNP interactions extracted from âˆ¼500,000 patients and controls from the UK Biobank, and enhancer-promoter interactions derived from multiple brain cell types at different developmental stages.

FINDINGS: The application of iGOAT to three psychiatric disorders and three neurodegenerative/neurological diseases predicted sets of high-risk (HRGs) and low-risk (LRGs) genes for each disorder. The HRGs were enriched in drug targets, and exhibited higher expression during prenatal brain developmental stages than postnatal stages, indicating their potential to affect brain development at an early stage. The HRGs associated with Alzheimer's disease were found to share genetic architecture with schizophrenia, bipolar disorder and major depressive disorder according to gene co-expression module analysis and rare variants analysis. Comparisons of this method to the eQTL-based method, the TWAS-based method, and the gene-level GWAS method indicated that the genes identified by our method are more enriched in known brain disorder-related genes, and exhibited higher precision. Finally, the method predicted 205 risk genes not previously reported to be associated with any brain disorder, of which one top-risk gene, MLH1, was experimentally validated as being schizophrenia-associated.

INTERPRETATION: iGOAT can successfully leverage epigenomic data, phenotype-genotype associations, and protein-protein interactions to advance our understanding of brain disorders, thereby facilitating the development of new therapeutic approaches.

FUNDING: The work was funded by the National Key Research and Development Program of China (2024YFF1204902), the Natural Science Foundation of China (82371482), Guangzhou Science and Technology Research Plan (2023A03J0659) and Natural Science Foundation of Guangdong (2024A1515011363).

PMID:39168091 | DOI:10.1016/j.ebiom.2024.105286

The role of postoperative blood pressure management in early postoperative hemorrhage in awake craniotomy glioma patients

Fetched: August 22nd, 2024, 2:01am UTC by Matthias Demetz

Neurosurg Rev. 2024 Aug 22;47(1):452. doi: 10.1007/s10143-024-02661-0.

ABSTRACT

Postoperative hemorrhage can severely affect the patients' neurological outcome after awake craniotomy. Higher postoperative blood pressure can increase the risk of postoperative hemorrhage. The aim of this study was to investigate the role of postoperative blood pressure and other common radiological and epidemiological features with the incidence of postoperative hemorrhage. In this retrospective analysis, we included patients who underwent awake surgery at our institution. We assessed the blood pressure both intra- and postoperatively as well as the heart rate for the first 12 h. We compared a cohort with postoperative hemorrhage, who required further treatment (surgical revision or intravenous antihypertensive therapy), with a cohort with no postoperative hemorrhage. We included 48 patients with a median age of 39 years. 9 patients (19%) required further treatment due to postoperative hemorrhage, which was surgery in 2 cases and intensive blood pressure measurements in 7 cases. However, with early treatment, no significant difference in Performance scores at follow-up could be found. Patients with postoperative hemorrhage showed significantly higher postoperative systolic blood pressure during the hours 3-12 (p < 0.05) as well as intraoperatively throughout the procedure (p < 0.05). In ROC and Youden Test, a strong impact of systolic blood pressure over 140mmHg during the early postoperative course could be shown. Postoperative hemorrhage is a rare but possible complication in awake surgery glioma patients. To avoid postoperative hemorrhage, treating physicians should aim strictly on systolic blood pressure of under 140mmHg for the postoperative course.

PMID:39168945 | PMC:PMC11339099 | DOI:10.1007/s10143-024-02661-0

A woman in her thirties with confusion

Fetched: August 22nd, 2024, 2:01am UTC by Margrethe Aase Schaufel

Tidsskr Nor Laegeforen. 2024 Jul 18;144(9). doi: 10.4045/tidsskr.23.0344. Print 2024 Aug 20.

ABSTRACT

BACKGROUND: Coercion is rare in cancer treatment. We present a case where a young woman received gamma knife radiosurgery and immunochemotherapy under compulsory institutional care.

CASE PRESENTATION: A previously healthy patient in her thirties was admitted to hospital due to confusion, apathy, weight loss and sleep disturbance. She had difficulties expressing herself and spoke with considerable latency. A brain MRI revealed a tumour of 23 mm in the left-side centrum semiovale and perifocal oedema, while a CT scan showed a 5.6 cm tumour in the right upper lobe and enlarged mediastinal lymph nodes. She was diagnosed with non-small cell lung cancer, no actionable mutations, PD-L1 <75 %. When she did not wish to return to the hospital to undergo gamma knife radiosurgery, she was readmitted under a formal decision to use coercion, and remained under institutional care for over six months. Today she is fully recovered and has no cancer progression almost five years after diagnosis.

INTERPRETATION: This case report illustrates the challenges of brain metastases and use of coercion during cancer treatment, both for the patient and healthcare personnel. There is a need for thorough interdisciplinary discussions and to establish as early as possible a shared understanding of the intention and scope of the forced treatment.

PMID:39167002 | DOI:10.4045/tidsskr.23.0344

Intra-axial Cortical-Based Tumour Presented as Homonymous Hemianopia in a Young Patient: A Diagnostic Dilemma

Fetched: August 21st, 2024, 2:01am UTC by Luqmanhaqim Aminuddin

Cureus. 2024 Jul 19;16(7):e64963. doi: 10.7759/cureus.64963. eCollection 2024 Jul.

ABSTRACT

PMID:39161507 | PMC:PMC11331184 | DOI:10.7759/cureus.64963

Atypical Choroid Plexus Tumor of the Cauda Equina With Metastases to the Spinal Cord and Brain

Fetched: August 21st, 2024, 2:01am UTC by Tanvir Rizvi

Cureus. 2024 Jul 19;16(7):e64947. doi: 10.7759/cureus.64947. eCollection 2024 Jul.

ABSTRACT

We report a case of a 57-year-old man with a tumor arising from the cauda equina with spinal cord and intracranial metastases in the basal cisterns and along the cranial nerves. He presented with severe lower back pain and mild gait imbalance. His imaging revealed a large mass in the lumbosacral region with involvement of the cauda equina, intradural extramedullary enhancing metastases in the thoracic spinal canal, and intracranial metastases in the suprasellar cistern and along both trigeminal and facial/vestibulocochlear nerve complexes. Pathological examination of the resected thoracic spinal cord mass showed an atypical papillary proliferation with moderate nuclear pleomorphism and rare mitotic figures. While the morphologic and immunophenotypic features were consistent with the diagnosis of a choroid plexus tumor, the atypical location for this entity required the exclusion of other epithelioid tumors with papillary architecture. Additional immunohistochemical markers were used to exclude a metastatic adenocarcinoma, a papillary variant of a meningioma, and a papillary variant of an ependymoma. Ultimately, methylation-based tumor profiling determined that the methylation class was a match for "plexus tumor" resulting in the integrated diagnosis of the tumor with features of choroid plexus papilloma. This is a unique presentation for both the location and the metastatic spread. The methylation profile was instrumental in establishing this diagnosis.

PMID:39161498 | PMC:PMC11330702 | DOI:10.7759/cureus.64947

Extraconal orbital craniopharyngioma

Fetched: August 20th, 2024, 2:01am UTC by Soundarya Samskruthi Koyya

BMJ Case Rep. 2024 Aug 19;17(8):e258652. doi: 10.1136/bcr-2023-258652.

ABSTRACT

A female, in her 60s, presented with pain and swelling of the right eye for 3 years. The radiological work-up revealed an extraconal solid-cystic orbital tumour suggestive of an epidermoid cyst. The patient underwent supraorbital craniotomy with a gross total excision of the tumour. An intraoperative diagnosis was sought, which on both squash smear and frozen section showed features of craniopharyngioma (CP), later confirmed on paraffin sections and immunohistochemistry. The orbit is a very rare site for ectopic CP, with only two cases reported in the literature. Many theories have been proposed to explain the occurrence of CP at ectopic sites. This report aims to provide insight into the different hypotheses of the pathogenesis of ectopic CP through a review of the literature.

PMID:39159984 | DOI:10.1136/bcr-2023-258652

BRAF and MEK inhibitor targeted therapy in papillary craniopharyngiomas: a cohort study

Fetched: August 20th, 2024, 2:01am UTC by Dario De Alcubierre

Eur J Endocrinol. 2024 Aug 5;191(2):251-261. doi: 10.1093/ejendo/lvae091.

ABSTRACT

OBJECTIVE: Targeted therapy (TT) with BRAF/MEK inhibitors has emerged as a potential treatment in papillary craniopharyngiomas (PCPs). However, standardized data on large cohorts are lacking. Our study aimed to assess real-life efficacy and safety of BRAF/MEK inhibition in patients with PCPs.

DESIGN: Retrospective French multicenter study involving BRAF V600E-mutated PCP patients, treated with BRAF/MEK inhibitor combination dabrafenib and trametinib, from April 2019 to July 2023.

METHODS: Objective response and clinical and safety outcomes were assessed after 3 months and at the last available follow-up during TT.

RESULTS: Sixteen patients (8 females, mean age 50.5 Â± 15.75 years), receiving either neoadjuvant therapy (NEO) for non-resectable tumors (n = 6), post-surgical adjuvant therapy (ADJ; n = 8), or palliative therapy (PAL) following failure of multimodal treatment (n = 2), were included.At the last follow-up (mean 7.6 Â± 5.3 months), 12 patients showed subtotal response, 3 exhibited partial response, and 1 maintained stable disease. Mean volume reduction was 88.9 Â± 4.4%, 73.3 Â± 23.4%, and 91.8 Â± 4.3% in the NEO, ADJ, and PAL groups, respectively.Targeted therapy resolved headaches in 5/5 patients and visual impairment in 6/9; 2/3 patients had improved neurological symptoms, 1/4 presented weight loss, and 2/14 recovered endocrine function.Targeted therapy was well-tolerated in 62.5% of cases; adverse events led to treatment discontinuation in 5 patients and definitive discontinuation in 3 cases.

CONCLUSIONS: In this study, 94% of patients showed partial response or better to TT. Adverse events were acceptable. Further research is needed to establish standardized protocols; however, these results advocate for a NEO approach in invasive PCPs.

PMID:39158090 | DOI:10.1093/ejendo/lvae091

Permalink for 'Role of poly-ADP-ribose polymerase inhibitors after brain progression in platinum-sensitive ovarian cancer: a case report and review of the literature'

Role of poly-ADP-ribose polymerase inhibitors after brain progression in platinum-sensitive ovarian cancer: a case report and review of the literature

Fetched: August 20th, 2024, 2:01am UTC by Gonzalo Lendinez-Sanchez

Front Oncol. 2024 Aug 2;14:1423992. doi: 10.3389/fonc.2024.1423992. eCollection 2024.

ABSTRACT

INTRODUCTION: The incidence of brain metastases in ovarian cancer is quite rare, being approximately 1%-2%. According to retrospective studies, patients with BRCA 1/2 mutations present a higher risk. The trimodal approach based on surgery, radiotherapy, and chemotherapy presents better outcomes, but the prognosis remains poor with overall survival since the brain progression is around 1 year. Poly-ADP-ribose polymerase inhibitors (PARPi) have provided a new alternative for the management of advanced ovarian cancer. The SOLO2, NOVA, and ARIEL3 clinical trials do not refer data on patients with brain metastases, and the published evidence for PARPi in this setting comes only from case reports and retrospective studies.

CASE REPORT: We present the case of a 54-year-old woman with stage IV ovarian high-grade serous papillary carcinoma who, after 37 months of treatment with olaparib, presented a single brain lesion. After radical treatment with surgery and adjuvant whole-brain radiotherapy, she resumed olaparib with no evidence of disease during 15 months. After a second single brain relapse treated with stereotactic radiosurgery, the patient continued olaparib beyond the brain progression with no evidence of extracranial disease. Despite that there were no changes in size or number of brain lesions, the neurological situation progressively worsened and the patient died 8 months after the second progression.

DISCUSSION: The higher incidence of brain metastases of ovarian cancer points out a possible tropism for the CNS in BRCA-mutated patients. In preclinical studies, PARPi has shown to cross the blood-brain barrier, with possible antitumor activity in the central nervous system (CNS) while maintaining control of extracranial disease. The best survival data are obtained with a trimodal approach, and adding a PARPi could improve the survival outcomes in the context of platinum-sensitivity disease. Targeted therapies combined with local treatments are also used in other malignancies, suggesting potential effectiveness due to tumor heterogeneity. PARPi before brain metastasis may delay its diagnosis, and using iPARP after brain metastases could improve the outcome of this population.

CONCLUSION: The role that PARPi may have in the treatment of brain metastases of ovarian cancer requires more studies. In the context of radical treatment of brain metastasis (surgery and/or RT), with no evidence of extracranial disease, maintaining treatment with PARPi beyond the brain progression should be considered.

PMID:39156698 | PMC:PMC11327502 | DOI:10.3389/fonc.2024.1423992

Reversion of pathogenic BRCA1 L1780P mutation confers resistance to PARP and ATM inhibitor in breast cancer

Fetched: August 20th, 2024, 2:01am UTC by Se-Young Jo

iScience. 2024 Jul 6;27(8):110469. doi: 10.1016/j.isci.2024.110469. eCollection 2024 Aug 16.

ABSTRACT

This study investigates the molecular characteristics and therapeutic implications of the BRCA1 L1780P mutation, a rare variant prevalent among Korean hereditary breast cancer patients. Using patient-derived xenograft (PDX) models and cell lines (PDX-derived cell line) from carriers, sequencing analyses revealed loss of heterozygosity (LOH) at the BRCA1 locus, with one patient losing the wild-type allele and the other mutated allele. This reversion mutation may cf. resistance to homologous recombination deficiency (HRD)-targeting drugs such as PARP inhibitors (PARPi) and ATM inhibitors (ATMi). Although HRDetect and CHORD analyses confirmed a strong association between the L1780P mutation and HRD, effective initially, drug resistance developed in cases with reversion mutations. These findings underscore the complexity of using HRD prediction in personalized treatment strategies for breast cancer patients with BRCA1/2 mutations, as resistance may arise in reversion cases despite high HRD scores.

PMID:39156639 | PMC:PMC11326956 | DOI:10.1016/j.isci.2024.110469

Quantitative Pupillometry in Brain Injury Children : Variation After Osmotherapy

Posted: October 15th, 2024, 11:00pm UTC

Conditions: Children Brain Injury
Interventions: Device: pupillometer; Device: pupillometer
Sponsors: University Hospital, Grenoble
Not yet recruiting

TIL Therapy Combined With Pembrolizumab for Advanced Brain Cancer Including Gliomas and Meningiomas

Posted: October 14th, 2024, 11:00pm UTC

Conditions: Brain Tumor; Brain Metastases; Brain Cancer; Glioma; Gliomas, Malignant; Glioblastoma; Meningioma
Interventions: Biological: Tumor Infiltrating Lymphocytes (TIL); Drug: Cyclophosphamide; Drug: Fludarabine; Drug: Interleukin-2; Drug: Pembrolizumab
Sponsors: Essen Biotech
Not yet recruiting

Feasibility of Accelerated, Personalized rTMS as an Adjuvant for Impulse Control Disorders: a Pilot Study

Posted: October 14th, 2024, 11:00pm UTC

Conditions: Impulse Control Disorder
Interventions: Device: Repetitive Transcranial Magnetic Stimulation (rTMS)
Sponsors: M.D. Anderson Cancer Center
Not yet recruiting

Effect of Anodal Transcranial Direct Current Stimulation on Postdural Puncture Headache

Posted: October 14th, 2024, 11:00pm UTC

Conditions: Postdural Puncture Headache; Lumbar Puncture
Interventions: Device: active in therapeutic tDCS (Th-tDCS): anodal transcranial Direct Current Stimulation (a-tDCS); Device: sham in therapeutic tDCS (Th-tDCS): anodal transcranial Direct Current Stimulation (a-tDCS); Device: active in preventive tDCS (Pr-tDCS): anodal transcranial Direct Current Stimulation (a-tDCS); Device: sham in preventive tDCS (Pr-tDCS): anodal transcranial Direct Current Stimulation (a-tDCS)
Sponsors: Neuromed IRCCS
Completed

Study in Patients With Breast Cancer Leptomeningeal Metastasis

Posted: October 11th, 2024, 11:00pm UTC

Conditions: Leptomeningeal Metastasis of Breast Cancer
Sponsors: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins; Avon Foundation
Not yet recruiting

Permalink for 'Prevalence of Major Vessels Underlying the Potential Incision Site for Emergency Front of Neck Airway Access in Adult Surgical Patients With Impalpable Neck Anatomy'

Prevalence of Major Vessels Underlying the Potential Incision Site for Emergency Front of Neck Airway Access in Adult Surgical Patients With Impalpable Neck Anatomy

Posted: October 11th, 2024, 11:00pm UTC

Conditions: Airway Complication of Anesthesia
Interventions: Device: Ultrasound
Sponsors: Mount Sinai Hospital, Canada
Not yet recruiting

The Relationship Between Body Mass Index and Patient Outcomes in Low Flow Anaesthesia

Posted: October 10th, 2024, 11:00pm UTC

Conditions: Major Gynecological Cancer Surgery; Low Flow Anesthesia
Interventions: Procedure: the effect of body mass index during low-flow anesthesia
Sponsors: Bakirkoy Dr. Sadi Konuk Research and Training Hospital
Not yet recruiting

Window of Opportunity Study of DSP-0390 in Gliomas

Posted: October 10th, 2024, 11:00pm UTC

Conditions: Glioma, Malignant; Grade II Glioma; IDH Mutation
Interventions: Drug: DSP-0390
Sponsors: Washington University School of Medicine; Sumitomo Pharmaceuticals America
Not yet recruiting

Personalized ViscoElastic Testing-guided Bleeding Management in Liver Surgery, Neurosurgery and Obstetrics

Posted: October 10th, 2024, 11:00pm UTC

Conditions: Thrombelastography; Liver Transplant; Postpartum Hemorrhage; Bleeding Disorder; Intracranial Hemorrhages
Interventions: Diagnostic Test: Viscoelastic testing
Sponsors: Medical University of Vienna; Synapse - Research Institute Maastricht
Recruiting

Flexibility, Alcohol Misuse, and Excitation

Posted: October 10th, 2024, 11:00pm UTC

Conditions: Behavioral Flexibility; Healthy Volunteers; High Risk Alcohol Use
Interventions: Device: 10 Hz transcranial alternating current stimulation (tACS); Device: sham transcranial alternating current stimulation (tACS)
Sponsors: University of North Carolina, Chapel Hill; National Institute on Alcohol Abuse and Alcoholism (NIAAA)
Recruiting

5G-EMERALD: Amivantamab in Malignant Brain Tumours

Posted: October 9th, 2024, 11:00pm UTC

Conditions: Malignant Brain Tumors
Interventions: Drug: Amivantamab
Sponsors: Institute of Cancer Research, United Kingdom; Royal Marsden NHS Foundation Trust; Cambridge University Hospitals NHS Foundation Trust; Janssen Pharmaceutica N.V., Belgium; Cancer Research UK; Minderoo Foundation; University of Cambridge
Not yet recruiting

Effects of Oral Administration of Antrodia Cinnamomea Products for Clinical Symptoms in Spinocerebellar Ataxia Patients

Posted: October 9th, 2024, 11:00pm UTC

Conditions: Spinocerebellar Ataxia
Interventions: Dietary Supplement: Antrodia cinnamomea Products; Dietary Supplement: Antrodia cinnamomea Products
Sponsors: ALPS Biotech CO. LTD
Recruiting

Use of Shear Wave Elastography for Intraoperative Brain and Glioma Stiffness Measurements

Posted: October 8th, 2024, 11:00pm UTC

Conditions: Glioma; Recurrent Glioma
Interventions: Other: Non-Interventional Study
Sponsors: Mayo Clinic
Not yet recruiting

5G-RUBY: Avutometinib and Defactinib in Malignant Brain Tumours

Posted: October 7th, 2024, 11:00pm UTC

Conditions: Maligrant Primary Gliomas; Glioblastoma Multiforme (GBM); Glioblastoma Multiform (Grade IV Astrocytoma); Diffuse Hemispheric Glioma, H3 G34-Mutant
Interventions: Drug: Avutometinib; Drug: Defactinib; Drug: Temozolomide
Sponsors: Institute of Cancer Research, United Kingdom; Minderoo Foundation; Verastem, Inc.; Royal Marsden NHS Foundation Trust; Cambridge University Hospitals NHS Foundation Trust; Cancer Research UK; University of Cambridge
Recruiting

Permalink for 'Clinical Trial to Evaluate the Effects of Letermovir Prophylaxis on T-cell Immune Activation in Participants With Treated HIV-1 Infection'

Clinical Trial to Evaluate the Effects of Letermovir Prophylaxis on T-cell Immune Activation in Participants With Treated HIV-1 Infection

Posted: October 4th, 2024, 11:00pm UTC

Conditions: HIV
Interventions: Drug: Letermovir
Sponsors: University College, London; Royal Free Hospital NHS Foundation Trust
Not yet recruiting

Key Longitudinal Associations With Risk and Glioblastoma Outcomes

Posted: October 3rd, 2024, 11:00pm UTC

Conditions: Glioblastoma
Sponsors: Duke University; Glioblastoma Research Organization; StacheStrong
Not yet recruiting

Atovaquone Combined with Radiation in Children with Malignant Brain Tumors

Posted: October 3rd, 2024, 11:00pm UTC

Conditions: High-grade Glioma; Medulloblastoma; Diffuse Intrinsic Pontine Glioma; Diffuse Midline Glioma, H3 K27M-Mutant
Interventions: Drug: Atovaquone; Radiation: Radiation Therapy
Sponsors: Emory University; Morningside Foundation/Peach Bowl LegACy Fund
Recruiting

Permalink for 'High-dose Chemotherapy with Thiotepa, Busulfan, and Cyclophosphamide Followed by Autologous Stem Cell Transplantation in Central Nervous System Lymphoma'

High-dose Chemotherapy with Thiotepa, Busulfan, and Cyclophosphamide Followed by Autologous Stem Cell Transplantation in Central Nervous System Lymphoma

Posted: October 3rd, 2024, 11:00pm UTC

Conditions: Central Nervous System Lymphoma
Interventions: Drug: Thiotepa in conditioning before transplantation
Sponsors: Seoul National University Hospital
Terminated

Extensive Resection of Malignant Brain Tumors Using Advanced Imaging Techniques

Posted: October 2nd, 2024, 11:00pm UTC

Conditions: Glioblastoma; Astrocytoma, IDH-Mutant, Grade 4
Interventions: Procedure: Multimodal image-guided resection
Sponsors: Amsterdam UMC, location VUmc
Recruiting

Dietary Restriction to Prevent Cardiotoxicity in Breast Cancer Patients

Posted: October 2nd, 2024, 11:00pm UTC

Conditions: Cardiotoxicity; Breast Cancer
Interventions: Other: Protein- and Calorie restriction
Sponsors: Erasmus Medical Center
Recruiting

The Clinical Study of the Treatment of Patients With Type I Neurofibromatosis With Smetinib Hydrosulfate Capsule

Posted: October 1st, 2024, 11:00pm UTC

Conditions: Neurofibromatosis 1
Interventions: Drug: Selumetinib
Sponsors: Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
Not yet recruiting

NEUROmuscular Training for Enhanced AGE Longevity

Posted: October 1st, 2024, 11:00pm UTC

Conditions: Aging; Physical Activity; Training
Interventions: Dietary Supplement: Water-based power resistance training + Dietary supplement I (WPowDSI); Dietary Supplement: Water-based power resistance training + Placebo (WPowPl); Dietary Supplement: Elastic band-based power resistance training + Dietary supplement I (EBPowDSI); Dietary Supplement: Elastic band-based power resistance training + Placebo (EBPowPl); Dietary Supplement: Elastic band-based eccentric resistance training + Dietary supplement II (EBEccDSII); Dietary Supplement: Elastic band-based eccentric resistance training + Placebo (EBEccPl); Dietary Supplement: Elastic band-based maximum strength resistance training + Dietary supplement II (EBMaxDSII); Dietary Supplement: Elastic band-based maximum strength resistance training + Placebo (EBMaxPl); Dietary Supplement: Control + Placebo (CPl); Dietary Supplement: Control + Dietary supplement I (CDSI); Dietary Supplement: Control + Dietary supplement (CDSII); Dietary Supplement: Active Comparator: Aerobic training + Placebo (AerPl)
Sponsors: University of Valencia; Generalitat Valenciana; Indiex Sport Nutrition Spail SL
Active, not recruiting

Impact of IDH Mutation and Adjuvant Chemo(radio)therapy on Survival Outcome in Grade II/III Astrocytoma

Posted: October 1st, 2024, 11:00pm UTC

Conditions: Astrocytoma; Astrocytic Tumors; Astrocytoma of Brain
Interventions: Other: IDH mutant-type; Other: IDH wild-type
Sponsors: asmaa salama ibrahim
Completed

Transnasal Sphenopalatine Ganglion Block for Treatment of Acute Subarachnoid Hemorrhage Associated Headache

Posted: October 1st, 2024, 11:00pm UTC

Conditions: SAH (Subarachnoid Hemorrhage); Headache
Interventions: Combination Product: Transnasal sphenopalatine ganglion block
Sponsors: University of California, Davis; Agnes Marshall Walker Foundation
Not yet recruiting

Permalink for 'Trial for Local Ablative Treatment (LAT) Optimization in Patients With Advanced Non-Small Cells Lung Cancer (NSCLC) Presenting an Anaplastic Lymphoma Kinase (ALK) Rearrangement Treated by Brigatinib'

Trial for Local Ablative Treatment (LAT) Optimization in Patients With Advanced Non-Small Cells Lung Cancer (NSCLC) Presenting an Anaplastic Lymphoma Kinase (ALK) Rearrangement Treated by Brigatinib

Posted: October 1st, 2024, 11:00pm UTC

Conditions: NSCLC
Interventions: Biological: Blood samples for Hematology; Biological: Blood samples for Chemistry; Biological: Blood sample for liver function tests; Biological: Pregnancy test; Procedure: Tumour assessment; Procedure: Local Ablative Therapy (LAT)
Sponsors: Groupe Francais De Pneumo-Cancerologie
Not yet recruiting

Ex Vivo Drug Response Evaluation for Next Generation Care of Brain Metastases

Posted: October 1st, 2024, 11:00pm UTC

Conditions: Brain Metastases; Brain Metastases, Adult
Interventions: Device: Pharmacoscopy 1.0; Other: Control
Sponsors: University of Zurich
Not yet recruiting

Mapping the Effect of (neuro)inflammation on Stress Sensitivity in the Brain of Healthy Men

Posted: October 1st, 2024, 11:00pm UTC

Conditions: Inflammation; Stress; Healthy Volunteer
Interventions: Biological: Lipopolysaccharide (LPS); Other: Placebo
Sponsors: Universitaire Ziekenhuizen KU Leuven
Recruiting

Brain Irradiation for Childhood Cancer - Endocrine Monitoring During the First Years

Posted: September 30th, 2024, 11:00pm UTC

Conditions: Endocrine; Deficiency; Hypothalamo-Pituitary Disorder; Radiotherapy Side Effect
Interventions: Radiation: Blood sample, urine sample, osteodensitometry
Sponsors: University Hospital, Angers
Not yet recruiting

Prognostic IntraOperative Biomarkers IdeNtification in Tumor RElatEd SuRgery

Posted: September 27th, 2024, 11:00pm UTC

Conditions: Glioma; Glioblastoma (GBM); Brain Tumor-Glioma
Interventions: Device: Neuropixel probe recording
Sponsors: Erasmus Medical Center
Not yet recruiting

Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease

Posted: September 26th, 2024, 11:00pm UTC

Conditions: GM2 Gangliosidosis; Tay Sachs Disease; Sandhoff Disease
Interventions: Drug: AXO-AAV-GM2
Sponsors: Terence Flotte
Active, not recruiting

A Phase IB 2 Dose Trial of IRS-1 HSV C134 (IND 17296) Administered Intratumorally in Patients With Recurrent Malignant Glioma

Posted: September 26th, 2024, 11:00pm UTC

Conditions: Glioblastoma; Glioblastoma (GBM); Astrocytoma; Astrocytoma, Grade III; Astrocytoma, Grade IV; Gliosarcoma, Adult; Gliosarcoma of Brain
Interventions: Drug: C134; Drug: C134
Sponsors: James Markert, MD
Not yet recruiting

Multitracer [18F]Fluciclovine and 18F-FDG PET, and Advanced MRI for Metabolic Profiling of Glioblastoma

Posted: September 26th, 2024, 11:00pm UTC

Conditions: Glioblastoma; Recurrent Glioblastoma; Glioblastoma Multiforme of Brain
Interventions: Drug: Fluciclovine F18
Sponsors: Abramson Cancer Center at Penn Medicine
Not yet recruiting

Tumor Absorbed Dose-Response Relationship in Patients Treated With 177Lu-DOTATATE for Meningioma

Posted: September 26th, 2024, 11:00pm UTC

Conditions: Meningioma of Brain
Interventions: Diagnostic Test: tumoral dosimetry by scintigraphy
Sponsors: Central Hospital, Nancy, France
Not yet recruiting

Third-generation EGFR-TKI Treatment in Metastatic EGFR-mutant NSCLC: a Prospective, Observational Study

Posted: September 26th, 2024, 11:00pm UTC

Conditions: Third-generation TKI; NSCLC (Advanced Non-small Cell Lung Cancer)
Interventions: Drug: third-generation EGFR-TKI (Osimertinib, Almonertinib or Furmonertinib)
Sponsors: Fudan University
Completed

Antirotinib Hydrochloride Plus Whole Brain Radiotherapy for Small Cell Lung Cancer With Brain Metastases

Posted: September 25th, 2024, 11:00pm UTC

Conditions: Whole Brain Radiotherapy
Interventions: Drug: Antirotinib hydrochloride
Sponsors: Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Active, not recruiting

Feasibility of CSF and Plasma ctDNA in BRAF-altered Glioma During Treatment With Plixorafenib

Posted: September 24th, 2024, 11:00pm UTC

Conditions: BRAF V600E Mutation
Interventions: Drug: Plixorafenib
Sponsors: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins; Fore Biotherapeutics; Ivy Brain Tumor Foundation
Not yet recruiting

Cardiovascular Multimodality Imaging Study

Posted: September 24th, 2024, 11:00pm UTC

Conditions: Non-ischemic Cardiomyopathy; Cardiomyopathies; Hypertrophic Cardiomyopathy; Right Ventricular Arrhythmogenic Cardiomyopathy; Cardiac Amyloidosis; Anderson Fabry Disease; Sarcoidosis; Cancer Therapy-related Cardiac Dysfunction; Ventricular Arrythmia; Heart Failure
Sponsors: Montefiore Medical Center
Not yet recruiting

Permalink for 'BEAT-Breast: A Pilot Non-randomised Single Arm Phase 2 Trial of DE-iPTV in Patients With Primary Breast Cancer With Brain Metastases Who Are Not Suitable for Stereotactic Radiotherapy.'

BEAT-Breast: A Pilot Non-randomised Single Arm Phase 2 Trial of DE-iPTV in Patients With Primary Breast Cancer With Brain Metastases Who Are Not Suitable for Stereotactic Radiotherapy.

Posted: September 24th, 2024, 11:00pm UTC

Conditions: Brain Metastases, Adult; Breast Cancer
Interventions: Radiation: DE-iPTV
Sponsors: Imperial College London; University of Leicester; Centro Nacional de Investigaciones Oncologicas CARLOS III; East and North Hertfordshire NHS Trust; Norfolk and Norwich University Hospitals NHS Foundation Trust; Imperial College Healthcare NHS Trust
Not yet recruiting

Acromegaly Resistant to Conventional Dose of First Generation Somatostatin Ligands

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Acromegaly
Interventions: Drug: Lanreotide autogel
Sponsors: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Completed

Opioid-free Anesthesia Protocol for Neurosurgical Supratentorial Tumor Resection

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Supratentorial Tumors
Interventions: Drug: the opioid-based control group; Drug: the opioid-free anesthesia group
Sponsors: Beijing Tiantan Hospital
Not yet recruiting

Permalink for 'ENDO-BRAIN: Effects of Endocrine Adjuvant Therapy with Aromatase Inhibitors on the Cognitive Function of Breast Cancer Patients'

ENDO-BRAIN: Effects of Endocrine Adjuvant Therapy with Aromatase Inhibitors on the Cognitive Function of Breast Cancer Patients

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Cognitive Side Effects of Cancer Therapy; Hypoestrogenism
Interventions: Diagnostic Test: validated questionnaires; Diagnostic Test: functional MRI; Diagnostic Test: Optical Coherent Tomography Angiography
Sponsors: Ospedale Policlinico San Martino; University of Genova
Recruiting

Permalink for 'Loncastuximab Tesirine and Rituximab Following Stereotactic Radiosurgery (SRS) in Patients With Primary and Secondary Central Nervous System Lymphomas (Lonca-R After SRS in CNSL)'

Loncastuximab Tesirine and Rituximab Following Stereotactic Radiosurgery (SRS) in Patients With Primary and Secondary Central Nervous System Lymphomas (Lonca-R After SRS in CNSL)

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Central Nervous System Lymphoma
Interventions: Drug: Loncastuximab tesirine and rituximab (Lonca-R)
Sponsors: University of Utah; ADC Therapeutics S.A.
Not yet recruiting

Inflammatory Markers (ICC, MCVL) and Nivolumab Response: Predicting Immunotherapy Success in Metastatic RCC

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Metastatic Renal Cell Carcinoma
Sponsors: Dr. Lutfi Kirdar Kartal Training and Research Hospital
Completed

Ketamine, SGB and Combination Treatment for TBI

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Posttraumatic Headache; Posttraumatic Stress Disorder
Interventions: Procedure: Group A active comparator; Drug: Group B active comparator; Combination Product: Group C Experimental; Other: Group D Placebo Comparator
Sponsors: Northwestern University; Walter Reed National Military Medical Center; Lviv National Medical University
Not yet recruiting

Development and Validation of the FBIndex to Determine the Risk of Falls for Patients with Neuromuscular Disorders

Posted: September 20th, 2024, 11:00pm UTC

Conditions: Inclusion Body Myositis; Myotonic Dystrophy; Limb-girdle and Facioscapulohumeral Muscular Dystrophies; Pompe Disease; Myasthenia Gravis; Lambert-Eaton-Syndrome; Amyotrophic Lateral Sclerosis; Spinal Muscular Atrophy; Guillain-BarrÃ© Syndrome; Chronic Inflammatory Demyelinating Polyneuropathy; Friedreich Ataxia; Hereditary Motor Sensory Neuropathy
Sponsors: LMU Klinikum
Enrolling by invitation

Arginin-stimulated Copeptin in Polyuria-polydipsia Syndrome in Children

Posted: September 20th, 2024, 11:00pm UTC

Conditions: Primary Polydipsia; Central Diabetes Insipidus; Nephrogenic Diabetes Insipidus
Interventions: Procedure: Measure of Basal Copeptin level; Procedure: Measure of arginine-stimulated copeptin; Procedure: IRM; Behavioral: Water reduction at home
Sponsors: Assistance Publique Hopitaux De Marseille
Not yet recruiting

Permalink for 'AI-guided Prognostication and Cranial Radiotherapy Optimization in EGFR-TKI-treated Non-small Cell Lung Cancer Patients With Baseline Brain Metastases'

AI-guided Prognostication and Cranial Radiotherapy Optimization in EGFR-TKI-treated Non-small Cell Lung Cancer Patients With Baseline Brain Metastases

Posted: September 19th, 2024, 11:00pm UTC

Conditions: NSCLC (Advanced Non-small Cell Lung Cancer); Brain Metastasases
Interventions: Drug: third-generation EGFR TKIs (Almonertinib/Furmonertinib/Osimertinib)
Sponsors: Fudan University
Not yet recruiting

Permalink for 'A Single-arm, Prospective Phase â…¡ Clinical Study of Utidelone Combined with Capecitabine in the Treatment of Active Brain Metastasis of TNBC'

A Single-arm, Prospective Phase â…¡ Clinical Study of Utidelone Combined with Capecitabine in the Treatment of Active Brain Metastasis of TNBC

Posted: September 19th, 2024, 11:00pm UTC

Conditions: Metastatic Breast Cancer
Interventions: Drug: Utidelone and capecitabine
Sponsors: Henan Cancer Hospital
Recruiting

Secondary Prevention of VTE in Patients with Cancer and Catheter-Related Upper Extremity Deep Vein Thrombosis

Posted: September 19th, 2024, 11:00pm UTC

Conditions: Venous Thromboembolism; Cancer; Upper Extremity Deep Vein Thrombosis; Catheter-Related Infections
Interventions: Drug: Apixaban
Sponsors: Ottawa Hospital Research Institute
Not yet recruiting

Permalink for 'TMLI/Fludarabine/Melphalan Conditioning for Allogeneic Transplantation in High-risk Myelodysplastic Syndrome or Acute Myeloid Leukemia.'

TMLI/Fludarabine/Melphalan Conditioning for Allogeneic Transplantation in High-risk Myelodysplastic Syndrome or Acute Myeloid Leukemia.

Posted: September 19th, 2024, 11:00pm UTC

Conditions: Myelodysplastic Syndromes; Acute Myeloid Leukemia
Interventions: Combination Product: TMLI/Flu/Mel
Sponsors: FundaciÃ³n PÃºblica Andaluza para la gestiÃ³n de la InvestigaciÃ³n en Sevilla
Not yet recruiting

Irradiation in Paediatrics: Neurocognition, Neuroimaging and Evaluation of Memory and Attention

Posted: September 19th, 2024, 11:00pm UTC

Conditions: Brain Tumor, Pediatric
Interventions: Other: Neuropsychological assessments:
Sponsors: Institut Claudius Regaud
Not yet recruiting

Early Application of Memantine and Pioglitazone to Protect Cognitive Function After Radiotherapy

Posted: September 13th, 2024, 11:00pm UTC

Conditions: Radiation Disease; Cognitive Impairment; Drug Effect
Interventions: Drug: Memantine Oral Tablet; Drug: Pioglitazone 15mg; Radiation: Hippocampal avoidance whole-brain radiotherapy (HA-WBRT)
Sponsors: Affiliated Cancer Hospital & Institute of Guangzhou Medical University; Guangdong Provincial People's Hospital; Fujian Medical University Union Hospital; Southern Medical University, China; The Affiliated Panyu Center Hospital of Guangzhou Medical University; The Central Hospital of Shaoyang City
Not yet recruiting

Fluid Responsiveness in Posterior Fossa Tumor Resection: PPV and CVP Guidance

Posted: September 13th, 2024, 11:00pm UTC

Conditions: Posterior Fossa Tumor; Brain Tumor Adult
Interventions: Procedure: Pulse pressure variation; Procedure: Central venous pressure
Sponsors: Chiang Mai University
Active, not recruiting

Observational Study on Characteristics and Survival Correlates of Progressive Multifocal Leukoencephalopathy (PML) in Italy

Posted: September 13th, 2024, 11:00pm UTC

Conditions: Progressive Multifocal Leukoencephalopathy; PML
Sponsors: Scientific Institute San Raffaele
Completed

Postoperative Complications Following Skull Base Tumor Resection

Posted: September 9th, 2024, 11:00pm UTC

Conditions: Skull Base Tumor; Postoperative Complications
Interventions: Other: Pulmonary ultrasound examination
Sponsors: Beijing Tiantan Hospital
Not yet recruiting

A Real-world Study to Assess the Use of Siponimod in Spain to Treat Patients With Secondary Progressive Multiple Sclerosis

Posted: September 9th, 2024, 11:00pm UTC

Conditions: Secondary Progressive Multiple Sclerosis
Sponsors: Novartis
Completed

JK-1201I in Triple Negative Breast Cancer Patients with Brain Metastases

Posted: September 6th, 2024, 11:00pm UTC

Conditions: Triple Negative Breast Cancer (TNBC); Brain Metastasases
Interventions: Drug: JK-1201I
Sponsors: JenKem Technology Co., Ltd.
Not yet recruiting

Molecular Pituitary Imaging Using 18F-FET PET

Posted: September 4th, 2024, 11:00pm UTC

Conditions: Pituitary Adenoma
Interventions: Diagnostic Test: 18F-Fluoro-ethyl-tyrosine (FET) PET
Sponsors: University of Cambridge; Cambridge University Hospitals NHS Foundation Trust
Not yet recruiting

Quest to Analyze One Thousand Humans Meditating

Posted: September 4th, 2024, 11:00pm UTC

Conditions: Amyotrophic Lateral Sclerosis (ALS); Angina, Stable; Anxiety; Asthma; Atrial Fibrillation; Cancer Brain; Cancer, Breast; Cancer Colon; Cancer, Lung; Cancer, Ovarian; Cancer Prostate; Cancer Skin; Throat Cancer; Lymphoma; Cancer, Thyroid; Cancer, Other; Cerebral Palsy; Chronic Fatigue Syndrome; Cluster Headache; Chronic Obstructive Pulmonary Disease (COPD); Chronic Kidney Diseases; Crohn Disease; Deafness; Depression; Diabetes; Eczema; Epilepsy; Fibroids; Fibromyalgia; Heart Failure; Hypertension; Hyperthyroidism; Hypothyroidism; Irritable Bowel Syndrome (IBS); Infertility; Lyme Disease; Macular Degeneration; Migraine; Multiple Allergies; Multiple Sclerosis; Osteoarthritis; Osteoporosis; Ovarian Cysts; Parkinson Disease; Phantom Limb Pain; Psoriasis; Post Traumatic Stress Disorder (PTSD); Rheumatoid Arthritis; Sjogrens Disease; Spinal Cord Injury; Spinal Stenosis; Stroke; Tension Headache; Tinnitus; Ulcerative Colitis
Interventions: Behavioral: Advanced multi-component meditation practice
Sponsors: Tobias Moeller-Bertram; Metamorphosis, LLC; University of California, San Diego
Enrolling by invitation

Emulation of the Moderate Alcohol and Cardiovascular Health Trial (MACH15)

Posted: September 3rd, 2024, 11:00pm UTC

Conditions: Myocardial Infarction; Ischemic Stroke; Angina Pectoris; Coronary Revascularization; All-cause Mortality; Cardiovascular Death; Type 2 Diabetes; Heart Failure; Atrial Fibrillation; Cancer; Dementia; Depression; Infections; Injuries; Liver Cirrhosis
Interventions: Behavioral: Moderate drinking; Behavioral: Quitting; Behavioral: Social drinking; Behavioral: Heavy/binge drinking
Sponsors: Harvard School of Public Health (HSPH)
Completed

Stop Addiction Stigma

Posted: September 2nd, 2024, 11:00pm UTC

Conditions: Hematopoietic and Lymphatic System Neoplasm; Malignant Solid Neoplasm
Interventions: Behavioral: Assessment; Other: Educational Activity; Other: Educational Activity; Other: Educational Activity; Other: Educational Activity; Other: Educational Activity; Other: Educational Activity; Other: Training
Sponsors: Ohio State University Comprehensive Cancer Center
Completed

Permalink for 'Elimination of PTV Margins Based on MRI-guided Adaptive Stereotactic Radiotherapy for Non-small Cell Lung Cancer With Brain Metastasis'

Elimination of PTV Margins Based on MRI-guided Adaptive Stereotactic Radiotherapy for Non-small Cell Lung Cancer With Brain Metastasis

Posted: September 2nd, 2024, 11:00pm UTC

Conditions: MRI-guided Adaptive Radiotherapy; Non-small Cell Lung Cancer; Brain Metastasis
Interventions: Radiation: MRI-guided adaptive SRT; Radiation: Conventional SRT
Sponsors: Sun Yat-sen University
Recruiting

Enhanced Assistance During Radiotherapy for Unmet Essential Needs

Posted: September 2nd, 2024, 11:00pm UTC

Conditions: Bone Cancer; Brain Cancer; Colorectal Cancer; Esophagus Cancer; Lymphoma; Salivary Gland Cancer; Head and Neck Cancer; Liver Cancer; Ovarian Cancer; Pancreatic Cancer; Prostate Cancer; Small Intestine Cancer; Stomach Cancer; Urinary Bladder Cancer; Anal Cancer; Blood Cancer; Breast Cancer; Cervical Cancer; Lung Cancer; Kidney Cancer; Penile Cancer; Skin Cancer; Testicular Cancer; Thyroid Cancer; Uterine Cancer; Vaginal Cancer; Vulvar Cancer
Interventions: Other: Standard assistance; Other: Enhanced assistance
Sponsors: Washington University School of Medicine; American Society of Clinical Oncology
Recruiting

Repurposing Riluzole for Cancer-Related Cognitive Impairment: a Pilot Trial

Posted: August 30th, 2024, 11:00pm UTC

Conditions: Breast Cancer
Interventions: Drug: Riluzole; Drug: Placebo
Sponsors: University of California, Irvine
Not yet recruiting

Effects of Thai Dance Meditation Exercise on Renal and Cerebrovascular Function in Elderly With Diabetic Kidney Disease

Posted: August 29th, 2024, 11:00pm UTC

Conditions: Diabetic Kidney Disease
Interventions: Other: Thai dance meditation; Other: No intervention
Sponsors: Chulalongkorn University
Completed

Using the Chemical Modifications Present on RNA Molecules to Diagnose and Treat Brain Cancer

Posted: August 28th, 2024, 11:00pm UTC

Conditions: Glioma
Interventions: Diagnostic Test: Blood, urine and tumoral tissue samples; Diagnostic Test: Tumoral tissue samples
Sponsors: Institut du Cancer de Montpellier - Val d'Aurelle; National Cancer Institute, France
Not yet recruiting

Relationships of Affect and Neuroinflammation With Clinical Pain in Veterans With Fibromyalgia

Posted: August 27th, 2024, 11:00pm UTC

Conditions: Fibromyalgia
Interventions: Behavioral: Moderate Intensity Continuous Training
Sponsors: VA Office of Research and Development
Not yet recruiting

USPIO Enhanced MR Imaging in CNS Tumours (UMIC)

Posted: August 27th, 2024, 11:00pm UTC

Conditions: Vestibular Schwannoma; Glioma, Astrocytic
Interventions: Diagnostic Test: USPIO enhanced MRI
Sponsors: Northern Care Alliance NHS Foundation Trust
Recruiting

Institutional Registry of Rare Diseases

Posted: August 27th, 2024, 11:00pm UTC

Conditions: Rare Diseases; Amyloidosis; Sarcoidosis; Phacomatosis; Pheochromocytoma; Paraganglioma; Von Hippel-Lindau Disease; Immunoglobulin G4-Related Disease; Demyelinating Diseases; Inborn Errors of Metabolism; Eosinophilic Gastrointestinal Disorders; Hypertrophic Cardiomyopathy; Gaucher Disease; Congenital Adrenal Hyperplasia; Hereditary Angioedema; Pulmonary Hypertension; Wilson Disease; Vascular Anomalies; Mastocytosis; Multiple Endocrine Neoplasia; Inflammatory Bowel Diseases; Prader-Willi Syndrome; Hirschsprung Disease; Cushing Syndrome
Sponsors: Hospital Italiano de Buenos Aires
Recruiting

Use of a Cannabinoids as a Treatment Strategy for Alzheimer's Disease

Posted: August 26th, 2024, 11:00pm UTC

Conditions: Alzheimer Disease
Interventions: Other: Cannabis; Other: Placebo
Sponsors: Federal University of Latin American Integration
Recruiting

Reinforcement Learning and Obsessive-compulsive Disorder: Exploring the Role of the Orbitofrontal Cortex

Posted: August 22nd, 2024, 11:00pm UTC

Conditions: Obsessive-Compulsive Disorder
Sponsors: Fundacao Champalimaud
Recruiting

Permalink for 'A Real-World Comparative Study of Donanemab (LY3002813) Plus Usual Care Versus Usual Care Alone in US Participants With Early Symptomatic Alzheimer's Disease'

A Real-World Comparative Study of Donanemab (LY3002813) Plus Usual Care Versus Usual Care Alone in US Participants With Early Symptomatic Alzheimer's Disease

Posted: August 22nd, 2024, 11:00pm UTC

Conditions: Alzheimer Disease
Interventions: Drug: Donanemab; Drug: Usual Care
Sponsors: Eli Lilly and Company
Not yet recruiting

The Safety and Efficacy of Rapamycin on Communicating Hydrocephalus Secondary to Intraventricular Hemorrhage

Posted: August 21st, 2024, 11:00pm UTC

Conditions: Communicating Hydrocephalus; Cerebral Intraventricular Hemorrhage; Secondary Normal Pressure Hydrocephalus; Post Hemorrhagic Hydrocephalus
Interventions: Drug: Rapamycin
Sponsors: Beijing Tiantan Hospital
Recruiting

18F-FET PET/CT in the Management of Glioma

Posted: August 20th, 2024, 11:00pm UTC

Conditions: Glioma
Interventions: Device: 18F-FET PET/CT
Sponsors: Buddhist Tzu Chi General Hospital
Completed

Ibrutinib and Acalabrutinib Use and Risk of Atrial Fibrillation in Patients With Chronic B-cell Malignancies

Posted: August 20th, 2024, 11:00pm UTC

Conditions: Chronic B-cell Malignancies; BTK Inhibitors; Cardiovascular Diseases
Interventions: Drug: BTK inhibitor (Ibrutinib or Acalabrutinib)
Sponsors: University Hospital, Caen
Active, not recruiting

Clinical Study on the Safety and Efficacy of Novel Oncolytic Virus in the Treatment of Recurrent Malignant Glioma

Posted: August 20th, 2024, 11:00pm UTC

Conditions: Glioblastoma Multiforme; Gliomas, Malignant
Interventions: Biological: ON-01; Drug: ONF
Sponsors: Beijing Neurosurgical Institute
Completed

Testing a Brief Exercise Intervention in Hoarding Disorder

Posted: August 20th, 2024, 11:00pm UTC

Conditions: Hoarding Disorder
Interventions: Behavioral: Exercise Condition; Behavioral: Relaxation Control Condition
Sponsors: Hartford Hospital; University of Miami
Not yet recruiting

Evaluation of Postoperative Intracranial Pressure in Patients Undergoing Intracranial Tumor Surgery

Posted: August 19th, 2024, 11:00pm UTC

Conditions: INTRACRANIAL TUMOR; INTRACRANIAL PRESSURE; OPTIC NERVE
Interventions: Procedure: USG; Procedure: BCT
Sponsors: Sezen KumaÅŸ Solak; Bagcilar Training and Research Hospital
Not yet recruiting

Effectiveness of Probiotics for the Prevention of Gastrointestinal Toxicity in Children With Leukemia

Posted: August 19th, 2024, 11:00pm UTC

Conditions: Probiotics; Gastrointestinal Diseases; Precursor Cell Lymphoblastic Leukemia-Lymphoma
Interventions: Biological: Lactobacillus casei; Biological: Lactobacillus rhamnosus; Biological: Bifidobacterium bifidum; Dietary Supplement: Placebo
Sponsors: National Institute of Pediatrics, Mexico
Not yet recruiting

Carotid Artery Stenosis and Ischemic Cerebrovascular Events After Radiotherapy in Patients With Head and Neck Cancer

Posted: August 16th, 2024, 11:00pm UTC

Conditions: Carotid Artery Stenosis; Head and Neck Cancer; Radiation Therapy; Transient Ischemic Attack; Ischemic Stroke
Interventions: Radiation: Radiotherapy
Sponsors: Chulabhorn Royal Academy
Completed

Study on Prevalence and Impact of Brain Metastases on Survival in Lung Cancer by Line of Treatment

Posted: August 16th, 2024, 11:00pm UTC

Conditions: Non-small Cell Lung Cancer; Lung Cancer; Metastatic Cancer; Brain and Central Nervous System Cancer
Interventions: Other: No drug
Sponsors: Daiichi Sankyo
Active, not recruiting

$Permalink for 'Adjuvant Hypofractionated Stereotactic Radiosurgery for Intermediate-risk Meningioma'$

Adjuvant Hypofractionated Stereotactic Radiosurgery for Intermediate-risk Meningioma

Posted: August 16th, 2024, 11:00pm UTC

Conditions: Meningioma; Meningioma, Malignant; Recurrent Meningioma
Interventions: Radiation: Hypofractionated Stereotactic Radiosurgery (SRS); Procedure: Magnetic Resonance Imaging (MRI); Procedure: Computed Tomography (CT)
Sponsors: University of California, San Francisco; American Society of Clinical Oncology
Not yet recruiting

Hippocampus-Avoidance Whole-Brain Radiation Therapy With Simultaneous Integrated Boost for BMs of NSCLC

Posted: August 16th, 2024, 11:00pm UTC

Conditions: Brain Metastases; Non-small Cell Lung Cancer
Interventions: Radiation: ippocampus-Avoidance Whole-Brain Radiation Therapy With Simultaneous Integrated Boost
Sponsors: Yatian Liu
Completed

Effects of HIIT on Bone Metabolism in Individuals With Chronic Stroke

Posted: August 15th, 2024, 11:00pm UTC

Conditions: Stroke; Bone Loss
Interventions: Other: High-intensity interval training group; Other: Moderate-intensity continuous training group; Other: Stretching group
Sponsors: The Hong Kong Polytechnic University
Not yet recruiting

Surgical and Pharmacological Efficacy of Knosp Grade 0-2 Prolactinoma

Posted: August 15th, 2024, 11:00pm UTC

Conditions: Pituitary Tumor
Interventions: Procedure: Transnasal transsphenoidal pituitary lesion resection under neuroendoscopy; Drug: Bromocriptin 2.5mg, 2-3 times a day
Sponsors: Second Affiliated Hospital, School of Medicine, Zhejiang University; Peking Union Medical College Hospital; West China Hospital; First Affiliated Hospital of Wenzhou Medical University; Ningbo Medical Center Lihuili Hospital
Not yet recruiting

RESET-BRAIN: REhabilitation of SleEp and cogniTive Impairment in BReast Cancer Survivors Using an App-based Intervention

Posted: August 14th, 2024, 11:00pm UTC

Conditions: Insomnia; Cognitive Impairment; Breast Cancer
Interventions: Behavioral: Cognitive Behavioral Therapy for Insomnia (CBT-I); Behavioral: Sleep hygiene education
Sponsors: Aarhus University Hospital; University of Aarhus
Not yet recruiting

Selinexor With ICE Chemotherapy in Secondary Central Nervous System Involving B-cell Non-Hodgkin Lymphoma

Posted: August 14th, 2024, 11:00pm UTC

Conditions: B-cell Lymphoma Recurrent; B-cell Lymphoma Refractory; CNS Metastases
Interventions: Drug: Selinexor
Sponsors: Samsung Medical Center; Korean Society of Hematology
Recruiting

Acupuncture Reduces Relapse in Patients With Crohn's Disease: a Superiority Trial

Posted: August 14th, 2024, 11:00pm UTC

Conditions: Crohn's Disease Relapse; Inflammatory Bowel Diseases
Interventions: Other: "Harmonizing Shaoyang, nourishing spleen and kidney with warmth" Acupuncture Group; Other: "Nourishing spleen and kidney with warmth" Acupuncture Group
Sponsors: Shanghai Institute of Acupuncture, Moxibustion and Meridian; Ruijin Hospital
Recruiting

The Effect of Cancer Treatments on Speech Perception in Noise, Cognition, and Hearing-Related Quality of Life

Posted: August 13th, 2024, 11:00pm UTC

Conditions: Cancer; Hearing Loss Ototoxic; Cognitive Decline; Quality of Life
Interventions: Other: Chemotherapy, chemoradiation, radiation therapy
Sponsors: Turku University Hospital
Not yet recruiting

A Surgical Window of Opportunity Clinical Trial of Troriluzole in Recurrent IDH Wild-Type Glioblastoma

Posted: August 13th, 2024, 11:00pm UTC

Conditions: Glioblastoma; Recurrent Glioblastoma; Brain Tumor
Interventions: Drug: Troriluzole
Sponsors: Eudocia Quant Lee, MD; National Institutes of Health (NIH); Biohaven Pharmaceuticals, Inc.
Not yet recruiting

Phase II Efficacy Study of Repotrectinib in Frail and/or Elderly Patients With ROS1-rearranged Advanced NSCLC

Posted: August 13th, 2024, 11:00pm UTC

Conditions: NSCLC Stage IV; NSCLC, Stage III
Interventions: Drug: Repotrectinib
Sponsors: Centre Hospitalier Intercommunal de Toulon La Seyne sur Mer; Groupe FranÃ§ais de Pneumo-CancÃ©rologie; Hospices Civils de Lyon
Not yet recruiting

Real-life Second-line Epirubicin-Paclitaxel Regimen as Treatment of Relapsed Small-Cell Lung Cancer : EpiTax Study.

Posted: August 13th, 2024, 11:00pm UTC

Conditions: Advanced Small Cell Lung Carcinoma
Sponsors: University Hospital, Brest
Completed

Radioimmunotherapy in Solid Tumors (PNRR-MCNT2-2023-12378239-Aim2)

Posted: August 13th, 2024, 11:00pm UTC

Conditions: Glioblastoma
Interventions: Radiation: Neoaddjuvant Stereotactic Radiotherapy with Simultaneous Integrated Boost
Sponsors: IRCCS San Raffaele; European Commission; Istituto Nazionale Tumori IRCCS - Fondazione G. Pascale; Azienda Ospedaliera di Rilievo Nazionale e di Alta SpecialitÃ San Giuseppe Moscati (Avellino)
Not yet recruiting

Clinical Outcomes Following Primary Intracerebral Hemorrhage

Posted: August 12th, 2024, 11:00pm UTC

Conditions: Stroke; Intracerebral Hemorrhage
Sponsors: Second Affiliated Hospital, School of Medicine, Zhejiang University; The People's Hospital of Haiyan; Taizhou First People's Hospital; The First People's Hospital of Pinghu; The 2nd People's Hospital of Quzhou
Recruiting

Permalink for 'Investigating Mechanistic Predictors of Interpatient Variability and Temozolomide (TMZ) Induced Haematological Toxicity for Glioma Patients'

Investigating Mechanistic Predictors of Interpatient Variability and Temozolomide (TMZ) Induced Haematological Toxicity for Glioma Patients

Posted: August 9th, 2024, 11:00pm UTC

Conditions: Glioma
Sponsors: University College Cork; University Hospital Waterford
Recruiting

Permalink for 'Efficacy and Safety of Intrathecal Administration of Thiotepa in Combination With Methotrexate in Breast Cancer With Leptomeningeal Metastasis'

Efficacy and Safety of Intrathecal Administration of Thiotepa in Combination With Methotrexate in Breast Cancer With Leptomeningeal Metastasis

Posted: August 8th, 2024, 11:00pm UTC

Conditions: Leptomeningeal Metastasis of Breast Cancer
Interventions: Drug: Intrathecal Administration of Thiotepa in Combination with Methotrexate via the Ommaya Reservoir
Sponsors: The First Affiliated Hospital with Nanjing Medical University; The Affiliated Brain Hospital of Nanjing Medical University
Recruiting

Multicentre Clinical Study of Ultra-Fast-Track Anaesthesia for Minimally Invasive Heart Valve Surgery

Posted: August 7th, 2024, 11:00pm UTC

Conditions: Heart Valve Diseases; Enhanced Recovery After Surgery
Interventions: Procedure: Ultra-Fast-Track Cardiac Anesthesia(UFTCA); Procedure: conventional general anesthesia (CGA)
Sponsors: Zhejiang Provincial People's Hospital; Beijing Anzhen Hospital; Fudan University; Wuhan Asia Heart Hospital; Tianjin Chest Hospital; Chinese PLA General Hospital; First Affiliated Hospital Xi'an Jiaotong University; Xiangya Hospital of Central South University; The Fourth Affiliated Hospital of Zhejiang University School of Medicine; Guangdong Provincial People's Hospital
Not yet recruiting

FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases

Posted: August 6th, 2024, 11:00pm UTC

Conditions: Alpha-Thalassemia; Beta-Thalassemia; Amyloidosis; Amyotrophic Lateral Sclerosis; Creutzfeld-Jakob Disease; Cystic Fibrosis; Duchenne Muscular Dystrophy; Early-Onset Alzheimer Disease; Ehlers-Danlos Syndrome; Huntington Disease; Gaucher Disease; GM1 Gangliosidosis; Myasthenia Gravis; Pompe Disease; Sickle Cell Disease; Transthyretin Amyloid Cardiomyopathy; Rare Diseases
Sponsors: xCures
Recruiting

Efficacy, Safety and Neural Mechanism of Stellate Ganglion Block in the Treatment of Anxiety. Disorder.

Posted: August 6th, 2024, 11:00pm UTC

Conditions: Anxiety Disorders; Stellate Ganglion Block
Interventions: Other: Stellate Ganglion Block
Sponsors: Nanjing Medical University
Not yet recruiting

Permalink for 'Low-Intensity Oscillatory Magnetic Therapy in Patients With Newly Diagnosed Glioblastoma Multiforme (GBM) - An Exposure-time Escalation Pilot Trial'

Low-Intensity Oscillatory Magnetic Therapy in Patients With Newly Diagnosed Glioblastoma Multiforme (GBM) - An Exposure-time Escalation Pilot Trial

Posted: August 1st, 2024, 11:00pm UTC

Conditions: Glioblastoma Multiforme
Interventions: Device: Oncomagnetic device
Sponsors: BioTex, Inc.
Not yet recruiting

Quantitative Pupillometry in Brain Injury Children : Variation After Osmotherapy

Posted: October 15th, 2024, 11:00pm UTC

Conditions: Children Brain Injury
Interventions: Device: pupillometer; Device: pupillometer
Sponsors: University Hospital, Grenoble
Not yet recruiting

Evaluating High-dose Furmonertinib With Bevacizumab and Pemetrexed for EGFRm NSCLC With Leptomeningeal Metastasis

Posted: October 15th, 2024, 11:00pm UTC

Conditions: Non-small Cell Lung Cancer; Leptomeningeal Metastasis; EGFR Gene Mutation
Interventions: Drug: furmonertinib
Sponsors: Henan Cancer Hospital
Not yet recruiting

TIL Therapy Combined With Pembrolizumab for Advanced Brain Cancer Including Gliomas and Meningiomas

Posted: October 14th, 2024, 11:00pm UTC

Investigating the Optimal Remifentanil and Dexmedetomidine Concentration for Uterine Fibroid Ablation

Posted: October 14th, 2024, 11:00pm UTC

Conditions: Uterine Fibroids (UF)
Interventions: Drug: arm 2; Drug: arm 1
Sponsors: Kaohsiung Medical University
Not yet recruiting

Effect of Anodal Transcranial Direct Current Stimulation on Postdural Puncture Headache

Posted: October 14th, 2024, 11:00pm UTC

Sphenopalatine Block Vs Dexmedetomidine Infusion in Trans Nasal Endoscopic Pituitary Surgery

Posted: October 14th, 2024, 11:00pm UTC

Conditions: Sphenopalatine Ganglion Nerve Block; Transnasal Endoscopic Pitutary Surgery
Interventions: Procedure: Sphenopalatine Ganglion Block; Drug: Dexmedetomidine; Other: General Anesthesia (control group)
Sponsors: Zagazig University
Not yet recruiting

Study in Patients With Breast Cancer Leptomeningeal Metastasis

Posted: October 11th, 2024, 11:00pm UTC

Conditions: Leptomeningeal Metastasis of Breast Cancer
Sponsors: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins; Avon Foundation
Not yet recruiting

Effect of Intrathecal Morphine on Quality of Recovery After Laparoscopic Colorectal Cancer Surgery

Posted: October 11th, 2024, 11:00pm UTC

Conditions: Laparoscopic Colorectal Cancer Surgery
Interventions: Procedure: Intrathecal morphine; Procedure: Intrathecal saline injection; Procedure: TAPB
Sponsors: Sun Yat-sen University
Not yet recruiting

The Relationship Between Body Mass Index and Patient Outcomes in Low Flow Anaesthesia

Posted: October 10th, 2024, 11:00pm UTC

Personalized ViscoElastic Testing-guided Bleeding Management in Liver Surgery, Neurosurgery and Obstetrics

Posted: October 10th, 2024, 11:00pm UTC

A Drug-Drug Interaction Study of Carbamazepine and Opevesostat (MK-5684) in Healthy Adult Male Participants (MK-5684-012)

Posted: October 9th, 2024, 11:00pm UTC

Conditions: Healthy; Condition Studied
Interventions: Drug: Opevesostat; Drug: Prednisone; Drug: Fludrocortisone acetate; Drug: Carbamazepine
Sponsors: Merck Sharp & Dohme LLC
Not yet recruiting

5G-EMERALD: Amivantamab in Malignant Brain Tumours

Posted: October 9th, 2024, 11:00pm UTC

Effects of Oral Administration of Antrodia Cinnamomea Products for Clinical Symptoms in Spinocerebellar Ataxia Patients

Posted: October 9th, 2024, 11:00pm UTC

A Dual-targeting Tracer TATE-RGD for the Diagnosis of SSTR- and RGD- Positive Tumors

Posted: October 9th, 2024, 11:00pm UTC

Conditions: Iodine-resistant Thyroid Cancer; Meningioma; NETs
Interventions: Drug: 68Ga-TATE-RGD; Drug: 18-FDG
Sponsors: Peking Union Medical College Hospital
Recruiting

Permalink for 'Effect of Addition of Dexmedetomidine or Ketamine to Intravenous Infusion of Lidocaine on Proinflammatory Cytokines in Pelvi-abdominal Cancer Surgeries.'

Effect of Addition of Dexmedetomidine or Ketamine to Intravenous Infusion of Lidocaine on Proinflammatory Cytokines in Pelvi-abdominal Cancer Surgeries.

Posted: October 8th, 2024, 11:00pm UTC

Conditions: Pelvic Cancer; Abdominal Cancer; Surgery; Proinflammatory Cytokines
Interventions: Drug: Lidocaine Intravenous Infusion; Drug: Lidocaine and ketamine; Drug: lidocaine and dexmedetomidine infusion
Sponsors: Alexandria University
Completed

5G-RUBY: Avutometinib and Defactinib in Malignant Brain Tumours

Posted: October 7th, 2024, 11:00pm UTC

Permalink for 'Effect of Propofol and Sevoflurane Anesthesia on HSP70 Expression in Tumor Cells. a Prospective, Single-center, Pilot, Randomized Study'

Effect of Propofol and Sevoflurane Anesthesia on HSP70 Expression in Tumor Cells. a Prospective, Single-center, Pilot, Randomized Study

Posted: October 4th, 2024, 11:00pm UTC

Conditions: Anesthesia; Cancer Recurrence; Cancer
Interventions: Drug: Propofol; Drug: Sevoflurane
Sponsors: Saint Petersburg State University, Russia; Institute of Cytology of the Russian Academy of Sciences
Not yet recruiting

AZAHAR Study To Describe Anifrolumab in a Real-World Setting

Posted: October 4th, 2024, 11:00pm UTC

Conditions: Systemic Lupus Erythematosus (SLE)
Sponsors: AstraZeneca
Not yet recruiting

Atovaquone Combined with Radiation in Children with Malignant Brain Tumors

Posted: October 3rd, 2024, 11:00pm UTC

High-dose Chemotherapy with Thiotepa, Busulfan, and Cyclophosphamide Followed by Autologous Stem Cell Transplantation in Central Nervous System Lymphoma

Posted: October 3rd, 2024, 11:00pm UTC

Conditions: Central Nervous System Lymphoma
Interventions: Drug: Thiotepa in conditioning before transplantation
Sponsors: Seoul National University Hospital
Terminated

Comparing Telehealth and In-person Assessments in Glioma Patients Receiving Oral Chemotherapy

Posted: October 3rd, 2024, 11:00pm UTC

Conditions: Astrocytoma, IDH-Mutant; Glioblastoma; Glioma; Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted
Interventions: Behavioral: Assessment; Other: Questionnaire Administration; Other: Telemedicine Visit; Drug: Temozolomide
Sponsors: Mayo Clinic
Not yet recruiting

Two Different Doses of Dexmedetomidine as Adjuvent to Bupivacaine in Tap Block

Posted: October 2nd, 2024, 11:00pm UTC

Conditions: Post Operative Pain
Interventions: Drug: Dexmedetomidine as adjuvent to bupvacaine in tap block
Sponsors: Assiut University
Not yet recruiting

Transnasal Sphenopalatine Ganglion Block for Treatment of Acute Subarachnoid Hemorrhage Associated Headache

Posted: October 1st, 2024, 11:00pm UTC

Ex Vivo Drug Response Evaluation for Next Generation Care of Brain Metastases

Posted: October 1st, 2024, 11:00pm UTC

Conditions: Brain Metastases; Brain Metastases, Adult
Interventions: Device: Pharmacoscopy 1.0; Other: Control
Sponsors: University of Zurich
Not yet recruiting

Clinico-immunological Characterization and Immune Tolerance Breakdown in CV2-autoimmunity

Posted: October 1st, 2024, 11:00pm UTC

Conditions: CV2 Autoimmunity
Interventions: Other: Description of clinical, immunological and tumor features of patients harboring CV2 Abs
Sponsors: Hospices Civils de Lyon
Active, not recruiting

Permalink for 'Is Low-load Resistance Training With Blood Flow Restriction More Effective Than Traditional Rehabilitation of Military Personnel With Lower Limb Injuries: Phase Two RCT'

Is Low-load Resistance Training With Blood Flow Restriction More Effective Than Traditional Rehabilitation of Military Personnel With Lower Limb Injuries: Phase Two RCT

Posted: October 1st, 2024, 11:00pm UTC

Conditions: Pain; Persistent Pain; Musculoskeletal Pain
Interventions: Device: BFR; Other: control group
Sponsors: Defence Medical Rehabilitation Centre, UK; Northumbria University
Not yet recruiting

Brain Irradiation for Childhood Cancer - Endocrine Monitoring During the First Years

Posted: September 30th, 2024, 11:00pm UTC

Exploring Long-term Pain Relief with 5% Dextrose Added to Local Anesthetic

Posted: September 27th, 2024, 11:00pm UTC

Conditions: Chronic Non-cancer Pain
Interventions: Drug: Addition of 1 mL of 50% dextrose solution to the usual local anesthetic solution of choice for each patient.
Sponsors: The Seekers Centre
Enrolling by invitation

Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease

Posted: September 26th, 2024, 11:00pm UTC

Conditions: GM2 Gangliosidosis; Tay Sachs Disease; Sandhoff Disease
Interventions: Drug: AXO-AAV-GM2
Sponsors: Terence Flotte
Active, not recruiting

Tumor Absorbed Dose-Response Relationship in Patients Treated With 177Lu-DOTATATE for Meningioma

Posted: September 26th, 2024, 11:00pm UTC

Conditions: Meningioma of Brain
Interventions: Diagnostic Test: tumoral dosimetry by scintigraphy
Sponsors: Central Hospital, Nancy, France
Not yet recruiting

Antirotinib Hydrochloride Plus Whole Brain Radiotherapy for Small Cell Lung Cancer With Brain Metastases

Posted: September 25th, 2024, 11:00pm UTC

Conditions: Whole Brain Radiotherapy
Interventions: Drug: Antirotinib hydrochloride
Sponsors: Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Active, not recruiting

Separation Surgery Followed by Stereotactic Ablative Body Radiotherapy (SABR) Versus SABR Alone for Spinal Metastases

Posted: September 25th, 2024, 11:00pm UTC

Conditions: Solid Tumor; Spinal Neoplasms; Spinal Tumor
Interventions: Radiation: SABR; Procedure: Separation surgery
Sponsors: Cancer Research Antwerp
Recruiting

Cardiovascular Multimodality Imaging Study

Posted: September 24th, 2024, 11:00pm UTC

BEAT-Breast: A Pilot Non-randomised Single Arm Phase 2 Trial of DE-iPTV in Patients With Primary Breast Cancer With Brain Metastases Who Are Not Suitable for Stereotactic Radiotherapy.

Posted: September 24th, 2024, 11:00pm UTC

Pharmacokinetic Interactions Between Hemay005 Tablets and Midazolam Maleate Tablets

Posted: September 24th, 2024, 11:00pm UTC

Conditions: Psoriasis
Interventions: Drug: Hemay005; Drug: Midazolam maleate
Sponsors: Ganzhou Hemay Pharmaceutical Co., Ltd
Not yet recruiting

Monitoring of Patients With Low-grade Gliomas Using Circulating miRNA

Posted: September 24th, 2024, 11:00pm UTC

Conditions: Glioma; miRNA; Low-grade Glioma; Biomarkers
Interventions: Diagnostic Test: Blood sample
Sponsors: University Hospital, Caen; RÃ©gion Normandie
Recruiting

Acromegaly Resistant to Conventional Dose of First Generation Somatostatin Ligands

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Acromegaly
Interventions: Drug: Lanreotide autogel
Sponsors: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Completed

Opioid-free Anesthesia Protocol for Neurosurgical Supratentorial Tumor Resection

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Supratentorial Tumors
Interventions: Drug: the opioid-based control group; Drug: the opioid-free anesthesia group
Sponsors: Beijing Tiantan Hospital
Not yet recruiting

The Application of Pectoral Nerve II(PECS II)block in Breast Fibroadenoma Resection Surgery

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Breast Neoplasms
Interventions: Drug: nerve block with 0.5% ropivacaine
Sponsors: Inner Mongolia Baogang Hospital
Completed

Loncastuximab Tesirine and Rituximab Following Stereotactic Radiosurgery (SRS) in Patients With Primary and Secondary Central Nervous System Lymphomas (Lonca-R After SRS in CNSL)

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Central Nervous System Lymphoma
Interventions: Drug: Loncastuximab tesirine and rituximab (Lonca-R)
Sponsors: University of Utah; ADC Therapeutics S.A.
Not yet recruiting

Study Investigating the Safety, Tolerability and Blood Concentration of the Substance SR-878

Posted: September 23rd, 2024, 11:00pm UTC

Conditions: Healthy Volunteers
Interventions: Drug: SR-878; Drug: Placebo
Sponsors: SciRhom GmbH
Not yet recruiting

Ketamine, SGB and Combination Treatment for TBI

Posted: September 23rd, 2024, 11:00pm UTC

Development and Validation of the FBIndex to Determine the Risk of Falls for Patients with Neuromuscular Disorders

Posted: September 20th, 2024, 11:00pm UTC

AI-guided Prognostication and Cranial Radiotherapy Optimization in EGFR-TKI-treated Non-small Cell Lung Cancer Patients With Baseline Brain Metastases

Posted: September 19th, 2024, 11:00pm UTC

A Single-arm, Prospective Phase â…¡ Clinical Study of Utidelone Combined with Capecitabine in the Treatment of Active Brain Metastasis of TNBC

Posted: September 19th, 2024, 11:00pm UTC

Conditions: Metastatic Breast Cancer
Interventions: Drug: Utidelone and capecitabine
Sponsors: Henan Cancer Hospital
Recruiting

The Effect of Rituximab on Cognitive and Hand Functions in Secondary Progressive Multiple Sclerosis

Posted: September 19th, 2024, 11:00pm UTC

Conditions: Secondary Progressive Multiple Sclerosis (SPMS)
Interventions: Drug: Rituximab; Other: Saline (NaCl 0,9 %) (placebo)
Sponsors: Cairo University
Recruiting

Exploring Nasal Drop Therapy With Small Extracellular Vesicles for ALS

Posted: September 19th, 2024, 11:00pm UTC

Conditions: Amyotrophic Lateral Sclerosis
Interventions: Drug: exosomes derived from human umbilical cord blood mesenchymal stem cells for nasal drop; Drug: a placebo of exosomes derived from human umbilical cord blood mesenchymal stem cells for nasal drop
Sponsors: Xuanwu Hospital, Beijing; Shengqi Medical Technology (Guangzhou) Co., Ltd.; Viyun (Xiamen) Biomedical Research Institute Co., Ltd.
Recruiting

Irradiation in Paediatrics: Neurocognition, Neuroimaging and Evaluation of Memory and Attention

Posted: September 19th, 2024, 11:00pm UTC

Conditions: Brain Tumor, Pediatric
Interventions: Other: Neuropsychological assessments:
Sponsors: Institut Claudius Regaud
Not yet recruiting

To Compare the Consumption of Sevoflurane and Desflurane in Low Flow Anaesthesia

Posted: September 19th, 2024, 11:00pm UTC

Conditions: Sevoflurane; Desflurane
Interventions: Other: Low flow anaesthesia using ASA enviormental sustanibility commitee recomendation
Sponsors: Rajiv Gandhi Cancer Institute & Research Center, India
Completed

Comparison Between Epidural Analgesia and Intrathecal Opioid Analgesia for Pain Management in Open Nephrectomy

Posted: September 13th, 2024, 11:00pm UTC

Conditions: Pain; Renal Cancer; Surgical Procedure, Unspecified
Interventions: Procedure: Epidural analgesia; Procedure: Intrathecal opioid analgesia
Sponsors: University Hospital of Split
Not yet recruiting

Permalink for 'Molecular Subtype-Guided R-CHOP-MTXÂ±Zanubrutinib Treatment in Newly Diagnosed DLBCL Patients with Central Nervous System Involvement'

Molecular Subtype-Guided R-CHOP-MTXÂ±Zanubrutinib Treatment in Newly Diagnosed DLBCL Patients with Central Nervous System Involvement

Posted: September 13th, 2024, 11:00pm UTC

Conditions: Diffuse Large B Cell Lymphoma (DLBCL)
Interventions: Drug: R-CHOP+Z+MTX; Drug: R-CHOP+MTX
Sponsors: The First Affiliated Hospital with Nanjing Medical University
Not yet recruiting

Fluid Responsiveness in Posterior Fossa Tumor Resection: PPV and CVP Guidance

Posted: September 13th, 2024, 11:00pm UTC

Observational Study on Characteristics and Survival Correlates of Progressive Multifocal Leukoencephalopathy (PML) in Italy

Posted: September 13th, 2024, 11:00pm UTC

Conditions: Progressive Multifocal Leukoencephalopathy; PML
Sponsors: Scientific Institute San Raffaele
Completed

Permalink for 'Intrathecal Morphine Versus Intravenous Methadone for Postoperative Analgesia Following Retroperitoneal Lymph Node Dissection.'

Intrathecal Morphine Versus Intravenous Methadone for Postoperative Analgesia Following Retroperitoneal Lymph Node Dissection.

Posted: September 12th, 2024, 11:00pm UTC

Conditions: Testicular Cancer
Interventions: Other: Inrathecal Morphine; Other: Intravenous Methadone
Sponsors: Indiana University
Not yet recruiting

Clinical Study of QH104 Cell Injection for the Treatment of Meningeal Metastases of B7H3+ Solid Tumors

Posted: September 11th, 2024, 11:00pm UTC

Conditions: Solid Tumor; Meningeal Metastasis
Interventions: Biological: QH104 Cell injection
Sponsors: Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Recruiting

Olanzapine 2.5 Vs 5 Mg in Quadruplet Nausea/Vomiting Prophylaxis Before High-Dose Melphalan

Posted: September 9th, 2024, 11:00pm UTC

Conditions: Multiple Myeloma; Autologous Stem Cell Transplantation
Interventions: Drug: Olanzapine
Sponsors: Augusta University
Not yet recruiting

Permalink for 'Exploring the Clinical Impact of MYC Aberrations and Their Relationship with Microenvironment in Diffuse Large B Cell Lymphoma and High-Grade C Cell Lymphoma'

Exploring the Clinical Impact of MYC Aberrations and Their Relationship with Microenvironment in Diffuse Large B Cell Lymphoma and High-Grade C Cell Lymphoma

Posted: September 9th, 2024, 11:00pm UTC

Conditions: Diffuse Large B Cell Lymphoma; High-grade B-cell Lymphoma; High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements
Sponsors: Fondazione Italiana Linfomi - ETS
Not yet recruiting

A Real-world Study to Assess the Use of Siponimod in Spain to Treat Patients With Secondary Progressive Multiple Sclerosis

Posted: September 9th, 2024, 11:00pm UTC

Conditions: Secondary Progressive Multiple Sclerosis
Sponsors: Novartis
Completed

Delineation of Target Volume of Stereotactic Radiotherapy for Spinal Tumors

Posted: September 6th, 2024, 11:00pm UTC

Conditions: Spinal Tumor
Interventions: Radiation: Target volume delineation
Sponsors: Peking University Third Hospital
Recruiting

JK-1201I in Triple Negative Breast Cancer Patients with Brain Metastases

Posted: September 6th, 2024, 11:00pm UTC

Conditions: Triple Negative Breast Cancer (TNBC); Brain Metastasases
Interventions: Drug: JK-1201I
Sponsors: JenKem Technology Co., Ltd.
Not yet recruiting

Molecular Pituitary Imaging Using 18F-FET PET

Posted: September 4th, 2024, 11:00pm UTC

Quest to Analyze One Thousand Humans Meditating

Posted: September 4th, 2024, 11:00pm UTC

Emulation of the Moderate Alcohol and Cardiovascular Health Trial (MACH15)

Posted: September 3rd, 2024, 11:00pm UTC

Elimination of PTV Margins Based on MRI-guided Adaptive Stereotactic Radiotherapy for Non-small Cell Lung Cancer With Brain Metastasis

Posted: September 2nd, 2024, 11:00pm UTC

Enhanced Assistance During Radiotherapy for Unmet Essential Needs

Posted: September 2nd, 2024, 11:00pm UTC

Rectus Sheath Block for Analgesia After Gynecological Laparotomy

Posted: August 28th, 2024, 11:00pm UTC

Conditions: Gynecologic Surgical Procedures
Interventions: Procedure: Rectus sheath block; Procedure: Thoracic Epidural Analgesia; Drug: Liposomal bupivacaine; Drug: Bupivacaine Hydrochloride; Drug: Bupivacaine-Hydromorphone Cassette
Sponsors: Duke University
Not yet recruiting

Using the Chemical Modifications Present on RNA Molecules to Diagnose and Treat Brain Cancer

Posted: August 28th, 2024, 11:00pm UTC

A Study of MK-1084 With Midazolam and Digoxin in Healthy Participants (MK-1084-009)

Posted: August 28th, 2024, 11:00pm UTC

Conditions: Non-small Cell Lung Cancer
Interventions: Drug: MK-1084; Drug: Midazolam; Drug: Digoxin
Sponsors: Merck Sharp & Dohme LLC
Active, not recruiting

Post-mastectomy Recovery: Comparing Preoperative PECS-II Blocks With Intraoperative Pectoral Blocks

Posted: August 27th, 2024, 11:00pm UTC

Conditions: Mastectomy; Lymphedema; Breast Cancer
Interventions: Drug: Bupivacain; Drug: Exparel; Procedure: Intraoperative Pecs II block (IOB) & superior AT (EX or BP); Procedure: Preoperative Pecs II block (POB) & superior AT (EX or BP)
Sponsors: University of Cincinnati
Not yet recruiting

USPIO Enhanced MR Imaging in CNS Tumours (UMIC)

Posted: August 27th, 2024, 11:00pm UTC

Conditions: Vestibular Schwannoma; Glioma, Astrocytic
Interventions: Diagnostic Test: USPIO enhanced MRI
Sponsors: Northern Care Alliance NHS Foundation Trust
Recruiting

Institutional Registry of Rare Diseases

Posted: August 27th, 2024, 11:00pm UTC

Better Options for Chronic Cancer Pain

Posted: August 27th, 2024, 11:00pm UTC

Conditions: Chronic Pain; Cancer Survivor; Opioid Dependence
Interventions: Behavioral: Multimodal pain care; Drug: Medication optimization; Device: Buprenorphine rotation; Other: Opioid tapering
Sponsors: VA Office of Research and Development
Not yet recruiting

Study Of Comparing SAF-189s With Crizotinib In First Line ALK-Positive Advanced and Metastatic NSCLC

Posted: August 26th, 2024, 11:00pm UTC

Conditions: Non-Small Cell Lung Cancer; ALK-positive; SAF-189s
Interventions: Other: Drug: Foritinib Succinate; Other: Drug: Crizotinib
Sponsors: Shanghai Fosun Pharmaceutical Industrial Development Co. Ltd.
Active, not recruiting

Permalink for 'Analgesic Efficacy of an Opioid-free Postoperative Pain Management Strategy Versus a Conventional Opioid-based Strategy Following Video-assisted Thoracoscopic Lobectomy'

Analgesic Efficacy of an Opioid-free Postoperative Pain Management Strategy Versus a Conventional Opioid-based Strategy Following Video-assisted Thoracoscopic Lobectomy

Posted: August 26th, 2024, 11:00pm UTC

Conditions: Postoperative Pain
Interventions: Drug: Ropivacaine; Drug: Sufentanil
Sponsors: Affiliated Cancer Hospital & Institute of Guangzhou Medical University
Not yet recruiting

Use of a Cannabinoids as a Treatment Strategy for Alzheimer's Disease

Posted: August 26th, 2024, 11:00pm UTC

Conditions: Alzheimer Disease
Interventions: Other: Cannabis; Other: Placebo
Sponsors: Federal University of Latin American Integration
Recruiting

JWCAR201 for the Treatment of Hematology Malignancy and Autoimmune Diseases

Posted: August 22nd, 2024, 11:00pm UTC

Conditions: B-cell Tumors; Autoimmune Diseases; Lupus Erythematosus, Systemic; Large B-cell Lymphoma
Interventions: Biological: JWCAR201
Sponsors: RenJi Hospital; Shanghai Ming Ju Biotechnology Co., Ltd.
Not yet recruiting

Study of Autologous Tumor-Infiltrating Lymphocytes in Pediatric, Adolescent, and Young Adult Participants

Posted: August 22nd, 2024, 11:00pm UTC

Conditions: Soft Tissue Sarcoma; Primary Central Nervous System Carcinoma; Melanoma; Rhabdomyosarcoma; Ewing Sarcoma
Interventions: Biological: LN-145/LN-144
Sponsors: Iovance Biotherapeutics, Inc.
Recruiting

A Real-World Comparative Study of Donanemab (LY3002813) Plus Usual Care Versus Usual Care Alone in US Participants With Early Symptomatic Alzheimer's Disease

Posted: August 22nd, 2024, 11:00pm UTC

Conditions: Alzheimer Disease
Interventions: Drug: Donanemab; Drug: Usual Care
Sponsors: Eli Lilly and Company
Not yet recruiting

Study of FIH of STX-241 in Locally Advanced or Metastatic NSCLC Resistant to EGFR TKIs

Posted: August 22nd, 2024, 11:00pm UTC

Conditions: Non-small Cell Lung Cancer (NSCLC)
Interventions: Drug: STX-241
Sponsors: Pierre Fabre Medicament
Recruiting

Honokiol in Early-Stage Resectable Non-Small Cell Lung Cancer

Posted: August 22nd, 2024, 11:00pm UTC

Conditions: Carcinoma, Non-Small-Cell Lung
Interventions: Drug: Honokiol
Sponsors: The Methodist Hospital Research Institute
Not yet recruiting

Permalink for 'A Phase III Study Comparing Taletrectinib With Standard Therapy in ROS1 Positive Locally Advanced or Metastatic Non-small Cell Lung Cancer Patients'

A Phase III Study Comparing Taletrectinib With Standard Therapy in ROS1 Positive Locally Advanced or Metastatic Non-small Cell Lung Cancer Patients

Posted: August 21st, 2024, 11:00pm UTC

Conditions: Non Small Cell Lung Cancer
Interventions: Drug: Taletrectinib; Drug: Crizotinib
Sponsors: AnHeart Therapeutics Inc.
Not yet recruiting

The Safety and Efficacy of Rapamycin on Communicating Hydrocephalus Secondary to Intraventricular Hemorrhage

Posted: August 21st, 2024, 11:00pm UTC

Permalink for 'A Prospective, Open-label, Randomized Controlled, Multicenter Clinical Study of MSD-HSCT Using a TBI or TMLI Conditioning Regimen for Pediatric ALL'

A Prospective, Open-label, Randomized Controlled, Multicenter Clinical Study of MSD-HSCT Using a TBI or TMLI Conditioning Regimen for Pediatric ALL

Posted: August 21st, 2024, 11:00pm UTC

Conditions: Acute Lymphoblastic Leukemia, Pediatric
Interventions: Radiation: TBI; Radiation: TMLI; Drug: Cyclophosphamide
Sponsors: The First Affiliated Hospital of Zhengzhou University
Not yet recruiting

Permalink for 'A Prospective, Open-label, Randomized Controlled, Multicenter Clinical Study of Haplo-HSCT Using a TBI or TMLI Conditioning Regimen for Adult ALL'

A Prospective, Open-label, Randomized Controlled, Multicenter Clinical Study of Haplo-HSCT Using a TBI or TMLI Conditioning Regimen for Adult ALL

Posted: August 21st, 2024, 11:00pm UTC

Conditions: Acute Lymphoblastic Leukemia, Adult
Interventions: Radiation: TBI; Radiation: TMLI; Drug: Cyclophosphamide
Sponsors: The First Affiliated Hospital of Zhengzhou University
Not yet recruiting

A Study Evaluating the Safety and Efficacy of GLPG5101 (19CP02) in Participants With Non-Hodgkin Lymphoma

Posted: August 20th, 2024, 11:00pm UTC

Conditions: Relapsed/Refractory B-cell Non-Hodgkin Lymphoma; Lymphomas Non-Hodgkin's B-cell
Interventions: Genetic: GLPG5101
Sponsors: Galapagos NV
Recruiting

Comparison Between Different Ways for Using Lidocaine During FB

Posted: August 20th, 2024, 11:00pm UTC

Conditions: Lidocaine Spray; Nebulized Lidocaine; Lung Diseases; Lung Cancer
Interventions: Procedure: Nebulized lidocaine; Procedure: Lidocaine spray; Procedure: Combination of nebulized lidocaine and lidocaine spray
Sponsors: Assiut University
Not yet recruiting

Magnesium Sulfate in Children Undergoing Laparoscopic Appendectomy

Posted: August 20th, 2024, 11:00pm UTC

Conditions: Opioid Consumption; Multimodal Analgesia; Acute Appendicitis; Complication of Treatment
Interventions: Drug: Intravenous magnesium sulfate; Drug: Normal saline infusion
Sponsors: Medical University of Warsaw
Not yet recruiting

Evaluation of Postoperative Intracranial Pressure in Patients Undergoing Intracranial Tumor Surgery

Posted: August 19th, 2024, 11:00pm UTC

A Prospective, Open-label, Randomized Controlled, Multicenter Clinical Study of Haplo-HSCT Using a TBI or TMLI Conditioning Regimen for Pediatric ALL

Posted: August 19th, 2024, 11:00pm UTC

Conditions: Acute Lymphoblastic Leukemia, Pediatric
Interventions: Radiation: TMLI; Radiation: TBI; Drug: Cyclophosphamide
Sponsors: The First Affiliated Hospital of Zhengzhou University
Not yet recruiting

Carotid Artery Stenosis and Ischemic Cerebrovascular Events After Radiotherapy in Patients With Head and Neck Cancer

Posted: August 16th, 2024, 11:00pm UTC

Study on Prevalence and Impact of Brain Metastases on Survival in Lung Cancer by Line of Treatment

Posted: August 16th, 2024, 11:00pm UTC

$Permalink for 'Adjuvant Hypofractionated Stereotactic Radiosurgery for Intermediate-risk Meningioma'$

Adjuvant Hypofractionated Stereotactic Radiosurgery for Intermediate-risk Meningioma

Posted: August 16th, 2024, 11:00pm UTC

Hippocampus-Avoidance Whole-Brain Radiation Therapy With Simultaneous Integrated Boost for BMs of NSCLC

Posted: August 16th, 2024, 11:00pm UTC

A Prospective, Open-label, Randomized Controlled, Multicenter Clinical Study of MSD-HSCT Using a TBI or TMLI Conditioning Regimen for Adult ALL

Posted: August 16th, 2024, 11:00pm UTC

Effects of HIIT on Bone Metabolism in Individuals With Chronic Stroke

Posted: August 15th, 2024, 11:00pm UTC

Merck Belzutifan PAS

Posted: August 15th, 2024, 11:00pm UTC

Conditions: Von Hippel Lindau Disease; Renal Cell Carcinoma
Interventions: Other: Merck Belzutifan PAS in adult patients
Sponsors: M.D. Anderson Cancer Center; Merck Sharp & Dohme LLC
Not yet recruiting

Surgical and Pharmacological Efficacy of Knosp Grade 0-2 Prolactinoma

Posted: August 15th, 2024, 11:00pm UTC

Olanzapine Impact on First-line Immunotherapy for Advanced EGFR-negative NSCLC

Posted: August 15th, 2024, 11:00pm UTC

Conditions: Non-Small Cell Lung Cancer
Interventions: Drug: Olanzapine; Drug: Nivolumab
Sponsors: Second Affiliated Hospital of Nanchang University
Not yet recruiting

$Permalink for 'A Study of Selinexor in Combination With Temozolomide and Anti-PD-1 Antibody in Patients With Relapsed/Refractory Primary Central Nervous System Lymphoma'$

A Study of Selinexor in Combination With Temozolomide and Anti-PD-1 Antibody in Patients With Relapsed/Refractory Primary Central Nervous System Lymphoma

Posted: August 15th, 2024, 11:00pm UTC

Conditions: Relapsed/Refractory Primary Central Nervous System Lymphoma
Interventions: Drug: Selinexor; Drug: Temozolomide; Drug: Anti-PD-1 monoclonal antibody
Sponsors: Second Affiliated Hospital, School of Medicine, Zhejiang University
Recruiting

Permalink for 'A Study of Pomadomide in Combination With Rituximab and Methotrexate for Newly-diagnosed Primary Central Nervous System Lymphoma'

A Study of Pomadomide in Combination With Rituximab and Methotrexate for Newly-diagnosed Primary Central Nervous System Lymphoma

Posted: August 15th, 2024, 11:00pm UTC

Conditions: PCNSL
Interventions: Drug: Pomalidomide; Drug: Rituximab; Drug: Methotrexate
Sponsors: Second Affiliated Hospital, School of Medicine, Zhejiang University
Recruiting

Brain Metastatic Prostate Adenocarcinoma: Avoiding Mistaken Identities

Fetched: October 16th, 2024, 2:01am UTC by James A Knight

Cureus. 2024 Sep 12;16(9):e69282. doi: 10.7759/cureus.69282. eCollection 2024 Sep.

ABSTRACT

PMID:39398808 | PMC:PMC11470835 | DOI:10.7759/cureus.69282

LONG-TERM NATURAL HISTORY OF GIANT NULL CELL PITUITARY ADENOMA

Fetched: October 16th, 2024, 2:01am UTC by O Ukrainets

Exp Oncol. 2024 Oct 9;46(2):165-173. doi: 10.15407/exp-oncology.2024.02.165.

ABSTRACT

PMID:39396167 | DOI:10.15407/exp-oncology.2024.02.165

Letter to the Editor: Fincher syndrome: Insights into a rare neurosurgical condition

Fetched: October 16th, 2024, 2:01am UTC by Yovan Raja Pravin

Neurosurg Rev. 2024 Oct 11;47(1):779. doi: 10.1007/s10143-024-03033-4.

ABSTRACT

Fincher syndrome is an exceptionally rare neurological problem which is characterized by simultaneous occurrence of spinal cord tumor and spinal subarachnoid hemorrhage. The article "Fincher syndrome: insights into a rare neurosurgical condition" explains about the pathophysiology, disease diagnosis, and possible treatment procedures of Fincher syndrome. Deep understanding about the syndrome will be useful to physicians and researchers for prompt detection and timely intervention of this rare condition.

PMID:39390207 | DOI:10.1007/s10143-024-03033-4

Clinicopathological, immunohistochemical and therapeutic approaches on survival in patients with epithelioid glioblastoma: Institutional experience in the management of 58 patients

Fetched: October 16th, 2024, 2:01am UTC by Meng-Nan Sun

Neurosurg Rev. 2024 Oct 9;47(1):763. doi: 10.1007/s10143-024-02957-1.

ABSTRACT

PMID:39382734 | PMC:PMC11464587 | DOI:10.1007/s10143-024-02957-1

Unusual association of cervical arachnoid cyst and idiopathic intracranial hypertension

Fetched: October 16th, 2024, 2:01am UTC by Shirin H Alokayli

Neurosciences (Riyadh). 2024 Oct;29(4):284-287. doi: 10.17712/nsj.2024.4.20240005.

ABSTRACT

Arachnoid cysts (ACs) are more commonly seen intracranially rather than intraspinally, with most being asymptomatic. This case report presents a rare association between symptomatic AC and idiopathic intracranial hypertension (IIH). In a 71-year-old man who exhibited long-standing bilateral shoulder pain and severe left brachialgia despite an unremarkable physical examination. Radiologic investigations revealed a left C5-6 cervical arachnoid cyst, and during treatment, the patient was diagnosed with IIH. Surgical excision of the cyst failed, so the patient was treated with a lumbar puncture (LP) shunt that required several revisions. During these revisions, IIH was diagnosed, leading to the insertion of a ventriculoperitoneal (VP) shunt, which improved the symptoms. Early diagnosis of IIH through lumbar puncture in cases of spinal arachnoid cysts allows for earlier treatment with cerebrospinal fluid (CSF) diversion via a VP shunt, reducing repeated hospital admissions and surgical interventions.

PMID:39379080 | PMC:PMC11460788 | DOI:10.17712/nsj.2024.4.20240005

Challenges in the Management of Recurrent CNS Solitary Fibrous Tumors: A Case Report

Fetched: October 16th, 2024, 2:01am UTC by Gaurav Bector

Cureus. 2024 Sep 4;16(9):e68661. doi: 10.7759/cureus.68661. eCollection 2024 Sep.

ABSTRACT

Solitary fibrous tumors (SFTs) of the central nervous system (CNS) are rare mesenchymal neoplasms with diverse histological characteristics ranging from benign to malignant. Their higher chance for metastasis and recurrence poses significant diagnostic and therapeutic challenges. In this study, we present a 53-year-old female with a recurrent SFT of the cervical spine that was diagnosed initially 12 years ago. The patient underwent repeated surgical resections including laminectomy and gamma knife radiosurgery, as well as temozolomide, bevacizumab, and pazopanib therapy. Despite these interventions, she experienced continuous disease progression, with the cancer spreading to vital CNS locations. This study demonstrates the locally invasive nature of CNS SFTs and their complicated treatments involving surgical excision, radiotherapy, and systemic chemotherapy. This study highlights the need for new therapeutic approaches, as the existing methods fall short in meeting all the requirements and continue to lag in targeted therapy research for CNS SFTs. Consequently, it is important to develop individualized treatment strategies for patients affected by such difficult conditions.

PMID:39371806 | PMC:PMC11452023 | DOI:10.7759/cureus.68661

Proton beam therapy in a patient with secondary glioblastoma (32 years after postoperative irradiation of medulloblastoma): case report and literature review

Fetched: October 16th, 2024, 2:01am UTC by Bai Jiwei

Radiat Oncol. 2024 Oct 5;19(1):136. doi: 10.1186/s13014-024-02515-5.

ABSTRACT

OBJECTIVE: This report details the experience of a patient who developed a second primary glioblastoma (GB), offering insights into the treatment process and reviewing relevant literature.

PMID:39369243 | PMC:PMC11453085 | DOI:10.1186/s13014-024-02515-5

Benign extracranial meningioma with pulmonary metastasis: a case report and review of literature

Fetched: October 16th, 2024, 2:01am UTC by Jianing Cui

J Med Case Rep. 2024 Oct 5;18(1):461. doi: 10.1186/s13256-024-04800-z.

ABSTRACT

BACKGROUND: Meningiomas are common central nervous system tumors, predominantly intracranial, they rarely develop extracranially. Moreover, benign meningiomas seldom metastasize.

CASE PRESENTATION: This article presents a case report of a 55-year-old Chinese male patient with a primary World Health Organization grade 1 meningioma originating from the petrous apex of the temporal bone, accompanied by pulmonary metastasis. Following two incomplete resections of the primary tumor, the patient underwent radiotherapy and has since maintained a stable condition.

CONCLUSION: The case report highlights the rare occurrence of pulmonary metastasis in a benign World Health Organization grade 1 meningioma originating from an extracranial site. It also illustrates the important role of radiotherapy in treating patients with meningioma. Additionally, a review of related literature is provided to gain insights for the diagnosis and treatment of the disease.

PMID:39367495 | PMC:PMC11452947 | DOI:10.1186/s13256-024-04800-z

Drug-resistant schizophrenia-like psychosis associated with temporal non-anaplastic pleomorphic xanthoastrocytoma: unusual revealing symptom of a rare pathology

Fetched: October 16th, 2024, 2:01am UTC by Mehdi Borni

Ann Med Surg (Lond). 2024 Aug 22;86(10):6208-6214. doi: 10.1097/MS9.0000000000002484. eCollection 2024 Oct.

ABSTRACT

PMID:39359786 | PMC:PMC11444643 | DOI:10.1097/MS9.0000000000002484

Nasal immature teratoma in an elderly patient: Clinicopathological and epigenetic analogies with central nervous system counterparts, alongside genomic divergences

Fetched: October 16th, 2024, 2:01am UTC by Shintaro Inoue

Neuropathology. 2024 Oct 2. doi: 10.1111/neup.13008. Online ahead of print.

ABSTRACT

PMID:39359021 | DOI:10.1111/neup.13008

Re-irradiation of anaplastic meningioma: higher dose and concomitant Bevacizumab may improve progression-free survival

Fetched: October 16th, 2024, 2:01am UTC by Ory Haisraely

Radiat Oncol. 2024 Oct 2;19(1):135. doi: 10.1186/s13014-024-02486-7.

ABSTRACT

INTRODUCTION: Anaplastic meningiomas, categorized as WHO grade 3 tumors, are rare and highly aggressive, accounting for 1-2% of all meningioma cases. Despite aggressive treatment, including surgery and Radiation, they exhibit a high recurrence rate and poor survival outcomes. The aggressive histopathological features emphasize the urgent need for effective management strategies.

METHODS: A retrospective multi-institutional analysis was conducted on patients with recurrent anaplastic meningioma who underwent re-irradiation between 2017 and 2023. Clinical, dosimetric, and outcome data were collected and analyzed, focusing on local control, progression free survival and treatment-related adverse events.

RESULTS: Thirty-four cases were analyzed, with a median follow-up 11 months after re-irradiation. Progression-free survival at 12 months was 61.9%, with higher doses correlating with better outcomes. Concomitant Bevacizumab improves progression-free survival and reduces the risk of radiation necrosis. CDKN2A homozygote deletion correlated with a higher risk of local failure. Symptomatic radiation necrosis occurred in 20.5% of cases, but its incidence was lower with concomitant Bevacizumab treatment.

CONCLUSION: Re-irradiation presents a viable option for recurrent anaplastic meningioma despite the associated risk of radiation necrosis. Higher doses with concomitant Bevacizumab improve clinical outcomes and reduce toxicity. Individualized treatment approaches are necessary, emphasizing the importance of further research to refine management strategies for this challenging disease.

PMID:39358739 | PMC:PMC11447990 | DOI:10.1186/s13014-024-02486-7

Distinction of papillary and adamantinomatous craniopharyngioma: Clinical features, surgical nuances and hypothalamic outcomes

Fetched: October 16th, 2024, 2:01am UTC by Le Yang

Neoplasia. 2024 Nov;57:101060. doi: 10.1016/j.neo.2024.101060. Epub 2024 Oct 1.

ABSTRACT

PMID:39357265 | DOI:10.1016/j.neo.2024.101060

Stereotactic radiosurgery for recurrent/residual nonfunctioning pituitary adenoma: a single-arm systematic review and meta-analysis

Fetched: October 16th, 2024, 2:01am UTC by Fernando De Nigris Vasconcellos

Acta Neurochir (Wien). 2024 Oct 2;166(1):392. doi: 10.1007/s00701-024-06296-4.

ABSTRACT

PMID:39356336 | DOI:10.1007/s00701-024-06296-4

Lipochoristoma: a rare cause of unilateral hearing loss

Fetched: October 16th, 2024, 2:01am UTC by Krupali Brahmbhatt

BMJ Case Rep. 2024 Oct 1;17(10):e259086. doi: 10.1136/bcr-2023-259086.

ABSTRACT

We present our single-centre experience of two cases of lipochoristoma, a rare lesion causing unilateral hearing loss. Differential diagnoses include the more common vestibular schwannoma, haemangioma and meningioma. Diagnosis was confirmed with fat suppression sequences on MRI. Management of both patients was with serial imaging, under the guidance of neuro-otology multidisciplinary team, due to the slow and typically non-aggressive progression of this lesion.

PMID:39353668 | DOI:10.1136/bcr-2023-259086

Metastatic prostate adenocarcinoma to the brain - a clinicopathologic analysis of 21 cases

Fetched: October 16th, 2024, 2:01am UTC by Namra Ajmal

Diagn Pathol. 2024 Oct 1;19(1):132. doi: 10.1186/s13000-024-01554-6.

ABSTRACT

PMID:39354583 | PMC:PMC11443825 | DOI:10.1186/s13000-024-01554-6

Targeted radionuclide therapy for patients with CNS metastasis: overlooked potential?

Fetched: October 16th, 2024, 2:01am UTC by Emilie Le Rhun

Neuro Oncol. 2024 Oct 1:noae192. doi: 10.1093/neuonc/noae192. Online ahead of print.

ABSTRACT

PMID:39351771 | DOI:10.1093/neuonc/noae192

Feasibility of Circulating Tumor DNA Detection in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement in Large B-Cell Lymphoma

Fetched: October 16th, 2024, 2:01am UTC by Seok Jin Kim

Ann Lab Med. 2024 Sep 30. doi: 10.3343/alm.2024.0257. Online ahead of print.

ABSTRACT

PMID:39344147 | DOI:10.3343/alm.2024.0257

Characterizing second line and beyond therapies for primary central nervous system lymphomas

Fetched: October 16th, 2024, 2:01am UTC by Brian Primeaux

Hematol Oncol. 2024 Nov;42(6):e3313. doi: 10.1002/hon.3313.

ABSTRACT

PMID:39340121 | DOI:10.1002/hon.3313

Superior prognostic accuracy of FIGO staging system in primary female genital tract lymphomas: A retrospective study (IELSG35)

Fetched: October 16th, 2024, 2:01am UTC by Maria Cristina Pirosa

Hematol Oncol. 2024 Nov;42(6):e3312. doi: 10.1002/hon.3312.

ABSTRACT

Primary lymphoma of the female genital tract (PLFGT) is a rare type of extranodal lymphoma. In this retrospective study from the International Extranodal Lymphoma Study Group, we analyzed clinical data from 60 women diagnosed with PLFGT between 1982 and 2012. The median age was 52 years. Limited stage, as defined by the Ann Arbor and FIGO staging systems, was observed in 55% and 63% of cases, respectively. The uterus was the primary site of lymphoma in 25 cases, with the ovaries as the second most common site (n = 24). The most common histological subtype was diffuse large B-cell lymphoma (DLBCL, n = 44), followed by follicular lymphoma and marginal zone lymphoma (6 patients each). Two patients received surgery alone as first-line therapy, while 58 underwent systemic therapy, 16 following major surgery. Thirteen patients received consolidation radiotherapy and six were given central nervous system (CNS) prophylaxis. Twenty patients had disease progression or recurrence. Six patients with DLBCL (14%) experienced CNS relapse, which was the only site of recurrence in five of them. All but one patient with CNS relapse had primary ovarian involvement, and three had bulky disease; none of these patients had received CNS prophylaxis. With a median follow-up of 60 months, the median overall survival of the DLBCL cohort was approximately 13 years, with a 5-year survival rate of 77%. In multivariable analysis, advanced disease according to the FIGO system was the only parameter significantly associated with shorter overall, cause-specific, and progression-free survival in patients with DLBCL.

PMID:39325987 | DOI:10.1002/hon.3312

Primary Central Nervous System Burkitt's Lymphoma in a Pediatric Patient: A Case Report and Literature Review

Fetched: October 16th, 2024, 2:01am UTC by Jian Zhao

J Pediatr Hematol Oncol. 2024 Oct 1;46(7):375-379. doi: 10.1097/MPH.0000000000002944. Epub 2024 Sep 26.

ABSTRACT

OBJECTIVE: The objective of this research is to examine the therapy and outlook of pediatric primary central nervous system Burkitt lymphomas.

PMID:39324884 | DOI:10.1097/MPH.0000000000002944

Giant cerebral tuberculoma mimicking tumor in a pediatric patient: A case report

Fetched: October 16th, 2024, 2:01am UTC by Muhamad Aufa Ni'ami

Radiol Case Rep. 2024 Sep 17;19(12):5908-5915. doi: 10.1016/j.radcr.2024.08.083. eCollection 2024 Dec.

ABSTRACT

PMID:39319173 | PMC:PMC11421474 | DOI:10.1016/j.radcr.2024.08.083

Permalink for 'Comment on, "Decoding pediatric spinal tumors: a single-center retrospective case series on etiology, presentation, therapeutic strategies, and outcomes"'

Comment on, "Decoding pediatric spinal tumors: a single-center retrospective case series on etiology, presentation, therapeutic strategies, and outcomes"

Fetched: October 16th, 2024, 2:01am UTC by Hethesh Chellapandian

Neurosurg Rev. 2024 Sep 25;47(1):677. doi: 10.1007/s10143-024-02915-x.

ABSTRACT

The article "Decoding pediatric spinal tumors: a single-center retrospective case series on etiology, presentation, therapeutic strategies, and outcomes" by Lenga et al. (2024) provides essential insights into pediatric spinal tumors, a rare and challenging area of medical research. The authors present a thorough analysis of clinical presentations, treatment strategies, and patient outcomes, offering valuable data to refine therapeutic approaches and improve outcomes. However, the study's retrospective design, confined to a single center, introduces potential biases and limits the generalizability of findings. The lack of long-term follow-up data and a control group further restricts the study's scope. Future research should prioritize multi-center collaborations, incorporate control groups, and extend follow-up durations to better understand long-term outcomes. The establishment of standardized treatment protocols is also recommended to enhance consistency in managing pediatric spinal tumors across diverse clinical settings.

PMID:39317791 | DOI:10.1007/s10143-024-02915-x

Sequencing of Checkpoint or BRAF/MEK Inhibitors on Brain Metastases in Melanoma

Fetched: October 16th, 2024, 2:01am UTC by Paolo A Ascierto

NEJM Evid. 2024 Oct;3(10):EVIDoa2400087. doi: 10.1056/EVIDoa2400087. Epub 2024 Sep 24.

ABSTRACT

PMID:39315864 | DOI:10.1056/EVIDoa2400087

Case report: Multi-antibody-positive myasthenia gravis concomitant myositis associated with thymoma

Fetched: October 16th, 2024, 2:01am UTC by Chao Huang

Front Immunol. 2024 Sep 5;15:1423547. doi: 10.3389/fimmu.2024.1423547. eCollection 2024.

ABSTRACT

Myasthenia gravis (MG) and idiopathic inflammatory myopathy (IIM) are autoimmune diseases of the nervous system, and their main clinical manifestation is muscle weakness. The concurrent presence of both conditions in the same patient is clinically rare and easily missed. Here, we report the case of a 74-year-old woman who went to the doctor with fluctuating weakness of the limbs and muscle pain. By analyzing the patient's history and the results of repeated frequency electrical stimulation, chest computed tomography, thigh muscle magnetic resonance imaging, serum antibody detection, lymph node biopsy, etc., she was finally diagnosed with MG-concomitant IIM with squamous cell carcinoma of the thymus. Acetylcholine receptor antibody, titin antibody, ryanodine receptor antibody, anti-JO-1 antibody, and Ro-52 antibody tests were positive. MG-concomitant IIM is often associated with thymoma. The immunopathology mechanism may be different from that of pure MG or IIM, which needs further research.

PMID:39315106 | PMC:PMC11417422 | DOI:10.3389/fimmu.2024.1423547

An invasive and diffuse cranial actinomycosis with a dura-based mass mimicking a brain tumor: illustrative case

Fetched: October 16th, 2024, 2:01am UTC by Dejen T Gebrewahd

J Neurosurg Case Lessons. 2024 Sep 23;8(13):CASE24210. doi: 10.3171/CASE24210. Print 2024 Sep 23.

ABSTRACT

BACKGROUND: Actinomycosis is a chronic suppurative infection caused by non-spore-forming, anaerobic, and filamentous gram-positive bacteria. Primary central nervous system involvement is rare, with no specific clinical features, causing a clinical diagnostic dilemma. Imaging can help in localizing and characterizing the lesion; however, a definitive diagnosis relies on culture and/or histopathology.

OBSERVATIONS: The authors describe a 29-year-old male farmer with a rare case of invasive and diffuse cranial actinomycosis with a dura-based mass mimicking a brain tumor. Brain magnetic resonance imaging showed a moderately enhanced right frontoparietal infiltrative dura-based mass with marked thickening of the skull and multiple scalp actinomycotic abscesses. He underwent microsurgical excision of the mass, orbital decompression, and debridement of the scalp abscess. Histopathology confirmed actinomycosis, and his postoperative course was uneventful.

LESSONS: Invasive and diffuse cranial actinomycosis with a dura-based actinomycetoma is a rare presentation that poses a diagnostic challenge due to its nonspecific manifestations. Imaging is helpful in localizing and characterizing the lesion; however, histopathology remains the gold standard for diagnosing actinomycosis. A high index of suspicion is also warranted in patients with predisposing factors to promote an early diagnosis and the initiation of appropriate treatments to improve functional recovery and limit residual deficits. [https:]

PMID:39312809 | PMC:PMC11418642 | DOI:10.3171/CASE24210

Seminoma characterized by thickening of the pituitary stalk: A case report

Fetched: October 16th, 2024, 2:01am UTC by Bing Peng

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2024 Jun 28;49(6):863-869. doi: 10.11817/j.issn.1672-7347.2024.230493.

ABSTRACT

Intracranial seminoma is a rare malignant tumor originating from the germ cells, usually occurring in the pineal gland or pituitary gland. In June 2020, the Department of Endocrinology at the First Affiliated Hospital of Army Military Medical University admitted a 20-year-old male patient with an intracranial germ cell tumor and spinal metastases. The patient presented with headache, dizziness, and visual impairment. Enhanced magnetic resonance imaging (MRI) of the head indicated thickening of the pituitary stalk. After multidisciplinary consultation, the patient underwent endonasal transsphenoidal resection of the tumor, with the pathological diagnosis confirming germ cell tumor. The patient received regular radiotherapy postoperatively. One year later, the tumor recurred and metastasized, leading to a second surgery for tumor resection in the thoracic spinal canal, followed by continued chemotherapy. The patient's clinical symptoms, such as headache and visual disturbances, improved, but he continued to experience panhypopituitarism and required long-term hormone replacement therapy. Early diagnosis of intracranial germ cell tumors is challenging, and they are prone to metastasis and highly sensitive to radiotherapy and chemotherapy. Early diagnosis and multidisciplinary comprehensive treatment can help improve the quality of life and prognosis for patients.

PMID:39311782 | PMC:PMC11420978 | DOI:10.11817/j.issn.1672-7347.2024.230493

Survival Analysis, Clinical Characteristics, and Predictors of Cerebral Metastases in Patients with Colorectal Cancer

Fetched: October 16th, 2024, 2:01am UTC by Antoine Jeri-Yabar

Med Sci (Basel). 2024 Sep 2;12(3):47. doi: 10.3390/medsci12030047.

ABSTRACT

INTRODUCTION: Colorectal cancer (CRC) is the third most common cancer globally and a leading cause of cancer-related deaths. While liver metastasis is common, brain metastasis (BM) is rare, occurring in 0.1% to 14% of cases. Risk factors for BM include lung metastasis at diagnosis, rectal cancer, and mutations in RAS and KRAS genes. Due to its rarity, guidelines for BM screening and treatment are limited. The aim of this study is to identify the clinical characteristics and predictors of BM at the time of the initial diagnosis of CRC.

METHODS: We evaluated patients â‰¥18 years old with metastatic colorectal cancer and brain metastases at diagnosis from the SEER database (2010-2021). A retrospective cohort study was conducted to analyze overall survival and predictive factors for brain metastasis, utilizing multivariate logistic regression, Kaplan-Meier survival analysis, and the Cox proportional hazards models, with p-values < 0.05 considered significant.

RESULTS: Out of 24,703 patients with metastatic colorectal cancer (mCRC), 228 (0.92%) had brain metastasis (BM) at diagnosis. BM was more prevalent in average-onset mCRC (â‰¥50 years) compared to early-onset (<50 years) (1% vs. 0.55%, p = 0.004). Certain factors, such as older age and adenocarcinoma subtype, were associated with BM. Additionally, Asians/Pacific-Islanders (HR 1.83 CI: 1.01-3-33, p = 0.045) and American Indians/Alaska Natives (HR 4.79 CI 1.15-19.97, p = 0.032) had higher mortality rates, while surgical treatment and chemotherapy were linked to decreased mortality. Patients with BM had significantly worse overall survival (6 months vs. 21 months, p < 0.001).

CONCLUSION: BM in mCRC is uncommon, but it is associated with significantly worse outcomes, including markedly reduced overall survival. Our study highlights several critical factors associated with the presence of BM, such as older age and specific racial/ethnic groups, which may inform risk stratification and early-detection strategies. Our findings emphasize the need for heightened awareness and screening for BM in high-risk mCRC patients, as well as the inclusion of these patients in clinical trials to explore tailored therapeutic approaches aimed at improving survival and quality of life.

PMID:39311160 | PMC:PMC11417931 | DOI:10.3390/medsci12030047

Permalink for 'Clinical Benefits of Arterial Spin-Labeling Magnetic Resonance Imaging for Primary Diffuse Large B-cell Lymphoma of the Central Nervous System Presenting With Lymphomatosis Cerebri: A Case Report'

Clinical Benefits of Arterial Spin-Labeling Magnetic Resonance Imaging for Primary Diffuse Large B-cell Lymphoma of the Central Nervous System Presenting With Lymphomatosis Cerebri: A Case Report

Fetched: October 16th, 2024, 2:01am UTC by Akira Okazaki

Cureus. 2024 Aug 23;16(8):e67577. doi: 10.7759/cureus.67577. eCollection 2024 Aug.

ABSTRACT

Of the primary central nervous system (CNS) lymphomas, diffuse large B-cell lymphoma of the CNS (CNS-DLBCL) is an aggressive extranodal lymphoma that originates in the CNS. Lymphomatosis cerebri (LC) is an exceptionally rare subtype, posing diagnostic challenges due to the absence of abnormal enhancement and making the identification of suitable biopsy sites difficult. Arterial spin-labeling magnetic resonance imaging (ASL-MRI) is a non-invasive MRI technique that quantifies tumor blood flow. This report presents a case of CNS-DLBCL with LC, which was evaluated and biopsied using ASL-MRI of the brain. Herein, we present a case of a 32-year-old female who presented with abnormal involuntary movements and cognitive impairments. She underwent an MRI which showed a diffuse and infiltrative lesion in the bilateral basal ganglia, showing a high signal intensity area on fluid-attenuated inversion recovery (FLAIR) images with no contrast enhancement. Computed Tomography scans and Gallium-67 scintigraphy showed no abnormal uptake throughout the whole body. Although she received corticosteroid treatments, subsequent MRI showed an enlarged lesion, and she underwent a brain biopsy. The biopsy site was determined based on high perfusion demonstrated by ASL-MRI and the histological findings positive for B-cell markers led to diagnoses of CNS-DLBCL, specifically LC. Her symptoms improved following high-dose methotrexate and whole-brain irradiation. Subsequent MRI scans showed a dramatic improvement, and the high perfusion observed in the ASL-MRI disappeared. This report has emphasized the critical role of histopathology in diagnosing CNS-DLBCL presenting with LC, a highly aggressive lymphoma requiring prompt treatment. In this case, high ASL-MRI signal intensity indicated an increased area of tumor cell density suitable for biopsy. This is the first report to establish a relationship between cell density and ASL-MRI signal intensity in LC. The challenge in locating the optimal biopsy site due to the lack of contrast enhancement and the difference in tumor cell densities within high signal intensity areas on FLAIR imaging is presented. ASL-MRI provides information on tumor blood flow (TBF), which may be associated with higher tumor cell density, making it a valuable tool for identifying suitable biopsy sites. Thus, ASL-MRI is clinically beneficial for the biopsy of LC cases that show high signal intensity on FLAIR images without contrast enhancement.

PMID:39310434 | PMC:PMC11416737 | DOI:10.7759/cureus.67577

Permalink for 'Primary central nervous system lymphoma with initial spinal cord involvement (PCNSL-SC) is a rare entity: 4 case reports and review of literature'

Primary central nervous system lymphoma with initial spinal cord involvement (PCNSL-SC) is a rare entity: 4 case reports and review of literature

Fetched: October 16th, 2024, 2:01am UTC by V Harlay

Rev Neurol (Paris). 2024 Mar;180(3):224-229. doi: 10.1016/j.neurol.2023.10.003. Epub 2023 Oct 26.

NO ABSTRACT

PMID:39300797 | DOI:10.1016/j.neurol.2023.10.003

Clinical case of plurihormonal pituitary adenoma (STH/ACTH/TSH/FSH/LH-secreting), diagnostic pitfalls

Fetched: October 16th, 2024, 2:01am UTC by D N Kostyleva

Probl Endokrinol (Mosk). 2024 Sep 15;70(4):24-31. doi: 10.14341/probl13349.

ABSTRACT

According to numerous studies, the most common pituitary tumors are prolactinomas, reaching 60% of all clinically significant adenomas, the next in order are non-functional pituitary adenomas, somatotropinomas, corticotropinomas and thyrotropinomas. Plurigormonal tumors occur in less than 1% of all pituitary adenomas. The most common form of mixed secretion adenoma in this patient population, derived from the Pit-1 cell line, produces various combinations of hormones: growth hormone (GH), prolactin (PRL), thyroid-stimulating hormone (TSH). This article presents a patient with a plurihormonal two-component pituitary macroadenoma with a rare and exceptional combination of secreted hormones - GH / adrenocorticotropic hormone (ACTH) / TSH / follicle-stimulating hormone (FSH) / luteinizing hormone (LH) with minimal nonspecific clinical manifestations such as diabetes mellitus and poorly controlled arterial hypertension.

PMID:39302862 | DOI:10.14341/probl13349

Using AI to navigate complex neurosurgical procedures in rare gliomas

Fetched: October 16th, 2024, 2:01am UTC by Mayur Wanjari

Neurosurg Rev. 2024 Sep 20;47(1):649. doi: 10.1007/s10143-024-02910-2.

NO ABSTRACT

PMID:39302487 | DOI:10.1007/s10143-024-02910-2

Clinical utility of plasma cell-free DNA (cfDNA) in diffuse gliomas for the detection of IDH1 R132H mutation

Fetched: October 16th, 2024, 2:01am UTC by Swati Singh

Pathol Res Pract. 2024 Sep 14;263:155571. doi: 10.1016/j.prp.2024.155571. Online ahead of print.

ABSTRACT

Liquid biopsy for CNS tumors is in its nascent phase, hindered by the low levels of circulating tumor DNA (ctDNA). Overcoming this challenge requires highly sensitive molecular techniques. DD-PCR emerges as a standout technique due to its ability to identify rare mutations, copy number variations, and circulating nucleic acids, making it one of the best methods for identifying somatic mutations in cell-free DNA (cfDNA). Despite promising results from various studies demonstrating the feasibility of obtaining informative ctDNA profiles from liquid biopsy samples, challenges persist, including the need to standardize sample collection, storage, and processing methods, define clear assay positivity thresholds, and address the overall low assay sensitivity. Our two-phase study began by assessing DD-PCR efficacy in FFPE tissues, revealing robust concordance with immunohistochemistry. In Phase 1 (85 cases), DD-PCR on FFPE tissues demonstrated 100 % sensitivity and specificity for IDH1 R132H mutations. In Phase 2 (100 cases), analysis extended to cfDNA, maintaining high specificity (100 %) with moderate sensitivity (44.2 %). Overall concordance with immunohistochemistry was 61 %, highlighting liquid biopsy's potential in glioma management. The findings emphasized DD-PCR's clinical utility in both tissue and liquid biopsy, underscoring its role in early detection, diagnosis, and therapeutic monitoring of diffuse gliomas.

PMID:39298928 | DOI:10.1016/j.prp.2024.155571

Clinical Course of Neurologic Adverse Events Associated With Immune Checkpoint Inhibitors: Focus on Chronic Toxicities

Fetched: October 16th, 2024, 2:01am UTC by Simone Rossi

Neurol Neuroimmunol Neuroinflamm. 2024 Nov;11(6):e200314. doi: 10.1212/NXI.0000000000200314. Epub 2024 Sep 19.

ABSTRACT

BACKGROUND AND OBJECTIVES: The clinical course and the risk of chronicity of neurologic immune-related adverse events (n-irAEs) associated with immune checkpoint inhibitors (ICIs) are not well documented. This study aimed to characterize the clinical course of n-irAEs and assess the prevalence of chronic events.

METHODS: This nationwide, multicenter, retrospective study included patients with n-irAEs identified at 7 Italian hospitals. The clinical course of n-irAEs was categorized into fulminant (if resulted in death within 12 weeks), monophasic (if resolved within 12 weeks), and chronic (if persisted beyond 12 weeks). Chronic n-irAEs were further subdivided into active (if there was indirect evidence of ongoing inflammation [i.e., required ongoing immunosuppression, relapsed on steroid tapering, or exhibited neurologic progression]) and inactive (if patients had neurologic sequelae without ongoing inflammation). Comparisons between groups and time-to-death analyses were performed.

RESULTS: Sixty-six patients were included (median age: 69 years [IQR 62-75]; 53 [80%] men). n-irAEs involved the peripheral nervous system in 48 patients (73%), the central nervous system in 14 (21%), and both in 4 (6%). Twelve patients (18%) had a fulminant course, with the risk being significantly higher in those with concurrent myocarditis (OR 5.4; 95% CI [1.02-28.31]). Among 54 patients with a nonfulminant course, 23 (43%) had a monophasic n-irAE and 31 (57%) had a chronic n-irAE, of which 16 of 31 (52%) were chronic active (due to ongoing immunosuppression [69%], relapses at corticosteroid tapering [19%], or neurologic disease progression [12%]) and 15 of 31 (48%) were chronic inactive. In patients with chronic inactive n-irAEs, neurologic sequelae included cerebellar ataxia (33%), neuromuscular weakness (27%), visual loss (13%), sensory disturbances (13%), focal neurologic signs (7%), and cognitive impairment (7%). Compared with patients with monophasic events, those with chronic n-irAEs had a higher rate of severe neurologic disability at the last evaluation (p < 0.01), shorter survival (p < 0.01), and higher overall mortality (p < 0.01), primarily due to cancer progression.

DISCUSSION: More than half of the patients with n-irAEs who survived the acute phase developed a chronic condition. Patients with chronic n-irAEs were at higher risk of death, mainly due to cancer progression. Future studies are needed to further characterize chronic n-irAEs and identify optimal long-term management strategies.

PMID:39298719 | PMC:PMC11413993 | DOI:10.1212/NXI.0000000000200314

AB095. Methylation class infant-type hemispheric glioma with CDKN2A/B deletion: a rare case report

Fetched: October 16th, 2024, 2:01am UTC by Mohammad Galih Pratama

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB095. doi: 10.21037/cco-24-ab095.

ABSTRACT

BACKGROUND: Gliomas are the most common central nervous system (CNS) tumors in infant but with incidence rate only 1.38 per 100,000. Due to distinctive clinical, histologic, and molecular features, the current World Health Organization (WHO) CNS5 separate gliomas in children from adult as pediatric-type diffuse high-grade and low-grade gliomas. Infant hemispheric gliomas constitute a biologically and clinically distinct subgroup of pediatric-type diffuse high-grade. In this case we present clinical, radiographic, intraoperative, and methylation profiling of the first infant-type hemispheric glioma diagnosed in Indonesia.

CASE DESCRIPTION: This is a case report of infant operated at Dr. Cipto Mangunkusumo National General Hospital, Jakarta, Indonesia in February 2024. A 6-month-old male infant brought to regional hospital due to head enlargement compared to infant of the same age, head circumference was 50 cm [>2 standard deviation (SD)] with frontal bossing. Brain MRI showed large multi-loculated cystic lesion at left parietooccipital region, which appeared hypointense on T1-weithgted (T1W), hyperintense on T2-weighted (T2W) and fluid-attenuated inversion recovery (FLAIR), with irregular contrast enhancing border. There was isointense lesion on T1W with inhomogeneous contrast enhancement. The largest volume of cystic lesion was 216 cm. Intraoperatively, parietal bone was thinner than usual. The brain was tense, purplish, and non-pulsating, giving the impression of a tumor with indistinct borders with the normal cortex. Dark clear yellowish fluid was spurt after the cortex was incised. Histopathological findings revealed moderate to high cellularity tumor tissue with mitosis, microvascular proliferation, palisading necrosis. In collaboration with German Cancer Research Center (DKFZ), DNA methylation array analysis showed the tumor to match the Infant-type Hemispheric Glioma methylation class (calibrated score 0.94) with deletion of cyclin dependent kinase inhibitor 2A/B (CDKN2A/B).

CONCLUSIONS: Methylation class (MC) infant-type hemispheric glioma may present with macrocephaly. On magnetic resonance imaging (MRI) it may appear as large multi-loculated cystic lesion and irregular contrast enhancing border. The key diagnostic criteria for infant-type hemispheric glioma involve combination of clinical, pathological, and molecular feature.

PMID:39295413 | DOI:10.21037/cco-24-ab095

AB090. A rare case report: spheno-orbital meningioma with dural involvement

Fetched: October 16th, 2024, 2:01am UTC by Radityo Priambodo

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB090. doi: 10.21037/cco-24-ab090.

ABSTRACT

BACKGROUND: Spheno-orbital meningiomas are rare, slow-growing tumors originating from the sphenoid ridge, causing proptosis and visual impairment. Surgical intervention can be complex due to the tumor's proximity to critical structures.

CASE DESCRIPTION: A 67-year-old woman presented with a gradually enlarging protrusion of her left eye over three years. Referred to the neurosurgery clinic at Hasan Sadikin Hospital, Bandung, she underwent a craniectomy with concomitant cranioplasty to remove the tumor. The surgery included resection of tissue beneath the dura. Postoperatively, the patient's eye returned to its normal position, and her vision improved to 4/60. Spheno-orbital meningiomas, though primarily involving the sphenoid wing, can extend to surrounding tissues, complicating surgical resection. The patient's gradual proptosis over three years signifies the slow-growing nature of these tumors. Preoperative imaging and careful surgical planning are crucial for optimal outcomes. The craniectomy approach, combined with cranioplasty, allows for effective tumor removal and restoration of cranial aesthetics. The inclusion of subdural tissue resection addresses potential residual tumor cells, minimizing recurrence risk. Postoperative recovery in this case was favorable, with significant improvement in both ocular alignment and vision. However, the vision improved to 4/60 suggests some degree of irreversible optic nerve damage, which is a common challenge in these cases. Continuous monitoring and adjunct therapies may be necessary to manage any long-term sequelae.

CONCLUSIONS: The patient's significant improvement in visual acuity and visual field following craniectomy and tumor removal demonstrates the potential for successful treatment of these conditions. Early detection and treatment are crucial in preventing long-term visual impairment and blindness.

PMID:39295408 | DOI:10.21037/cco-24-ab090

AB088. Spinal cord diffuse midline glioma in adults: a case report and literature review

Fetched: October 16th, 2024, 2:01am UTC by Ming Yang

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB088. doi: 10.21037/cco-24-ab088.

ABSTRACT

BACKGROUND: Spinal cord diffuse midline gliomas are rare, infiltrative entities with an extremely grim prognosis. Standard of care is limited and extrapolated from those for intracranial gliomas, focusing on maximal safe resection, chemotherapy and radiation therapy. These do not prolong survival significantly and while advances in molecular profiling and targeted therapy have been promising, further research still needs to be performed. Here, we present a case of a young lady with a cervical cord diffuse midline glioma, along with a literature review of the disease and treatment options.

CASE DESCRIPTION: A 35-year-old female presented with progressive neck pain and left sided weakness. MRI revealed an intramedullary cervical spinal cord lesion. The lesion progressed rapidly to the medulla, resulting in lower cranial nerve palsies and left hemiplegia. Investigations for autoimmune and infective causes were negative. Cervical laminectomy and debulking was performed. Histological analysis showed high grade diffuse glioma, IDH-wildtype, loss of H3K27me3 staining and H3K27M positivity. The patient was treated with fractionated radiation and temozolamide, followed by lomustine and bevacizumab. A literature review was performed to better understand the molecular features, natural history and treatment options for spinal cord high grade gliomas. Our case highlights the importance of maintaining broad differentials for patients exhibiting features of cervical myelopathy. Malignant spinal cord tumours could be a differential. Molecular testing can aid in achieving an accurate diagnosis to better understand prognosis and determine treatment options. Early, function-preserving debulking with neuromonitoring is feasible. Adjuvant therapy with chemotherapy and radiation can prolong survival.

CONCLUSIONS: Spinal cord diffuse midline gliomas H3 K27-altered demonstrate rapid progression and a poor prognosis. They should be considered as a differential in patients with cervical myelopathy. Molecular testing for H3 K27 alterations facilitates an accurate diagnosis. Surgical debulking and adjuvant therapy are viable treatment options.

PMID:39295406 | DOI:10.21037/cco-24-ab088

AB065. Basal ganglia germ cell tumor presenting with visual loss in adult: a case report

Fetched: October 16th, 2024, 2:01am UTC by Vega Pangaribuan

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB065. doi: 10.21037/cco-24-ab065.

ABSTRACT

BACKGROUND: Basal ganglia germ cell tumor (GCT) in an adult male is quite rare. Intracranial germ cells tumor usually occurs in the midline axis, involving pituitary, sellar region, or both. Only in rare circumstances GCTs developed in basal ganglia.

CASE DESCRIPTION: In this case report, we presented a patient with a main complaint of progressive visual loss from his right eye from one year prior. He had been going to the ophthalmologist but there was no improvement. A brain magnetic resonance imaging (MRI) revealed a large left basal ganglia tumor with involvement of the hypothalamus and uncus, causing pressure on the optic and oculomotor nerve. Interestingly, the patient had no decrease in motor function. Complaints of severe headache, persistent vomiting, and decrease of vision of his left eye prompt us to conduct an urgent craniotomy tumor excision. As the patient had no motor deficit prior to surgery, we chose to do a transcortical approach through the left Kocher's point, entering the left ventricle, and accessing the tumour from the floor of the frontal horn. The surgery went uneventfully. Following the surgery the patient had no motor weakness, no complaint of headache and vomiting. The visual complaints persisted. And the pathological anatomy resulted in germinoma, in which the patient underwent radiotherapy for the follow up treatment.

CONCLUSIONS: Basal ganglia germinoma in adult is a rare occurrence, and due to its location, the surgical approach to access the mass should be individualized in each patient. Transcortical approach from the left Kocher's point was a safe and accessible approach for our patient. As the tumor was close to important structures such as hypothalamus, thalamus, and basal ganglia, only partial excision was done.

PMID:39295383 | DOI:10.21037/cco-24-ab065

AB061. Oligodendroglioma in a 10-year-old girl with history of mediastinal mass and radiotherapy: a case report

Fetched: October 16th, 2024, 2:01am UTC by Fahmi Rasyid

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB061. doi: 10.21037/cco-24-ab061.

ABSTRACT

BACKGROUND: Oligodendroglioma is a part of diffusely infiltrating gliomas with poorly understood pathological aspect often manifesting histologic overlap among other intracranial tumors, though it only consisted 5% in total. Its occurrences among pediatric is a rare finding, constituted <1% of total brain tumors in the population, but with molecularly distinct properties to its adult version. Metachronous pediatric oligodendroglioma plus mediastinal mass is even more uncommon, as history of double primary tumor serves as a groundbreaking point in understanding individual pathology. This study reports a rare case of pediatric oligodendroglioma with history of mediastinal mass.

CASE DESCRIPTION: This study reports a rare case of pediatric oligodendroglioma with history of mediastinal mass. A 10-year-old female presented to our emergency department with altered consciousness level in the past couple of weeks, and progressively worsening for 3 days. Moreover, she withstands a yearlong headache, plus continuously worsens weakness on the left side of the extremities for 6 months, right sided weakness of face and visual disturbances appeared at least 4 months prior presentation; no seizures were observed. History of pericardial effusion due to mediastinal mass was also recorded in 3 years before with history of pericardial tapping, with cytology showed malignant lesion; with history of 5 times radiotherapy cycle for treatment purpose, and patient discontinued therapy due to loss of follow up. Non-contrast head computed tomography (CT)-scan observed a mix-density lesion on the frontotemporoparietal region with calcification. On magnetic resonance imaging (MRI), mix-intensity lesion was found suggesting a glioma lesion. Patient underwent removal of tumor, with gross tumor removal was achieved. Histopathology result of oligodendroglioma was found.

CONCLUSIONS: The management of pediatric oligodendroglioma in our case involves wide range of discipline to elaborate its interaction with prior metachronous mediastinal mass, and findings of double primary tumor should raise any suspicion for any tumor-related genetic mutations.

PMID:39295379 | DOI:10.21037/cco-24-ab061

Permalink for 'AB058. Giant bilateral intraventricle ependymoma in pediatric patient with essential tremor as a main symptom: a rare case report'

AB058. Giant bilateral intraventricle ependymoma in pediatric patient with essential tremor as a main symptom: a rare case report

Fetched: October 16th, 2024, 2:01am UTC by Nailul Humam

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB058. doi: 10.21037/cco-24-ab058.

ABSTRACT

BACKGROUND: Giant bilateral intraventricle ependymoma in pediatric patient is indeed a rare type of brain tumor that primarily affects children, accounting for about 5-10% of all brain tumors in children. It arises from ependymal cells, which line the ventricles of the brain and the spinal cord. Essential tremors in the tumor brain have been related to several brain areas, including the thalamus, cortex, globus pallidus, and cerebellum.

CASE DESCRIPTION: We presented an 8-year-old boy with diagnosed ependymoma with essential tremor, double vision, and dyspnea as symptoms. The magnetic resonance imaging (MRI) with contrast showed the mass appears to be isointense with clear boundaries and regular edges; the impression comes from the bilateral ventricle lateral, which is welded to the bilateral thalamus. A surgical resection was performed in this case. The indication for surgery in this case was due to symptoms of shortness of breath and tremors that unstopped since 1 month ago. The surgery was performed with bilateral occipital craniectomies with the aim of facilitating access to the tumor and a bilateral occipital transcortical approach. Histopathological examination revealed support for an ependymoma.

CONCLUSIONS: Ependymoma, especially in children, has various symptoms based on the size, location, and extent of the tumor. MRI with contrast is the main modality for the diagnosis of ependymomas, followed by histopathological examination to confirm. Ependymoma should be considered, and these tumors must be monitored routinely because they can recur. It should be conducted in a multidisciplinary manner to ensure excellent outcomes and avoid fatal complications.

PMID:39295376 | DOI:10.21037/cco-24-ab058

Permalink for 'AB056. Management of a rare case of adult intracranial large temporal mature teratoma in limited neurosurgical care settings: a case report'

AB056. Management of a rare case of adult intracranial large temporal mature teratoma in limited neurosurgical care settings: a case report

Fetched: October 16th, 2024, 2:01am UTC by Yustinus Robby Budiman Gondowardojo

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB056. doi: 10.21037/cco-24-ab056.

ABSTRACT

BACKGROUND: Teratoma is a neoplasm constitutes non germinomatous germ cell tumors, that composed of different tissue types consist of ectoderm, endoderm, and mesoderm. Intracranial teratomas occurs primarily in paediatrics group, it is very rare tumors of adults, account for only 0.3-0.5% of all primary brain tumors and usually occurs and involve midline structures. Teratomas are classified into three main groups: mature, immature, and teratomas with malignant transformation. We reported an uncommon case of mature large intracranial teratoma in an adult patient.

CASE DESCRIPTION: We presented our case as a descriptive report in accordance with the CARE case report guideline. A 54-year-old woman came to Neurosurgery Outpatient Clinic with a history of chronic progressive headache since 5 years ago, along with blurred vision of the right eye and history of seizure, and slight hemiparesis. There is no history of other tumor of the patient and her family. A non-contrast head magnetic resonance imaging (MRI) revealed extra-axial mixed intensity mass at right temporal base extend to frontal and parietal with size 7.28 cm Ã— 7.23 cm Ã— 7.48 cm. Near total tumor removal (95%) was performed through extended pterional approach, we left inferior capsule attached to the M2 artery and dural base. Macroscopically, the tumor consists of mixed consistency, with some tumor tissue like hair and bone. Histopathological results conclude a mature teratoma, with findings of lamellated keratin, bone trabeculae, fat, and sebaceous glands. Postoperatively, patient had slight worsening of hemiparesis, with post operative computed tomography (CT) scan reveals a near complete tumor removal. After discharged, due to financial and distance to neurosurgical center reasons, the patient was unable to go to the hospital, and was lost to follow-up.

CONCLUSIONS: We reported a rare case of intracranial large temporal mature teratoma of an adult. Despite the better prognosis of this tumor, patients should be followed up for a long period, as any malignant tumor, new or recurrent teratomas might arise. In our province, geographically we have only three neurosurgeons, all located in Kupang City, Timor Island, among total 42 inhabited islands. Low socioeconomic status, and financial problems usually become problems ended in lost to follow up. Further strategy to improve neurosurgical care is needed.

PMID:39295374 | DOI:10.21037/cco-24-ab056

Permalink for 'AB054. Pituitary abscess: a case report of patient after two-time endonasal endoscopic transphenoid approach for pituitary adenoma'

AB054. Pituitary abscess: a case report of patient after two-time endonasal endoscopic transphenoid approach for pituitary adenoma

Fetched: October 16th, 2024, 2:01am UTC by Van Linh Nguyen

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB054. doi: 10.21037/cco-24-ab054.

ABSTRACT

BACKGROUND: Endonasal endoscopic approach (EEA) has become an integral part of neurosurgery, particularly for managing various pathologies involving the sellar and parasellar region and removing lesion in that area. But there is a rare condition in this area that not so common in literature is pituitary abscess (PA) after EEA for pituitary adenoma.

CASE DESCRIPTION: A healthy 57-year-old man presented with a recurrent of bitemporal hemianopsia, persistent hypoadrenocorticism. In the history, he underwent two times of endonasal endoscopic transphenoid to remove pituitary adenoma. Magnetic resonance imaging (MRI) showed a sphenoid and sellar lesion with suprasellar extension and compression of the optic chiasm, with homogenous signal inside. Endoscopic transphenoid surgery was performed and the lesion was found is an abscess inside sphenoid and sellar with frank pus was obtained. But culture of the fluid was negative. After the operation, the patient was treated with antibiotics. His symptoms resolved after EEA, he improved visual field at this time but still in hypoadrenocorticism condition. An MRI was obtained after the operation to reveal that the lesion in sphenoid and sellar totally removed. We report on a rare case of a PA after two times of endonasal endoscopic transphenoid surgery of pituitary adenoma, and discuss the management of these conditions. We report a patient that came with us with recurrent of bitemporal hemianopsia and persistent hypoadrenocorticism. The patient undergone endonasal endoscopic sphenoid two times in the past. He didn't have clinical signs of infection. Imaging feature on MRI was high T2 and also high on T1 with homogenous signal inside with size 3.2 cm Ã— 3.2 cm. Another EEA for this patient was performed to remove abscess and obtain pus from the lesion, but the result of culture was negative. He improved visual field but still in hypoadrenocorticism.

CONCLUSIONS: In this case we report on a rare complication of transphenoid surgery, a PA progresses after EEA for a pituitary tumor. With this clinical experience, the correct diagnosis of PA before surgery, so it is a key leading to an exactly treatment for this condition. endonasal endoscopic transphenoid approach to drainage and removing abscess, and using antibiotics are necessary to improve the outcome of PA.

PMID:39295372 | DOI:10.21037/cco-24-ab054

AB044. Leptomeningeal metastatic esthesioneuroblastoma: a systematic review with case illustration

Fetched: October 16th, 2024, 2:01am UTC by Wenting Xie

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB044. doi: 10.21037/cco-24-ab044.

ABSTRACT

BACKGROUND: Esthesioneuroblastomas (ENBs) represent a rare subset of malignancies originating within the upper aerodigestive tract, characterized by a propensity for local metastasis to the intracranial compartment through the cribriform plate. These neoplasms are frequently associated with a high incidence of local recurrence subsequent to therapeutic intervention. In this report, we review the literature and present a case of a patient with extensive meningeal and leptomeningeal dissemination of ENB, with a survival period of 2 years.

METHODS: A systematic review of literature was conducted in accordance with the PRISMA guidelines. Additionally, the presentation, surgical management, chemotherapy, and outcomes of a 60-year-old female presenting with extensive meningeal metastasis at onset.

RESULTS: Following the literature review, 43 distinct works were identified, extracted variables from the remaining seven papers that met our inclusion criteria included demographic data, presenting symptoms, recurrence status, primary tumor location, location of Leptomeningeal metastasis of ENB, interval from initial treatment to recurrence, initial treatment approach, treatment-related complications, survival outcomes, and post-treatment status of patients. The average age at diagnosis was 52.6 years (range, 31-76 years), with females comprising 63.6% of the sample. The majority underwent gross-total resection and received adjuvant radiotherapy as initial therapy. The median time to intracranial metastasis was 57 months post-primary tumor diagnosis. The median overall survival for ENB with intracranial metastasis was 14 months.

CONCLUSIONS: ENB exhibits a marked propensity for recurrence and can metastasize to the intracranial space years post-remission, which correlates with reduced survival. Therefore, perpetual radiographic surveillance is warranted for all ENB patients to detect late recurrences and intracranial spread promptly.

PMID:39295362 | DOI:10.21037/cco-24-ab044

Permalink for 'AB039. Malignant transformation of intracranial germinoma to non-germinomatous germ cell tumors-incidence, treatment strategy and outcome: a case report and literature review'

AB039. Malignant transformation of intracranial germinoma to non-germinomatous germ cell tumors-incidence, treatment strategy and outcome: a case report and literature review

Fetched: October 16th, 2024, 2:01am UTC by Zakir Chew

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB039. doi: 10.21037/cco-24-ab039.

ABSTRACT

BACKGROUND: Intracranial germ cell tumors are rare neoplasms seen mainly in children and adolescents. Compared to non-germinomatous germ cell tumors (NGGCTs), germinomas typically respond well to chemo-radiotherapy and portend a better prognosis. We report here a patient with intracranial germinoma which showed complete remission following chemo-radiotherapy but re-presented with malignant transformation to NGGCT thirteen years later. We then performed a literature review to understand the treatment strategy and outcome of this rare phenomenon.

METHODS: Review of the patient's case note, followed by a literature review of the topic.

RESULTS: A 13-year-old male presented with 6 weeks of polyuria and polydipsia. Imaging showed bifocal (suprasellar and pineal) lesions. Histology from an open biopsy diagnosed a germinoma. He underwent extended whole ventricular irradiation with local boost and chemotherapy, which led to complete resolution on imaging. Thirteen years later, he re-presented with headaches and diabetes insipidus. Imaging showed a new right frontal lesion with elevated serum beta-human chorionic gonadotropin (Î²-hCG) and alpha-fetoprotein (AFP). The tumor was excised with histology confirming a mixed tumor comprising germinoma, yolk sac, and choriocarcinoma. A literature review returned eight case reports of malignant transformation of intracranial germinoma to NGGCTs, covering eight patients (seven males, and one female; aged 5-23 years old). Four had the primary tumor located in the pineal region, three in the suprasellar region, and one at both sites. Recurrence with malignant transformation occurred at a median of 24.5 months after initial diagnosis (range, 5 months to 14 years). Five patients had recurrences intra-abdominally, all of whom had a ventriculoperitoneal shunt (VPS) inserted during the treatment of the initial tumor. Of the remaining three intracranial recurrences, two were at the same site while one at a distant site. The most common histology was yolk sac tumor (five patients), followed by two each of immature teratoma, choriocarcinoma, and embryonal carcinoma (some were mixed germ cell tumors). Of those with intra-abdominal recurrence, four died within 2 months of diagnosis. Those with intracranial recurrences survived longer, with a median survival of 15 months, and one longer than 27 months.

CONCLUSIONS: Malignant transformation to NGGCTs is rare. Relapse can occur intracranially, or in cases where VPS was present, intraabdominally. Outcomes following transformation were poor despite aggressive treatment, with those intra-abdominal recurrences faring much worse.

PMID:39295357 | DOI:10.21037/cco-24-ab039

AB027. Distinguishing oligodendroglioma from astrocytoma: a radiological case report

Fetched: October 16th, 2024, 2:01am UTC by Annisa Poppy Zolanda

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB027. doi: 10.21037/cco-24-ab027.

ABSTRACT

BACKGROUND: Oligodendroglioma, the third most common glioma, accounts for 5% of primary brain tumors and around 20% of all glial neoplasms. It is a rare brain tumor that develops from glial cells called oligodendrocytes, which cover nerve cells. Oligodendroglioma is classified as an adult diffuse glioma in the fifth edition of the World Health Organization (WHO) Classification of Tumors of the Central Nervous System (CNS). Patients may present with cognitive impairment, aphasia, behavioral changes, and seizures. The symptoms at presentation are often related to the anatomic location of the tumor.

CASE DESCRIPTION: A 55-year-old female presented with episodes of facial seizure with drooping on the right side of her face 4 months before coming to our hospital. Her seizures lasted around one minute, causing her to be unable to speak during the seizure. She also complained of chronic headaches in the last 1 year. She initially underwent a non-contrast computed tomography (CT) scan of the brain. The scans showed an isodense calcified mass on the perifalcine anterior left lobe with surrounding peritumoral edema. Magnetic resonance imaging (MRI) brain confirmed the presence of an intraaxial white matter mass involving the left frontal lobe. This tumor did not demonstrate any contrast enhancement. MRI findings were suggestive of a low-grade astrocytoma. Histopathological examination following craniotomy and tumor removal surgery confirmed the diagnosis of oligodendroglioma not otherwise specified (NOS) CNS WHO grade II. Molecular analysis revealed to be isocitrate dehydrogenase (IDH) wildtype, inconsistent with the classic molecular profile of oligodendroglioma. The patient underwent adjuvant radiotherapy following surgery. Subsequent follow-up assessments demonstrated stable disease with improvement in symptoms.

CONCLUSIONS: Differentiating between oligodendroglioma and astrocytoma poses a significant challenge due to their overlapping clinical and radiological features, yet understanding their key differences is crucial for accurate diagnosis. On MRI, calcification strongly favors oligodendrogliomas, while T2/fluid-attenuated inversion recovery (FLAIR) mismatch sign favors astrocytoma. Only 50% of oligodendrogliomas appear to be contrast-enhanced. While oligodendrogliomas and astrocytomas share some similarities, careful consideration is essential for accurate differentiation, even though histopathological and molecular findings are the final determinants of diagnosis.

PMID:39295345 | DOI:10.21037/cco-24-ab027

AB026. A rare case report: multiple hemangioblastoma

Fetched: October 16th, 2024, 2:01am UTC by Wa Ode Nur Intan Octina

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB026. doi: 10.21037/cco-24-ab026.

ABSTRACT

BACKGROUND: Hemangioblastomas (HBLs) are uncommon tumors of the central nervous system (CNS), corresponding to 1% to 2.5% of all intracranial tumors. They can present sporadically or in patients with von Hippel-Lindau (VHL) disease along with a variety of benign and malignant tumors, and are most often located in the cerebellum, brainstem, and spinal cord. Although surgical resection is currently considered the main therapeutic option for symptomatic lesions, evidence supporting the application of microsurgery has not been systematically assessed. However, post-operative outcomes can vary depending on factors including disease location, number of lesions, and tumor characteristics that make complete resections difficult. The objective of this case report is to document a rare case of multiple HBL in a 45-year-old man, highlighting the need for further research, the absence of a standardized treatment protocol for appropriate management strategies.

CASE DESCRIPTION: A 45-year-old man presented to the outpatient neurology department with a chief complaint of gradual weakness of the left side of his body, walking unsteadily, and seizure. Neurological examination revealed a positive dysmetria sign. According to his medical records, he was diagnosed with multiple HBL since August 2022 and subsequently underwent two times partial tumor resections, and a ventriculoperitoneal (VP)-shunt due to hydrocephalus. The latest magnetic resonance imaging examination shows improvement in the original tumor. He is currently receiving symptomatic therapy with complaints have improved.

CONCLUSIONS: This case report highlights a rare occurrence of multiple HBL in a 45-year-old man. Surgical management of HBL was the most common modality and was suggested as an effective and optimal treatment, but the recurrence possibility of the cystic wall tumor must also be considered in the choice of treatment.

PMID:39295344 | DOI:10.21037/cco-24-ab026

AB021. Primary diffuse large B-cell lymphoma of the central nervous system: role of imaging in a rare disease-a case report

Fetched: October 16th, 2024, 2:01am UTC by Ibrahim Abubakar Hilmy

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB021. doi: 10.21037/cco-24-ab021.

ABSTRACT

BACKGROUND: Primary diffuse large B-cell lymphoma (DLBCL) of the central nervous system (CNS) constitutes approximately 1-3% of primary CNS tumors. This rare CNS tumor presents diverse clinical manifestations and variable imaging characteristics, making its diagnosis challenging using radiological modalities alone. Recognizing the role of imaging in different stages of treatment and understanding the various imaging patterns and radiological features is crucial for timely diagnosis and appropriate therapeutic decision-making.

CASE DESCRIPTION: A 62-year-old woman presented to our tertiary hospital with a 1-month history of left-sided headache and left hemiparesis. A computed tomography (CT) scan from a previous hospital revealed a space-occupying lesion in the right temporo-occipital region with signs of increased intracranial pressure but no evidence of hemorrhage or calcifications. Subsequent magnetic resonance imaging (MRI) demonstrated a solid intra-axial lesion in the right temporoparietooccipital region, which exhibited heterogeneous enhancement with diffusion restriction. The lesion appeared hypointense on T1-weighted and hyperintense on T2-fluid attenuated inversion recovery (T2-FLAIR) sequence, containing cystic components surrounded by edema and causing compression of the occipital horn of the right lateral ventricle without midline shift. Immunohistochemical analysis confirmed the diagnosis of high-grade DLCBL. The patient underwent surgical resection followed by chemotherapy. A follow-up MRI revealed a new lesion in the right temporoparietooccipital region, which had increased in size, suggestive of lymphoma recurrence. The variable radiological presentations of primary CNS lymphoma (PCNSL) can often mimic other pathologies, such as gliomas, infections, abscesses, and secondary lymphomas, making it a diagnostic challenge. The imaging findings in this case align with the typical features of PCNSL. Both initial and follow-up imaging played a crucial role in guiding therapeutic decisions and assessing treatment response.

CONCLUSIONS: This case report underscores the importance of recognizing the imaging characteristics of primary DLBCL of the CNS. Timely and accurate diagnosis based on imaging patterns is essential for expediting therapeutic decisions and evaluating the efficacy of treatment interventions, ultimately improving patient outcomes.

PMID:39295339 | DOI:10.21037/cco-24-ab021

AB013. Infantile brainstem high grade glioma: a case report

Fetched: October 16th, 2024, 2:01am UTC by Shi Hui Ong

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB013. doi: 10.21037/cco-24-ab013.

ABSTRACT

BACKGROUND: Congenital infantile brainstem high-grade gliomas (HGGs) are extremely rare. Given the limited literature characterizing this disease, management of these tumors remains challenging. Brainstem HGGs are generally associated with extremely poor prognosis. Limited reports of spontaneous regression of radiologically diagnosed infantile brainstem tumors exist in published literature. We aim to report a unique case of spontaneous regression of a rare infantile HGG brainstem glioma and to review the current literature.

CASE DESCRIPTION: In this case report, we document the first histologically proven congenital brainstem HGG with molecular characteristics that did not fall under any previously well-defined pediatric brain tumor classifications. The patient is a full-term female delivered uneventfully via normal vaginal delivery with unremarkable antenatal and fetal abnormality scans. Neuroimaging revealed a relatively focal dorsally located pontomedullary tumor. She subsequently underwent suboccipital craniotomy and biopsy of the lesion. Formal histopathology revealed features consistent with HGG. Methylation profiling classified the neoplasm closest to either "glioblastoma, IDH wildtype, subclass midline" or "pediatric type diffuse HGG". The patient's post-operative recovery was uneventful. The initial plan was to consider safe surgical debulking when the child reaches 6 months of age. However, subsequent neuroimaging revealed spontaneous tumor regression after biopsy, up to 2 years of age. A review of the literature was also performed to identify previously reported infantile brainstem HGGs and the management for such tumors.

CONCLUSIONS: Our case highlights the value of performing histopathological confirmation to guide management and the possible existence of a subcategory of a congenital brainstem HGG with better prognosis.

PMID:39295331 | DOI:10.21037/cco-24-ab013

Permalink for 'AB010. Analyzing Response Assessment in Neuro-Oncology (RANO) response criteria in WHO grade III anaplastic astrocytomas in comparison to clinician evaluation: a case report'

AB010. Analyzing Response Assessment in Neuro-Oncology (RANO) response criteria in WHO grade III anaplastic astrocytomas in comparison to clinician evaluation: a case report

Fetched: October 16th, 2024, 2:01am UTC by Dwita S Ratih

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB010. doi: 10.21037/cco-24-ab010.

ABSTRACT

BACKGROUND: Anaplastic astrocytoma [AA; World Health Organization (WHO) grade III] is a diffusely infiltrative astrocytic brain tumor with anaplasia and represents 3.3% of primary brain tumors. Overall, 5-year median survival can range from 22% to 50%, depending on various prognostic features, including the patient's age, tumor location and genetics, resection, etc. Given the higher grade and increased likelihood of transformation to WHO-grade IV tumors (glioblastomas), these tumors are generally treated aggressively upfront. Headache and seizures are the most common symptoms, occurring in about 50% of the cases. Other symptoms, including memory loss, motor weakness, language deficit, and cognitive and personality changes, occur in 20% of cases. Standard treatment involves surgical resection, radiotherapy, and chemotherapy, but treatment options are greatly limited for progression and recurrence. This paper highlights the case of a 48-year-old male who presents with chronic progressive cephalgia and a new-onset seizure. We review the diagnostic and therapeutic challenges associated with the treatment of AA.

CASE DESCRIPTION: We describe a patient who presented with chronic progressive cephalgia, gradual right-sided weakness, an asymmetrical face, slurred speech, and a new-onset focal-to-bilateral seizure. A cranial magnetic resonance imaging revealed a mass in the left frontoparietal region, causing herniation of the cerebri to the right. The patient had a maximal tumor resection, and the histopathology showed tissue sections containing tumors that were infiltrative in the stroma, forming a diffuse pattern consisting of proliferation of oval, round, polygonal, spindle, pleomorphic oval nucleated cells, hyperchromatic, some nucleoli appearing prominent, and cytoplasmaeosinophilic. There were areas of stromal necrosis and mitosis [3/10 high power field (HPF)]. The pathology result was reported with AA. The patient underwent concomitant chemoradiation and followed oral chemotherapy with temozolomid. Subsequent imaging revealed a significant decrease in the tumor's size and a resolution of the compression of the brain parenchyma underneath. The Response Assessment in Neuro-Oncology (RANO) evaluation showed partial responses with good clinical improvement.

CONCLUSIONS: The case presented an AA that was responsive to radiotherapy and temozolomid chemotherapy. Despite being rare, knowledge of this malignant tumor type and a multidisciplinary approach to case management are essential to optimizing treatment results.

PMID:39295328 | DOI:10.21037/cco-24-ab010

Permalink for 'AB009. Distinct clinical profiles and treatment outcomes in invasive pituitary adenoma and Crooke cell tumor: a comparative case report'

AB009. Distinct clinical profiles and treatment outcomes in invasive pituitary adenoma and Crooke cell tumor: a comparative case report

Fetched: October 16th, 2024, 2:01am UTC by Ying Yun Chen

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB009. doi: 10.21037/cco-24-ab009.

ABSTRACT

BACKGROUND: Pituitary adenomas, particularly invasive pituitary adenomas and Crooke cell tumors, represent significant neuroendocrine tumors with diverse clinical and pathological profiles. Invasive pituitary adenomas are known for their aggressive growth and potential to invade surrounding structures, leading to notable endocrine and neurological complications. Crooke cell tumors, a rare variant of corticotroph adenomas, are characterized by Crooke cells-basophilic cells with cytoplasmic changes due to prolonged glucocorticoid exposure. Although these tumors have aggressive histological features, their clinical behavior can vary widely, often determined by their proliferative index, such as Ki-67. This case report presents two patients with pituitary adenomas, highlighting the contrasting clinical courses, management strategies, and pathological findings.

CASE DESCRIPTION: Case 1 features a 42-year-old Asian male, initially diagnosed with a 3-cm pituitary macroadenoma at 23 years, experienced symptoms of blurred vision. Elevated adrenocorticotropic hormone (ACTH) levels were noted. Despite transnasal transsphenoidal surgery and subsequent interventions, including radiotherapy, the tumor recurred multiple times, leading to significant visual and neurological complications. Pathological assessments consistently showed an ACTH-positive adenoma with increasing markers of aggressiveness, including a Ki-67 index up to 5%. The patient was eventually diagnosed with Cushing's disease. Case 2 discusses a 56-year-old male who was incidentally found to have a pituitary tumor during a routine health check, with no visual symptoms despite optic nerve compression. Post-surgery, pathology revealed a Crooke cell tumor with a Ki-67 index of 1%. The patient had an uneventful recovery and no recurrence, with normal hormonal levels throughout follow-up.

CONCLUSIONS: These cases underscore the heterogeneity of pituitary adenomas, emphasizing the importance of the Ki-67 index as a prognostic marker. While invasive adenomas often require aggressive multimodal therapy, Crooke cell tumors with low proliferative indices can be effectively managed with surgery alone. A multidisciplinary approach is crucial for optimizing patient outcomes in the management of these tumors.

PMID:39295327 | DOI:10.21037/cco-24-ab009

Permalink for 'AB008. Intramedullary spinal cord metastases in breast cancer with multiple central nervous system (CNS) metastases: a case report'

AB008. Intramedullary spinal cord metastases in breast cancer with multiple central nervous system (CNS) metastases: a case report

Fetched: October 16th, 2024, 2:01am UTC by Ashifa Maulidya Shibly

Chin Clin Oncol. 2024 Aug;13(Suppl 1):AB008. doi: 10.21037/cco-24-ab008.

ABSTRACT

BACKGROUND: Although vertebral and epidural metastases are common, intramedullary metastases are rare. Intramedullary spinal cord metastases (ISCM) account for only 0.1-0.4% of metastasis tumors. About 26.5% of the tumour primaries are from breast cancer. Due to rapid neurological deficit deterioration, followed by short life expectancy, early diagnosis should be made to treat the tumor as any other central nervous system (CNS) metastases.

CASE DESCRIPTION: A 50-year-old woman with a history of invasive ductal breast carcinoma, T2N3M0, grade III, luminal B (ER and HER2 positive) subtype who had previously undergone a mastectomy, presented with 1 month onset of bilateral leg weakness and sphincter compromise. The symptoms preceded by a burning sensation in the buttocks radiate to both legs. There was a history of dizziness and diplopia. Neurological examination showed paraparesis with hyperreflexia, hypoesthesia below L1 dermatome distribution, lateral gaze palsy of the right eye and hemifacial sensory deficit. A whole spine magnetic resonance imaging (MRI) shows multiple intramedullar enhancing lesions at the level of C4, C6, T2-T7, conus medullaris, and cauda equina. Brain MRI revealed multiple lesions in left hemicerebellum and temporal lobe with diffuse meningeal enhancement. The patient completed 5-fractionated 20 Gy whole spine radiotherapy with corticosteroid as an adjunct, followed by 30 Gy whole brain radiotherapy. At the 2-month follow-up, the motor weakness worsened and her clinical condition continued to deteriorate with multiple systemic complications until she died 3 months after ISCM diagnosis.

CONCLUSIONS: ISCM is associated with aggressive progression. Only 1-year span from breast cancer until the patient is diagnosed with ISCM. Although CNS metastases are mostly found in HER2-positive breast cancers, data on ISCM is still limited. Most cases of ISCM have additional CNS metastases, leading to severe neurological deficits up to life-threatening conditions. A clear standard therapeutic protocol for ISCM has not yet been defined. Widespread metastasis and systemic disease progression were the main cause of death. The treatment goal is to preserve neurological function and improve patient's quality of life. Studies to generate evidence-based data with an algorithm to choose an appropriate treatment for ISCM is needed.

PMID:39295326 | DOI:10.21037/cco-24-ab008

Neurologic Symptoms After 177Lu-Prostate-Specific-Membrane Antigen-617 Therapy: A Single-Center Experience

Fetched: September 4th, 2024, 2:02am UTC by Gokce Belge Bilgin

J Nucl Med. 2024 Sep 3;65(9):1402-1408. doi: 10.2967/jnumed.124.267643.

ABSTRACT

Treatment with ¹⁷⁷Lu-prostate-specific membrane antigen (PSMA)-617 (¹⁷⁷Lu-vipivotide tetraxetan [Pluvicto]) prolongs both progression-free and overall survival in advanced PSMA-positive metastatic castration-resistant prostate cancer. Data examining specifically neurologic symptoms after ¹⁷⁷Lu-PSMA-617 treatment are scarce. In this study, we aimed to review the neurologic findings in a large cohort of metastatic castration-resistant prostate cancer patients undergoing ¹⁷⁷Lu-PSMA-617 therapy. Methods: The clinical records and imaging data of patients who received their initial dose of ¹⁷⁷Lu-PSMA-617 between March 2022 and November 2022 were retrospectively reviewed. All patients presenting for medical evaluation, regardless of specific specialty appointments, with new or worsening neurologic symptoms were included in the study. Results: A total of 185 patients underwent ¹⁷⁷Lu-PSMA-617 therapy. The median age was 70 y (range, 58-90 y). The mean follow-up time was 12.04 Â± 2.87 mo. Fifty-five new or worsening neurologic symptoms were observed in 50 patients (27%, 50/185). Of these, 27 (11.9%, 27/185) reported altered taste. Eleven patients (6%, 11/185) experienced dizziness with no other clear etiology; 2 of these patients were admitted to the emergency department (ED). Paresthesia symptoms were reported in 6 patients (3.2%, 6/185). Five patients (2.7%, 5/185) reported headaches, 3 of these patients were admitted to the ED because of the severity of the symptoms. Two patients (1.08%, 2/185) presented with extremity weakness. Two patients (1.08%, 2/185) had an ischemic stroke and were admitted to the ED. One patient (0.05%, 1/185) exhibited gait disturbances. In total, 7 patients (3.78%, 7/185) were admitted to the ED because of neurologic symptoms. None of the patients discontinued or failed to complete the ¹⁷⁷Lu-PSMA-617 therapy because of neurologic symptoms. Conclusion: After ¹⁷⁷Lu-PSMA-617 treatment, the most common neurologic symptoms were dysgeusia and dizziness. In this study, our follow-up period and population size might not have been sufficient to detect delayed or uncommon neurologic symptoms. In patients without neurologic symptoms or central nervous system metastases before treatment, we found the development of severe neurologic problems to be rare and unlikely to require discontinuation of treatment.

PMID:39089816 | DOI:10.2967/jnumed.124.267643

Permalink for 'Theranostic Intratumoral Convection-Enhanced Delivery of 124I-Omburtamab in Patients with Diffuse Intrinsic Pontine Glioma: Pharmacokinetics and Lesion Dosimetry'

Theranostic Intratumoral Convection-Enhanced Delivery of 124I-Omburtamab in Patients with Diffuse Intrinsic Pontine Glioma: Pharmacokinetics and Lesion Dosimetry

Fetched: September 4th, 2024, 2:02am UTC by Neeta Pandit-Taskar

J Nucl Med. 2024 Sep 3;65(9):1364-1370. doi: 10.2967/jnumed.123.266365.

ABSTRACT

Diffuse intrinsic pontine glioma (DIPG) is a rare childhood malignancy with poor prognosis. There are no effective treatment options other than external beam therapy. We conducted a pilot, first-in-human study using ¹²⁴I-omburtamab imaging and theranostics as a therapeutic approach using a localized convection-enhanced delivery (CED) technique for administering radiolabeled antibody. We report the detailed pharmacokinetics and dosimetry results of intratumoral delivery of ¹²⁴I-omburtamab. Methods: Forty-five DIPG patients who received 9.0-370.7 MBq of ¹²⁴I-omburtamab intratumorally via CED underwent serial brain and whole-body PET/CT imaging at 3-5 time points after injection within 4, 24-48, 72-96, 120-144, and 168-240 h from the end of infusion. Serial blood samples were obtained for kinetic analysis. Whole-body, blood, lesion, and normal-tissue activities were measured, kinetic parameters (uptake and clearance half-life times) estimated, and radiation-absorbed doses calculated using the OLINDA software program. Results: All patients showed prominent activity within the lesion that was retained over several days and was detectable up to the last time point of imaging, with a mean ¹²⁴I residence time in the lesion of 24.9 h and dose equivalent of 353 Â± 181 mSv/MBq. Whole-body doses were low, with a dose equivalent of 0.69 Â± 0.28 mSv/MBq. Systemic distribution and activities in normal organs and blood were low. Radiation dose to blood was very low, with a mean value of 0.27 Â± 0.21 mGy/MBq. Whole-body clearance was monoexponential with a mean biologic half-life of 62.7 h and an effective half-life of 37.9 h. Blood clearance was biexponential, with a mean biologic half-life of 22.2 h for the rapid Î± phase and 155 h for the slower Î² phase. Conclusion: Intratumoral CED of ¹²⁴I-omburtamab is a novel theranostics approach in DIPG. It allows for delivery of high radiation doses to the DIPG lesions, with high lesion activities and low systemic activities and high tumor-to-normal-tissue ratios and achieving a wide safety margin. Imaging of the actual therapeutic administration of ¹²⁴I-omburtamab allows for direct estimation of the therapeutic lesion and normal-tissue-absorbed doses.

PMID:39142829 | DOI:10.2967/jnumed.123.266365

$Permalink for 'Peptide Receptor Radionuclide Therapy in Advanced Refractory Meningiomas: Efficacy and Toxicity in a Long Follow-up'$

Peptide Receptor Radionuclide Therapy in Advanced Refractory Meningiomas: Efficacy and Toxicity in a Long Follow-up

Fetched: September 4th, 2024, 2:02am UTC by Stefano Severi

J Nucl Med. 2024 Sep 3;65(9):1409-1415. doi: 10.2967/jnumed.123.266956.

ABSTRACT

Recurrence of meningiomas after surgery and radiotherapy deserves specific attention because of the lack of active third-line therapies. Somatostatin receptors are usually overexpressed on the cell membrane of meningiomas, and this has led the way to a radionuclide theranostic approach. Diagnoses with ⁶⁸Ga-DOTA-octreotide and peptide receptor radionuclide therapy (PRRT) with ⁹⁰Y/¹⁷⁷Lu-DOTA-octreotide are currently possible options within experimental protocols or as compassionate use in small patient groups. Methods: From October 2009 to October 2021, 42 meningioma patients with radiologic recurrence after standard therapies were treated with ⁹⁰Y-DOTATOC (dosage of 1.1 or 5.5 GBq) or with ¹⁷⁷Lu-DOTATATE (dosage of 3.7 or 5.5 GBq) in a mean of 4 cycles. All patients showed intense uptake at diagnostic ⁶⁸Ga-DOTATOC PET/CT or in an ¹¹¹In-octreotide scan. Results: Of 42 patients treated, 5 patients received ⁹⁰Y-DOTATOC with a cumulative activity of 11.1 GBq and 37 patients received ¹⁷⁷Lu-DOTATATE with a cumulative activity of 22 GBq. The disease control rate was 57%. With a median follow-up of 63 mo, median progression-free survival was 16 mo, and median overall survival was 36 mo. Retreatment ¹⁷⁷Lu-PRRT was performed in 6 patients with an administered median activity of 13 GBq in a mean of 5 cycles. With a 75.8-mo follow-up, median progression-free survival and overall survival were 6.5 and 17 mo, respectively. Only 1 patient discontinued the treatment because of grade 3 platelet toxicity. A rapidly transient grade 2 neutropenia was recorded in 1 retreated patient. Conclusion: PRRT in patients with advanced meningiomas overexpressing somatostatin receptor 2 was active and well tolerated, showing a 57% disease control rate. Furthermore, PRRT could represent a potential retreatment option. Further studies, also in combination with other treatments, are warranted.

PMID:39142827 | DOI:10.2967/jnumed.123.266956

Permalink for 'Sintilimab (anti-PD-1 antibody) combined with high-dose methotrexate, temozolomide, and rituximab (anti-CD20 antibody) in primary central nervous system lymphoma: a phase 2 study'

Sintilimab (anti-PD-1 antibody) combined with high-dose methotrexate, temozolomide, and rituximab (anti-CD20 antibody) in primary central nervous system lymphoma: a phase 2 study

Fetched: September 4th, 2024, 2:02am UTC by Zhiyong Zeng

Signal Transduct Target Ther. 2024 Sep 4;9(1):229. doi: 10.1038/s41392-024-01941-x.

ABSTRACT

Primary central nervous system lymphoma (PCNSL) is a rare and frequently fatal lymphoma subtype. The programmed death-1 (PD-1) pathway has emerged as a potential therapeutic target, but the effectiveness of PD-1 antibody sintilimab in combination with immunochemotherapy as a frontline treatment for PCNSL remains to be determined. In this phase 2 trial (ChiCTR1900027433) with a safety run-in, we included patients aged 18-70 with newly diagnosed PCNSL. Participants underwent six 21-day cycles of a SMTR regimen, which includes sintilimab (200 mg, Day 0), rituximab (375 mg/m², Day 0), methotrexate (3.0 g/m², Day 1 or 1.0 g/m² for patients aged â‰¥65 years), and temozolomide (150 mg/m²/d, Days 1-5). Among 27 evaluable patients, the overall response rate (ORR) was 96.3% (95% confidence interval: 81-99.9%), with 25 complete responses. At a median follow-up of 24.4 months, the medians for duration of response, progression-free survival (PFS), and overall survival were not reached. The most common grade 3-4 treatment-related toxicities were increased levels of alanine aminotransferase (17.9%) and aspartate aminotransferase (14.3%). Additionally, baseline levels of interferon-Î± and the IL10/IL6 ratio in cerebrospinal fluid emerged as potential predictors of PFS, achieving areas under the curve of 0.88 and 0.84, respectively, at 2 years. Whole-exome sequencing revealed a higher prevalence of RTK-RAS and PI3K pathway mutations in the durable clinical benefit group, while a greater frequency of Notch and Hippo pathway mutations in the no durable benefit group. These findings suggest the SMTR regimen is highly efficacious and tolerable for newly diagnosed PCNSL, warranting further investigation.

PMID:39227388 | DOI:10.1038/s41392-024-01941-x

Prognostic Factors for Patients With primary gliosarcoma: A Single-Center Retrospective Study

Fetched: September 2nd, 2024, 2:01am UTC by Chen Li

World Neurosurg. 2024 Aug 29:S1878-8750(24)01497-9. doi: 10.1016/j.wneu.2024.08.128. Online ahead of print.

ABSTRACT

BACKGROUND: Primary gliosarcoma is a rare form of malignant central nervous system (CNS) tumor, with limited understanding regarding its prognostic determinants and effective therapeutic interventions.

METHODS: The medical records of patients diagnosed with gliosarcoma at Tangdu Hospital between March 2011 and June 2023 were retrospectively analyzed in this study. Patients with a prior history of glioma or those who received preoperative chemoradiotherapy were excluded. Survival analyses were conducted using Kaplan-Meier and Cox regression analysis.

RESULTS: A total of 77 patients were included in the final analysis with a median age of 57 years (range 13-83). The predominant symptom leading to diagnosis was headache, and the temporal lobe was the most frequently affected site. Univariate analysis revealed that age â‰¤ 65 years, complete resection, Ki67 â‰¤ 25%, postoperative Karnofsky Performance Status (KPS) â‰¥ 70, adherence to the Stupp protocol, and additional active therapy upon relapse were associated with enhanced survival. Furthermore, multivariate analysis identified complete resection, aged â‰¤ 65 years, Stupp protocol treatment, and active therapy following relapse were independent predictors of overall survival (OS). Notably, one patient experienced subcutaneous metastasis during treatment.

CONCLUSIONS: The present study's findings suggest that optimal management of primary gliosarcoma entails maximal safe resection, combined with adjuvant radiotherapy and chemotherapy with temozolomide, followed by salvage therapy in case of recurrence. However, the risk of metastases should be carefully monitored during the treatment course.

PMID:39216722 | DOI:10.1016/j.wneu.2024.08.128

A Patient Diagnosed With Rare Central Neurocytoma: A Case Report

Fetched: September 2nd, 2024, 2:01am UTC by Bilal ErtuÄŸrul

Neurol India. 2024 Jul 1;72(4):887-888. doi: 10.4103/neurol-india.Neurol-India-D-23-00667. Epub 2024 Aug 31.

NO ABSTRACT

PMID:39216055 | DOI:10.4103/neurol-india.Neurol-India-D-23-00667

Prolactin Secreting Pituitary Carcinoma and the Role of Peptide Receptor Radionuclide Therapy: A Brief Report

Fetched: September 2nd, 2024, 2:01am UTC by Nitish Agarwal

Neurol India. 2024 Jul 1;72(4):871-876. doi: 10.4103/neurol-india.Neurol-India-D-24-00529. Epub 2024 Aug 31.

ABSTRACT

PMID:39216050 | DOI:10.4103/neurol-india.Neurol-India-D-24-00529

Double-hit primary central nervous system lymphoma with histogenetically proven bone marrow infiltration: a case report and a review of the literature

Fetched: September 2nd, 2024, 2:01am UTC by Koki Onodera

Brain Tumor Pathol. 2024 Aug 31. doi: 10.1007/s10014-024-00490-z. Online ahead of print.

ABSTRACT

PMID:39215902 | DOI:10.1007/s10014-024-00490-z

Isolated primary CNS lymphoma after liver transplantation for autoimmune hepatitis: a case report

Fetched: September 1st, 2024, 2:01am UTC by Alaa Zayed

BMC Neurol. 2024 Aug 30;24(1):305. doi: 10.1186/s12883-024-03832-8.

ABSTRACT

PMID:39215224 | PMC:PMC11363406 | DOI:10.1186/s12883-024-03832-8

Concomitant spontaneous subdural and intracystic hematoma in arachnoid cyst: a case report and review of the literature

Fetched: September 1st, 2024, 2:01am UTC by Mohamed K Elkazaz

J Med Case Rep. 2024 Aug 29;18(1):414. doi: 10.1186/s13256-024-04570-8.

ABSTRACT

BACKGROUND: Intracystic hematoma in arachnoid cyst are a very rare pathology that commonly occurs after head trauma, while spontaneous intracystic hematomas in arachnoid cyst associated with subdural hematoma is extremely rare. Currently there are 33 patients of spontaneous intracystic hematomas in arachnoid cyst reported in the literature. In this case report we present an adult patient with concomitant chronic subdural hematoma with intracystic hematoma in arachnoid cyst.

CASE PRESENTATION: A 19-year-old Egyptian Arabian female patient presented to the outpatient clinic complaining of severe headache of 1-month duration that was progressive in nature. Provisionally, it was thought that it might be an arachnoid cyst with associated chronic subdural hematoma along with intracystic hematoma. Decision to proceed with craniotomy and cyst evacuation was made.

CONCLUSION: Concomitant intracystic hematoma in arachnoid cyst along with subdural hematoma is a serious condition that might be life-threatening if not well managed.

PMID:39210485 | PMC:PMC11363445 | DOI:10.1186/s13256-024-04570-8

Meningeal solitary fibrous tumor cell states phenocopy cerebral vascular development and homeostasis

Fetched: September 1st, 2024, 2:01am UTC by Kanish Mirchia

Neuro Oncol. 2024 Aug 29:noae172. doi: 10.1093/neuonc/noae172. Online ahead of print.

ABSTRACT

BACKGROUND: Meningeal solitary fibrous tumors (SFTs) are rare mesenchymal neoplasms that are associated with local recurrence and hematogenous metastasis. The cell states and spatial transcriptomic architecture underlying the unique clinical behavior of meningeal SFTs are unknown.

METHODS: Single-cell (n=4), spatial (n=8), and bulk RNA sequencing (n=22) was used to define the cell states and spatial transcriptomic architecture of meningeal SFTs across histological grades and in patient-matched pairs of primary/recurrent or intracranial/metastatic samples. Immunofluorescence, immunohistochemistry, and comparison of single-cell types to meningiomas, or to cerebral vascular development or homeostasis, were used for validation.

RESULTS: Here we show meningeal SFTs are comprised of regionally distinct gene expression programs that resemble cerebral vascular development or homeostasis. Single-cell trajectory analysis and pseudotemporal ordering of single-cells suggest that meningeal SFT cell fate decisions are dynamic and interchangeable. Cell-cell communication analyses demonstrate receptor-ligand interactions throughout the meningeal SFT microenvironment, particularly between SFT cells, endothelia, and immature neurons. Direct comparison of single-cell transcriptomes from meningeal SFTs versus meningiomas shows that SFT cells are enriched in expression of endothelial markers while meningiomas cells are enriched in expression of mural cells markers. Meningeal SFT spatial transcriptomes show regionally distinct intratumor heterogeneity in cell states, gene expression programs, and cell-cell interactions across WHO histological grades and in patient-matched pairs of primary/recurrent or intracranial/metastatic samples.

CONCLUSIONS: These results shed light on pathways underlying meningeal SFT biology in comparison to other central nervous system tumors and provide a framework for integrating single-cell, spatial, and bulk RNA sequencing data across human cancers and normal tissues.

PMID:39207122 | DOI:10.1093/neuonc/noae172

Permalink for 'Non-Small-Cell Lung Cancer Patients Harboring ROS1 Rearrangement: Real World Testing Practices, Characteristics and Treatment Patterns (ROS1REAL Study)'

Non-Small-Cell Lung Cancer Patients Harboring ROS1 Rearrangement: Real World Testing Practices, Characteristics and Treatment Patterns (ROS1REAL Study)

Fetched: August 29th, 2024, 2:01am UTC by Urska Janzic

Curr Oncol. 2024 Jul 30;31(8):4369-4381. doi: 10.3390/curroncol31080326.

ABSTRACT

ROS1 rearrangements are considered rare in non-small-cell lung cancer (NSCLC). This retrospective real-world study aimed to evaluate first-line treatment with crizotinib, a tyrosine kinase inhibitor (TKI) standard of care vs. new generation ROS1 anti-cancer agents. Forty-nine ROS1-expressing NSCLC patients, diagnosed with advanced metastatic disease, were included. Molecular profiling using either FISH/CISH or NGS was performed on tissue samples. Twenty-eight patients were treated with crizotinib, while fourteen patients were administered newer drugs (entrectinib, repotrectinib) and seven patients received platinum-doublet chemotherapy in a first-line setting. Overall response rate and disease control rate for the crizotinib and entrectinb/repotrectinib cohort were 68% and 82% vs. 86% and 93%, respectively. Median progression free survival was 1.6 years (95% CI 1.15-2.215) for the crizotinib treatment vs. 2.35 years for the entrectinib/repotrectinib cohort (95% CI 1.19-3.52). Central nervous system progression was noted in 20% and 25% of the crizotinib and entrectinib/repotrectinib cohorts, respectively. This multi-center study presents real-world treatment patterns of ROS1 NSCLC population, indicating that crizotinib exhibited comparable results to entrectinib/repotrectinib in a first-line setting, although both response rate and survival was numerically longer with treatment with newer agents.

PMID:39195309 | PMC:PMC11352911 | DOI:10.3390/curroncol31080326

First step results from a phase II study of a dendritic cell vaccine in glioblastoma patients (CombiG-vax)

Fetched: August 29th, 2024, 2:01am UTC by Laura Ridolfi

Front Immunol. 2024 Aug 13;15:1404861. doi: 10.3389/fimmu.2024.1404861. eCollection 2024.

ABSTRACT

PMID:39192978 | PMC:PMC11347333 | DOI:10.3389/fimmu.2024.1404861

Clinical characteristics of overlapping syndrome in patients with GFAP-IgG and MOG-IgG: a case series of 8 patients and literature review

Fetched: August 28th, 2024, 2:01am UTC by Ting Fang

J Neurol. 2024 Aug 27. doi: 10.1007/s00415-024-12633-5. Online ahead of print.

ABSTRACT

OBJECTIVE: The overlapping syndrome of anti-GFAP and anti-MOG antibodies is extremely rare. This retrospective study reports 8 adult cases of the GFAP-MOG overlapping syndrome.

PMID:39190107 | DOI:10.1007/s00415-024-12633-5

A comprehensive approach to lateral ventricular tumor resection: techniques, technologies, and outcomes

Fetched: August 28th, 2024, 2:01am UTC by Muhammad Ahmed

Neurosurg Rev. 2024 Aug 27;47(1):489. doi: 10.1007/s10143-024-02745-x.

ABSTRACT

PMID:39187658 | DOI:10.1007/s10143-024-02745-x

Intraventricular Glioblastomas: A Systematic Review of Multimodal Treatment Strategies

Fetched: August 27th, 2024, 2:02am UTC by Gianluca Scalia

Ann Ital Chir. 2024;95(4):416-434. doi: 10.62713/aic.3529.

ABSTRACT

PMID:39186332 | DOI:10.62713/aic.3529

Solitary fibrous tumor of the brain: A report of 3 cases

Fetched: August 27th, 2024, 2:02am UTC by Prerna Chadha

Oncol Lett. 2024 Aug 9;28(4):488. doi: 10.3892/ol.2024.14621. eCollection 2024 Oct.

ABSTRACT

PMID:39185491 | PMC:PMC11342408 | DOI:10.3892/ol.2024.14621

Retinol dehydrogenase 10 promotes epithelial-mesenchymal transition in spinal cord gliomas via PI3K/AKT pathway

Fetched: August 25th, 2024, 2:01am UTC by Zijun Zhao

Int J Immunopathol Pharmacol. 2024 Jan-Dec;38:3946320241276336. doi: 10.1177/03946320241276336.

ABSTRACT

PMID:39180753 | PMC:PMC11344904 | DOI:10.1177/03946320241276336

Permalink for 'Neuro-XAI: Explainable deep learning framework based on deeplabV3+ and bayesian optimization for segmentation and classification of brain tumor in MRI scans'

Neuro-XAI: Explainable deep learning framework based on deeplabV3+ and bayesian optimization for segmentation and classification of brain tumor in MRI scans

Fetched: August 25th, 2024, 2:01am UTC by Tallha Saeed

J Neurosci Methods. 2024 Oct;410:110247. doi: 10.1016/j.jneumeth.2024.110247. Epub 2024 Aug 10.

ABSTRACT

The prevalence of brain tumor disorders is currently a global issue. In general, radiography, which includes a large number of images, is an efficient method for diagnosing these life-threatening disorders. The biggest issue in this area is that it takes a radiologist a long time and is physically strenuous to look at all the images. As a result, research into developing systems based on machine learning to assist radiologists in diagnosis continues to rise daily. Convolutional neural networks (CNNs), one type of deep learning approach, have been pivotal in achieving state-of-the-art results in several medical imaging applications, including the identification of brain tumors. CNN hyperparameters are typically set manually for segmentation and classification, which might take a while and increase the chance of using suboptimal hyperparameters for both tasks. Bayesian optimization is a useful method for updating the deep CNN's optimal hyperparameters. The CNN network, however, can be considered a "black box" model because of how difficult it is to comprehend the information it stores because of its complexity. Therefore, this problem can be solved by using Explainable Artificial Intelligence (XAI) tools, which provide doctors with a realistic explanation of CNN's assessments. Implementation of deep learning-based systems in real-time diagnosis is still rare. One of the causes could be that these methods don't quantify the Uncertainty in the predictions, which could undermine trust in the AI-based diagnosis of diseases. To be used in real-time medical diagnosis, CNN-based models must be realistic and appealing, and uncertainty needs to be evaluated. So, a novel three-phase strategy is proposed for segmenting and classifying brain tumors. Segmentation of brain tumors using the DeeplabV3+ model is first performed with tuning of hyperparameters using Bayesian optimization. For classification, features from state-of-the-art deep learning models Darknet53 and mobilenetv2 are extracted and fed to SVM for classification, and hyperparameters of SVM are also optimized using a Bayesian approach. The second step is to understand whatever portion of the images CNN uses for feature extraction using XAI algorithms. Using confusion entropy, the Uncertainty of the Bayesian optimized classifier is finally quantified. Based on a Bayesian-optimized deep learning framework, the experimental findings demonstrate that the proposed method outperforms earlier techniques, achieving a 97 % classification accuracy and a 0.98 global accuracy.

PMID:39128599 | DOI:10.1016/j.jneumeth.2024.110247

Solitary fibrous tumor of the pineal gland: a case report and review of the literature

Fetched: August 24th, 2024, 2:01am UTC by Yixiao He

Front Oncol. 2024 Aug 8;14:1392540. doi: 10.3389/fonc.2024.1392540. eCollection 2024.

ABSTRACT

Solitary fibrous tumor (SFT) is a type of fibroblastic neoplasm that can occur in various parts of the body, with SFT of the pineal gland being exceedingly rare. We report the case of a 58-year-old male presenting with recurrent hiccups, acid reflux, and headache. Magnetic resonance imaging revealed an occupying lesion in the pineal region, suggestive of a neoplastic process. Intraoperatively, the lesion was located in the pineal region, exhibiting a grayish-red color, and was largely resected. Pathological examination confirmed the diagnosis of solitary fibrous tumor (CNS WHO Grade 1). Postoperatively, the patient was supplemented with radiotherapy, and long-term follow-up showed no signs of recurrence or metastasis.

PMID:39175476 | PMC:PMC11338914 | DOI:10.3389/fonc.2024.1392540

"Masks" of CNS demyelinating diseases. Primary lymphoma

Fetched: August 24th, 2024, 2:01am UTC by A O Kozlova

Zh Nevrol Psikhiatr Im S S Korsakova. 2024;124(7. Vyp. 2):101-108. doi: 10.17116/jnevro2024124072101.

ABSTRACT

PMID:39175248 | DOI:10.17116/jnevro2024124072101

Disseminated ependymal dysembryoplastic neuroepithelial tumor: a case report and literature review

Fetched: August 23rd, 2024, 2:01am UTC by Yu V Kushel

Zh Vopr Neirokhir Im N N Burdenko. 2024;88(4):92-99. doi: 10.17116/neiro20248804192.

ABSTRACT

CONCLUSION: To date, disseminated forms of DNET are extremely rare. X-ray features and morphological results allow us to establish the correct diagnosis and determine further treatment strategy.

PMID:39169587 | DOI:10.17116/neiro20248804192

Stereotactic high-dose irradiation for intramedullary metastases

Fetched: August 23rd, 2024, 2:01am UTC by Ya E Goncharov

Zh Vopr Neirokhir Im N N Burdenko. 2024;88(4):22-30. doi: 10.17116/neiro20248804122.

ABSTRACT

Intramedullary metastases (IMM) lead to severe neurological symptoms. They are extremely rare in clinical practice. Optimal management of such patients is not clearly defined. Surgery, chemo- and radiotherapy are the main options.

OBJECTIVE: To study the results of stereotactic high-dose irradiation for IMM considering local control of metastases, neurological status and life expectancy.

MATERIAL AND METHODS: Nineteen patients with 29 IMMs underwent high-dose irradiation (Cyber Knife G4 and TrueBeam STx devices) between 2016 and 2022. There were 1-10 fractions, radiation dose 14.0-35.0 Gy with isodose 70-100%. Local control and new spinal cord metastases were assessed using contrast-enhanced MRI. Clinical status and neurological functions were assessed using the Karnofsky and McCormick scales.

RESULTS: Local control rates were 91% and 78% after 6 and 12 months, respectively. Overall survival after treatment was 7.3 months, 6- and 12-month overall survival - 58% and 37%, respectively. In addition, 8 patients were available for follow-up. Of these, 6 ones demonstrated improvement or stabilization of neurological function after treatment. The main cause of death was progression of the underlying disease. No significant treatment-related toxic effects were observed.

CONCLUSION: High-dose irradiation is a safe, effective and time-saving treatment for IMM. Considering unadvisable surgical methods and chemotherapy for this pathology, we can recommend high-dose irradiation for patients with spinal cord metastases.

PMID:39169578 | DOI:10.17116/neiro20248804122

Cerebellar abscess secondary to metastatic lung adenocarcinoma: a case report

Fetched: August 23rd, 2024, 2:01am UTC by Hamza Ahmed

J Med Case Rep. 2024 Aug 22;18(1):389. doi: 10.1186/s13256-024-04722-w.

ABSTRACT

PMID:39169419 | PMC:PMC11340145 | DOI:10.1186/s13256-024-04722-w

The role of postoperative blood pressure management in early postoperative hemorrhage in awake craniotomy glioma patients

Fetched: August 22nd, 2024, 2:01am UTC by Matthias Demetz

Neurosurg Rev. 2024 Aug 22;47(1):452. doi: 10.1007/s10143-024-02661-0.

ABSTRACT

PMID:39168945 | PMC:PMC11339099 | DOI:10.1007/s10143-024-02661-0

A woman in her thirties with confusion

Fetched: August 22nd, 2024, 2:01am UTC by Margrethe Aase Schaufel

Tidsskr Nor Laegeforen. 2024 Jul 18;144(9). doi: 10.4045/tidsskr.23.0344. Print 2024 Aug 20.

ABSTRACT

BACKGROUND: Coercion is rare in cancer treatment. We present a case where a young woman received gamma knife radiosurgery and immunochemotherapy under compulsory institutional care.

PMID:39167002 | DOI:10.4045/tidsskr.23.0344

Case report: A mesenchymal chondrosarcoma with alternative HEY1::NCOA2 fusions in the sella turcica

Fetched: August 22nd, 2024, 2:01am UTC by Satsuki Kishikawa

Pathol Oncol Res. 2024 Aug 6;30:1611730. doi: 10.3389/pore.2024.1611730. eCollection 2024.

ABSTRACT

INTRODUCTION: Mesenchymal chondrosarcoma (MCS) is a rare subtype of chondrosarcoma that occurs at widespread anatomical locations, such as bone, soft tissue, and intracranial sites. The central nervous system (CNS) is one of the most common origins of extraosseous MCS. However, alternative HEY1::NCOA2 fusions have not been reported in this tumor.

CASE REPORT: We report a case of intracranial MCS with HEY1::NCOA2 rearrangement. A 52-year-old woman presented with a 15-mm calcified mass around the sella turcica. She initially underwent transsphenoidal surgery for tumor resection and then additional resections for five local recurrences over 5 years. Histologically, the tumor was composed of small round to spindle-shaped cells admixed with well-differentiated hyaline cartilaginous islands. A hemangiopericytoma-like vascular pattern and small sinusoid-like vessels were also observed. RNA sequencing using RNA extracted from formalin-fixed paraffin-embedded samples from the last operation revealed two alternative variants of the HEY1::NCOA2 fusion: HEY1(ex4)::NCOA2 (ex13) and HEY1(ex4)::NCOA2(ex14). Both variants were confirmed as in-frame fusions using reverse transcription-polymerase chain reaction.

DISCUSSION: Cartilaginous components were often not apparent during the recurrences. In addition to the non-typical pathological finding, the correct diagnosis was hampered by the poor RNA quality of the surgical specimens and non-specific STAT6 nuclear staining.

CONCLUSION: This is the first reported case of intracranial MCS with an alternative HEY1::NCOA2 fusion.

PMID:39165647 | PMC:PMC11333213 | DOI:10.3389/pore.2024.1611730

Clear cell meningioma of the filum terminale in a 44-year-old woman - case report

Fetched: August 22nd, 2024, 2:01am UTC by Piotr Glinka

Folia Neuropathol. 2024 Aug 21:52682. doi: 10.5114/fn.2024.136476. Online ahead of print.

ABSTRACT

Clear cell meningioma (CCM) is a rare subtype of meningioma, especially unusual as a neoplasm of the filum terminale. Clear cell meningioma seems to have a more aggressive nature and a higher risk of recurrence than WHO grade I meningiomas. A 44-year-old woman presented with lower back pain radiating to the left leg and mild weakness in the left leg. Magnetic resonance imaging (MRI) showed a well-demarcated, intradural lesion filling the spinal canal at the L3-S1 levels and compressing the cauda equina. The patient underwent laminectomy from L3 to S1. During the operation, the filum terminale was identified as a structure that was disappearing into the tumor. The filum terminale was cut and the tumor was totally removed in one piece. Pathological findings were indicative of the diagnosis of clear cell meningioma, CNS WHO G2. Postoperative magnetic resonance imaging at 6 months showed no residual mass. Total surgical excision of the CCM of the spinal cord should be chosen as the optimal treatment. In addition, radiological follow-up is equally important due to the high risk of recurrence. Our case is unusual in that the tumor's location was the filum terminale.

PMID:39165212 | DOI:10.5114/fn.2024.136476

Hemangioblastoma

Fetched: August 22nd, 2024, 2:01am UTC by Muhammad M. Khan

2024 Aug 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Janâ€“.

ABSTRACT

PMID:39163468 | Bookshelf:NBK606126

Extraconal orbital craniopharyngioma

Fetched: August 20th, 2024, 2:01am UTC by Soundarya Samskruthi Koyya

BMJ Case Rep. 2024 Aug 19;17(8):e258652. doi: 10.1136/bcr-2023-258652.

ABSTRACT

PMID:39159984 | DOI:10.1136/bcr-2023-258652

BRAF and MEK inhibitor targeted therapy in papillary craniopharyngiomas: a cohort study

Fetched: August 20th, 2024, 2:01am UTC by Dario De Alcubierre

Eur J Endocrinol. 2024 Aug 5;191(2):251-261. doi: 10.1093/ejendo/lvae091.

ABSTRACT

DESIGN: Retrospective French multicenter study involving BRAF V600E-mutated PCP patients, treated with BRAF/MEK inhibitor combination dabrafenib and trametinib, from April 2019 to July 2023.

METHODS: Objective response and clinical and safety outcomes were assessed after 3 months and at the last available follow-up during TT.

PMID:39158090 | DOI:10.1093/ejendo/lvae091

Role of poly-ADP-ribose polymerase inhibitors after brain progression in platinum-sensitive ovarian cancer: a case report and review of the literature

Fetched: August 20th, 2024, 2:01am UTC by Gonzalo Lendinez-Sanchez

Front Oncol. 2024 Aug 2;14:1423992. doi: 10.3389/fonc.2024.1423992. eCollection 2024.

ABSTRACT

PMID:39156698 | PMC:PMC11327502 | DOI:10.3389/fonc.2024.1423992

Middle Ear Cholesteatoma

Fetched: August 20th, 2024, 2:01am UTC by Kenneth L. Kennedy

2024 Aug 9. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Janâ€“.

ABSTRACT

Cholesteatoma is a misleading term (misnomer) that suggests the presence of "chole" (cholesterol) or "steat" (fat), neither of which are found in these lesions. Coined by Johannes MÃ¼ller in 1863 to describe a primary tumor of adipose tissue, cholesteatomas are actually noncancerous but can be potentially destructive growths. They typically develop in the pneumatized portions of the temporal bone, such as the middle ear and mastoid, and are rarely found in the ear canal.

Cholesteatoma can be either an epidermoid cyst arising from aberrant embryonic nests in the congenital form or a benign, expanding tumor of keratinizing squamous epithelium that may cause locoregional inflammation, infection, and destruction. The exact origins of congenital cholesteatomas remain uncertain, with no universally accepted theory. Acquired cholesteatomas, further categorized into primary-acquired and secondary-acquired, will be the focus of this activity.

Primary-acquired cholesteatomas develop due to pressure changes in the middle ear that cause tympanic membrane retraction, often as a result of eustachian tube dysfunction following chronic otitis media. This retraction can damage the ossicles and erosion of the tegmen mastoideum. In contrast, secondary-acquired cholesteatomas arise from direct injury to the tympanic membrane, typically caused by infection or trauma. Both types of acquired cholesteatomas present significant challenges in diagnosis, treatment, and management due to their insufficient blood supply.

Common signs include progressive hearing loss and persistent foul-smelling otorrhea that is resistant to medical therapy. Acquired cholesteatomas can damage the hearing mechanism, specifically the tympanic membrane and ossicles, disrupt eustachian tube function, erode the tegmen mastoideum, cause dehiscence of the facial nerve, alter vestibular function, and, in rare cases, lead to central nervous system (CNS) complications. Systemic treatments such as antibiotics and steroids are often ineffective. Due to the layering effect of keratinizing squamous debris and drainage, topical treatments, including antibiotics, steroids, or antifungal agents, typically offer only transient or superficial relief.

PMID:28846338 | Bookshelf:NBK448108

Permalink for 'Targeted multiplex validation of CSF proteomic biomarkers: implications for differentiation of PCNSL from tumor-free controls and other brain tumors'

Targeted multiplex validation of CSF proteomic biomarkers: implications for differentiation of PCNSL from tumor-free controls and other brain tumors

Fetched: August 16th, 2024, 2:01am UTC by Jingjing Ma

Front Immunol. 2024 Aug 1;15:1343109. doi: 10.3389/fimmu.2024.1343109. eCollection 2024.

ABSTRACT

INTRODUCTION: Primary central nervous system lymphoma (PCNSL) is a rare type of non-Hodgkin's lymphoma that affects brain parenchyma, eyes, cerebrospinal fluid, and spinal cord. Diagnosing PCNSL can be challenging because imaging studies often show similar patterns as other brain tumors, and stereotactic brain lesion biopsy conformation is invasive and not always possible. This study aimed to validate a previous proteomic profiling (PMID: 32610669) of cerebrospinal fluid (CSF) and develop a CSF-based proteomic panel for accurate PCNSL diagnosis and differentiation.

METHODS: CSF samples were collected from patients of 30 PCNSL, 30 other brain tumors, and 31 tumor-free/benign controls. Liquid chromatography tandem-mass spectrometry targeted proteomics analysis was used to establish CSF-based proteomic panels.

RESULTS: Final proteomic panels were selected and optimized to diagnose PCNSL from tumor-free controls or other brain tumor lesions with an area under the curve (AUC) of 0.873 (95%CI: 0.723-0.948) and 0.937 (95%CI: 0.807- 0.985), respectively. Pathways analysis showed diagnosis panel features were significantly enriched in pathways related to extracellular matrices-receptor interaction, focal adhesion, and PI3K-Akt signaling, while prion disease, mineral absorption and HIF-1 signaling were significantly enriched with differentiation panel features.

DISCUSSION: This study suggests an accurate clinical test panel for PCNSL diagnosis and differentiation with CSF-based proteomic signatures, which may help overcome the challenges of current diagnostic methods and improve patient outcomes.

PMID:39144147 | PMC:PMC11322575 | DOI:10.3389/fimmu.2024.1343109

Understanding Adult Central Nervous System Hemangioblastomas: meta-analysis of meta-analysis

Fetched: August 13th, 2024, 2:01am UTC by Dragan Jankovic

World Neurosurg. 2024 Aug 10:S1878-8750(24)01393-7. doi: 10.1016/j.wneu.2024.08.032. Online ahead of print.

ABSTRACT

INTRODUCTION: Adult hemangioblastomas are rare WHO central nervous system (CNS) Grade 1 tumors particularly affecting the posterior cranial fossa. They exhibit a gender bias, impacting men in their fifth and sixth decades of life and manifesting sporadically or as part of von Hippel Lindau (VHL) disease. Understanding the intricacies of CNS hemangioblastomas is crucial for clinical decision-making.

METHODS: A systematic review of 576 articles was conducted following PRISMA guidelines. Eligibility criteria included 3189 adult cases of CNS hemangioblastomas. Data on patient demographics, tumor characteristics, symptoms, treatment modalities, complications, and outcomes were systematically extracted and synthesized.

RESULTS: The review revealed a heterogeneous demographic distribution, with a male predominance. Median age at diagnosis was 44.7 years. Cranial hemangioblastomas were more commonly located in the infratentorial (73 %) than supratentorial (27%) compartments. Spinal hemangioblastomas were mostly located in the cervical spine (44.3 %), followed by thoracic (36.7 %) and lumbar spine (12 %). Clinical symptoms varied by location, emphasizing the importance of anatomical considerations. Surgical intervention-total resection (82% of cases)-was the preferred treatment modality, while radiotherapy was less common. Histological examination and immunohistochemistry aided in accurate diagnosis. Complications were location-specific, with intracranial complications more common in infratentorial tumors. Overall, favorable outcomes were prevalent (78% of cases), with low mortality rates.

CONCLUSION: Adult CNS hemangioblastomas present with diverse characteristics and clinical manifestations. Surgical intervention remains the mainstay treatment; ongoing research into genetic and molecular mechanisms may enhance our understanding of tumor pathology and lead to improved management strategies in the future.

PMID:39134299 | DOI:10.1016/j.wneu.2024.08.032

Permalink for 'Recurrent adamantinomatous craniopharyngiomas show MAPK pathway activation, clonal evolution and rare TP53-loss-mediated malignant progression'

Recurrent adamantinomatous craniopharyngiomas show MAPK pathway activation, clonal evolution and rare TP53-loss-mediated malignant progression

Fetched: August 12th, 2024, 2:01am UTC by John R Apps

Acta Neuropathol Commun. 2024 Aug 10;12(1):127. doi: 10.1186/s40478-024-01838-4.

ABSTRACT

The two types of craniopharyngioma, adamantinomatous (ACP) and papillary (PCP), are clinically relevant tumours in children and adults. Although the biology of primary craniopharyngioma is starting to be unravelled, little is known about the biology of recurrence. To fill this gap in knowledge, we have analysed through methylation array, RNA sequencing and pERK1/2 immunohistochemistry a cohort of paired primary and recurrent samples (32 samples from 14 cases of ACP and 4 cases of PCP). We show the presence of copy number alterations and clonal evolution across recurrence in 6 cases of ACP, and analysis of additional whole genome sequencing data from the Children's Brain Tumour Network confirms chromosomal arm copy number changes in at least 7/67 ACP cases. The activation of the MAPK/ERK pathway, a feature previously shown in primary ACP, is observed in all but one recurrent cases of ACP. The only ACP without MAPK activation is an aggressive case of recurrent malignant human craniopharyngioma harbouring a CTNNB1 mutation and loss of TP53. Providing support for a functional role of this TP53 mutation, we show that Trp53 loss in a murine model of ACP results in aggressive tumours and reduced mouse survival. Finally, we characterise the tumour immune infiltrate showing differences in the cellular composition and spatial distribution between ACP and PCP. Together, these analyses have revealed novel insights into recurrent craniopharyngioma and provided preclinical evidence supporting the evaluation of MAPK pathway inhibitors and immunomodulatory approaches in clinical trials in against recurrent ACP.

PMID:39127699 | PMC:PMC11316312 | DOI:10.1186/s40478-024-01838-4

Acute acquired comitant esotropia associated with Lhermitte-Duclos disease: a case report

Fetched: August 12th, 2024, 2:01am UTC by Junya Ota

J Med Case Rep. 2024 Aug 11;18(1):365. doi: 10.1186/s13256-024-04683-0.

ABSTRACT

BACKGROUND: Acute acquired comitant esotropia caused by prolonged near work, such as the use of digital devices, has been frequently reported in recent years. However, intracranial examination is necessary even for patients with nonparalytic comitant esotropia. Lhermitte-Duclos disease is a rare tumor that grows in layers in the cerebellum. Among those with this disease, cases of esotropia have been reported due to abduction limitation of the eye, but there have been no reports of comitant esotropia. Here, we report the case of a young woman with acute acquired comitant esotropia who was found to have Lhermitte-Duclos disease.

CASE PRESENTATION: A 16-year-old Japanese female patient, whose ethnicity was Asian, was referred to our hospital for acute acquired comitant esotropia. Fundus examination revealed papilledema in both eyes, and magnetic resonance imaging of the head revealed a cerebellar tumor in the right cerebellum with obstructive hydrocephalus. She underwent partial tumor resection, and a histopathological diagnosis of Lhermitte-Duclos disease was obtained. However, comitant esotropia status remained unchanged, and she underwent strabismus surgery. Finally, diplopia disappeared completely.

CONCLUSION: Neurological and intracranial imaging examinations are essential when acute acquired comitant esotropia is observed. Acute acquired comitant esotropia by Lhermitte-Duclos disease did not improve with partial tumor resection and required strabismus surgery, but good surgical results were obtained.

PMID:39127687 | PMC:PMC11316971 | DOI:10.1186/s13256-024-04683-0

Primary intraspinal neuroendocrine tumor: A case report and literature review

Fetched: August 10th, 2024, 2:01am UTC by Li Dai

Medicine (Baltimore). 2024 Aug 9;103(32):e39196. doi: 10.1097/MD.0000000000039196.

ABSTRACT

RATIONALE: Neuroendocrine tumors (NET) refer to a group of uncommon tumors arising in the neuroendocrine system. Most NETs occur in the digestive tract and bronchi but are rare in the central nervous system, especially in the spinal canal. NET in the central nervous system mainly metastasize from other systems, with non-specific clinical symptoms. In this study, we report the diagnosis and treatment of intraspinal NET to provide clinical guidance as well as to avoid misdiagnosis and missed diagnosis.

PATIENT CONCERNS: A 59-year-old male patient, presented with recurrent right lower limb pain for half a year, accompanied by numbness and weakness for 4 months and aggravation for 2 months. Lumbar spine magnetic resonance imaging (MRI) revealed a space-occupying lesion in the spinal canal. The diagnosis of primary intraspinal NET was confirmed by topathological examination.

DIAGNOSIS: Primary intraspinal NET tumor.

INTERVENTIONS: Surgical resection.

OUTCOMES: Significant improvements in right lower limb pain, numbness, and weakness were observed, and lumbar spine MRI was performed again to dynamically observe the changes in intraspinal NET.

CONCLUSIONS: Surgical resection may be an effective treatment for intraspinal NETs.

LESSONS: Intraspinal NETs are relatively rare and mostly manifest as limb numbness, weakness, and pain. Due to its nonspecific clinical symptoms, intraspinal NETs are easily misdiagnosed as lumbar disc herniation with radiculopathy and lumbar spondylolisthesis. Therefore, in patients with long-term symptoms, in addition to common lumbar neuromuscular diseases, lumbar MRI should be performed promptly to exclude the possibility of lumbar NETs.

PMID:39121254 | PMC:PMC11315503 | DOI:10.1097/MD.0000000000039196

A rare association of pheochromocytoma, paraganglioma, and pituitary adenoma (3PA): A case report and literature review

Fetched: August 10th, 2024, 2:01am UTC by Rahem Rahmati

Medicine (Baltimore). 2024 Aug 9;103(32):e38928. doi: 10.1097/MD.0000000000038928.

ABSTRACT

RATIONALE: 3P association (3PA) is a rare condition with co-occurrence of pituitary adenoma and pheochromocytoma/paraganglioma. There have been less than a hundred documented cases of 3PA, which can be sporadic or related to genetic mutations. The present case report describes the first Iranian patient with 3PA and a 90th case of 3PA in the available literature.

PATIENT CONCERNS AND INTERVENTIONS: A 36-year-old Caucasian male was admitted with headache and sudden increase in blood pressure. An abdominal CT scan revealed a retroperitoneal mass posterior to the inferior vena cava, later removed and diagnosed as a pheochromocytoma. Four years later, he noticed occasional mild headaches and a painless mass on the right side of his neck. The ultrasonography evaluations suggested a carotid body tumor, which was surgically removed. About a month after his second surgery, the severity of the patient's headaches worsened, and he developed right homonymous hemianopia. A brain MRI showed a mass in favor of macroadenoma, craniopharyngioma, or meningioma, and elevated prolactin level led to the diagnosis of macroprolactinoma.

DIAGNOSES: Based on the provided history, this patient was diagnosed with 3PA, and a genetic study identified a positive succinate-dehydrogenase-complex subunit b mutation, possibly linked to his family history of carotid body tumor.

OUTCOMES: He has remained symptom-free during his visits every 3 months.

LESSONS: The number of cases diagnosed with 3PA worldwide is increasing. Using clinical and genetic assessments, we can timely diagnose and adequately monitor individuals with or at risk of 3PA.

PMID:39121253 | PMC:PMC11315567 | DOI:10.1097/MD.0000000000038928

Permalink for 'Treatment of intracranial inflammatory myofibroblastic tumor with PD-L1 inhibitor and novel oncolytic adenovirus Ad-TD-nsIL12: a case report and literature review'

Treatment of intracranial inflammatory myofibroblastic tumor with PD-L1 inhibitor and novel oncolytic adenovirus Ad-TD-nsIL12: a case report and literature review

Fetched: August 9th, 2024, 2:01am UTC by Xiao Qian

Front Immunol. 2024 Jul 24;15:1427554. doi: 10.3389/fimmu.2024.1427554. eCollection 2024.

ABSTRACT

Inflammatory myofibroblastic tumor (IMT) is a rare pathological entity first described in 1939. This lesion is most commonly found in the lungs, but cases involving other systems, such as the central nervous system known as intracranial IMT (IIMT), have also been reported. Diagnosis currently relies on pathological results due to the lack of characteristic imaging changes. Surgical resection is an effective treatment, though the disease is invasive and may recur. Previous literature has reported a high level of programmed death 1 (PD-1) expression in IMT tissues, suggesting that immunotherapy may be effective for this condition. In this case report, we present a middle-aged male who received PD-1 inhibitor and oncolytic adenovirus (Ad-TD-nsIL12) treatment after IIMT resection surgery. This successful approach provides a new direction for the treatment of IIMT.

PMID:39114662 | PMC:PMC11303231 | DOI:10.3389/fimmu.2024.1427554

Multi-omics and pharmacological characterization of patient-derived glioma cell lines

Fetched: August 8th, 2024, 2:01am UTC by Min Wu

Nat Commun. 2024 Aug 8;15(1):6740. doi: 10.1038/s41467-024-51214-y.

ABSTRACT

Glioblastoma (GBM) is the most common brain tumor and remains incurable. Primary GBM cultures are widely used tools for drug screening, but there is a lack of genomic and pharmacological characterization for these primary GBM cultures. Here, we collect 50 patient-derived glioma cell (PDGC) lines and characterize them by whole genome sequencing, RNA sequencing, and drug response screening. We identify three molecular subtypes among PDGCs: mesenchymal (MES), proneural (PN), and oxidative phosphorylation (OXPHOS). Drug response profiling reveals that PN subtype PDGCs are sensitive to tyrosine kinase inhibitors, whereas OXPHOS subtype PDGCs are sensitive to histone deacetylase inhibitors, oxidative phosphorylation inhibitors, and HMG-CoA reductase inhibitors. PN and OXPHOS subtype PDGCs stably form tumors in vivo upon intracranial transplantation into immunodeficient mice, whereas most MES subtype PDGCs fail to form tumors in vivo. In addition, PDGCs cultured by serum-free medium, especially long-passage PDGCs, carry MYC/MYCN amplification, which is rare in GBM patients. Our study provides a valuable resource for understanding primary glioma cell cultures and clinical translation and highlights the problems of serum-free PDGC culture systems that cannot be ignored.

PMID:39112531 | PMC:PMC11306361 | DOI:10.1038/s41467-024-51214-y

Malignant Transformation of Meningioma With TERT Promoter Mutation: A Case Report

Fetched: August 8th, 2024, 2:01am UTC by Yoontae Hong

Brain Tumor Res Treat. 2024 Jul;12(3):192-199. doi: 10.14791/btrt.2024.0023.

ABSTRACT

High-grade meningiomas make up a relatively minor proportion of meningiomas, which are one of the most common types of primary intracranial tumors in adults. Though rare, a considerable portion of high-grade meningiomas arise from malignant transformation of benign meningiomas. The 2021 World Health Organization (WHO) classification criteria introduced molecular markers in the diagnosis and grading of central nervous system (CNS) tumors and assigned certain genomic mutations to grade 3 meningiomas. We report a case of a 54-year-old male patient who underwent stepwise malignant transformation of meningioma from WHO grade 1 to grade 3 within 10 years, during the course of five surgeries followed by adjuvant stereotactic radiosurgery and radiotherapy. We performed next-generation sequencing (NGS) on the most recent grade 3 meningioma specimen and found that it carried a telomerase reverse transcriptase promoter (TERTp) mutation (c.-124C>T) in accordance with the 2021 WHO criteria for grade 3 meningiomas. We then retrospectively examined the previous grade 1 and 2 specimens and found them to have the same mutation. We reviewed the significance of molecular markers in the diagnosis of meningiomas, possible genetic alterations associated with their malignant transformation, and what measures could be taken to effectively manage meningiomas considering NGS findings.

PMID:39109621 | PMC:PMC11306841 | DOI:10.14791/btrt.2024.0023

Efficacy of BRAF/MEK-inhibitor therapy for epithelioid glioblastoma with a novel BRAFV600 mutation

Fetched: August 8th, 2024, 2:01am UTC by J Steininger

Acta Neuropathol Commun. 2024 Aug 6;12(1):124. doi: 10.1186/s40478-024-01834-8.

ABSTRACT

Epithelioid glioblastoma (eGB), a very aggressive and rare brain tumour, is associated with a dismal median overall survival. Effective therapies for patients with eGB, particularly with leptomeningeal dissemination, are still lacking. Here, we describe a case of a 25-year-old male diagnosed with an intramedullary cervical tumour with subsequent leptomeningeal disease. Histopathology identified a highly necrotising, epithelioid-type tumour with high cell density, most compatible with the diagnosis of an eGB. DNA analysis revealed an unprecedented B-Raf protooncogene, serine/threonine kinase (BRAF) gene variant in exon 15 (ENST00000288602.6, c.1799_1810delinsATG, p.(V600_W604delinsDG)), triggering activation of the mitogen-activated protein kinase (MAPK) pathway. Consequently, we initiated MAPK inhibitor (MAPKi) therapy, utilizing a combination of BRAF and mitogen-activated protein kinase kinase (MEK) inhibitors. Liquid chromatography-tandem mass spectrometry analysis confirmed the drugs' presence in the patient's cerebrospinal fluid, indicating their capacity to cross the blood-brain barrier. Remarkably, the patient responded very well to therapy and transitioned from a near-comatose state to significantly improved health, sustained for over three months. This study highlights that MAPKi, particularly targeted towards novel BRAFV600 mutations, might offer promising advancements in eGB treatment strategies.

PMID:39107839 | PMC:PMC11302837 | DOI:10.1186/s40478-024-01834-8

Permalink for 'Clinical characteristics and outcome of early-stage diffuse large B cell lymphoma of female genital track: A retrospective study of the Hellenic cooperative lymphoma group'

Clinical characteristics and outcome of early-stage diffuse large B cell lymphoma of female genital track: A retrospective study of the Hellenic cooperative lymphoma group

Fetched: August 7th, 2024, 2:01am UTC by Evgenia Verrou

Hematol Oncol. 2024 Sep;42(5):e3303. doi: 10.1002/hon.3303.

ABSTRACT

Involvement of female genital track (FGT) by diffuse large B cell lymphoma (DLBCL) represents an extremely rare diagnosis. Especially data regarding early-stage disease (i.e., IE, IIE) is very limited. Importantly, previous studies showed controversial results about the risk of central nervous system (CNS) relapse in this entity. Herein, we describe one of the largest reported real-world series of patients with early-stage FGT DLBCL aiming to investigate the clinicopathological characteristics, response to therapy and survival outcomes in the era of immunochemotherapy. We analyzed 21 consecutive patients with biopsy proven DLBCL from uterus or ovary classified as stage IE or IIE out of 1905 newly diagnosed DLBCL patients (1.1%). Uterine and ovarian localization was observed in 14 and seven patients, respectively. Median age was 66 years (range 33-96); 9/21 (43%) were <55 years. Regarding Cell of Origin DLBCL subtype, Germinal Center B-cell subtype was found in seven patients, non-GCB in 10 and non-classified in 4 patients. Median follow-up was 57 months and 5-year overall survival, lymphoma specific survival and Freedom from Progression were 78%, 89% and 90%, respectively. There was no correlation of patients' characteristics with survival parameters. Interestingly, none of the patients experienced CNS relapse. Our results indicate that localized FGT DLBCL exhibits a good prognosis and may not increase the risk for secondary CNS involvement.

PMID:39105590 | DOI:10.1002/hon.3303

Permalink for 'Identifying associations between sample characteristics, symptoms, and self-efficacy differences in adult patients with rare tumors of the central nervous system who participated in a novel web-based natural history study'

Identifying associations between sample characteristics, symptoms, and self-efficacy differences in adult patients with rare tumors of the central nervous system who participated in a novel web-based natural history study

Fetched: August 6th, 2024, 2:01am UTC by Alvina Acquaye-Mallory

Cancer Med. 2024 Aug;13(15):e70017. doi: 10.1002/cam4.70017.

ABSTRACT

OBJECTIVE: High self-efficacy is associated with improved self-care and reduced symptoms in cancer patients but has not been fully interrogated in adults with central nervous system (CNS) cancers. We aimed to identify the relationship between self-efficacy levels in managing emotions (SEMEM) and social interactions (SEMSI) by examining sample characteristics and symptom burden.

METHODS: Sample characteristics and patient-reported outcome (PRO) measures addressing self-efficacy (PROMIS SEMEM & SEMSI) and symptom burden (MDASI BT or SP) were collected in a novel web-based study of 158 adult patients diagnosed with rare CNS tumors.

RESULTS: The sample was predominantly female (73%), diagnosed with an ependymoma (66%), and had a median age of 45 (19-75). Low SEMEM was associated with a longer duration of symptoms before surgery (r = -0.26) and female gender (92%) among brain tumor (BT) participants and in spinal cord tumors (SCT), those with lower education (r = 0.29). Reporting low SEMSI was associated with being married (42%), lower education (r = 0.22), and a prolonged time with symptoms before surgery (r = 0.29) in those with BTs, with no associations identified in SCT. More severe mood-related interference (including mood, enjoyment of life, and relationship with others) was associated with lower SEMEM among both locations (r = -0.61 brain, r = -0.28 spine) and SEMSI in BT participants (r = -0.54).

CONCLUSIONS: Low self-efficacy was linked to a prolonged time between symptom onset and initial surgery, education, gender, and marital status and was associated with higher mood-related interference. Understanding characteristics associated with low self-efficacy underscores a need for future studies to tailor interventions that enhance self-efficacy.

PMID:39101481 | PMC:PMC11299073 | DOI:10.1002/cam4.70017

Permalink for 'Descriptive epidemiology of 399 histologically confirmed newly diagnosed meningeal solitary fibrous tumours and haemangiopericytomas in France: 2006-2015'

Descriptive epidemiology of 399 histologically confirmed newly diagnosed meningeal solitary fibrous tumours and haemangiopericytomas in France: 2006-2015

Fetched: August 3rd, 2024, 2:01am UTC by Charles Champeaux Depond

Acta Neurochir (Wien). 2024 Aug 2;166(1):320. doi: 10.1007/s00701-024-06191-y.

ABSTRACT

PURPOSE: Meningeal solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) are uncommon tumours that have been merged into a single entity in the last 2021 WHO Classification of Tumors of the Central Nervous System. To describe the epidemiology of SFT/HPC operated in France and, to assess their incidence.

METHODS: We processed the French Brain Tumour Database (FBTDB) to conduct a nationwide population-based study of all histopathologically confirmed SFT/HPC between 2006 and 2015.

RESULTS: Our study included 399 SFT/HPC patients, operated in France between 2006 and 2015, in one of the 46 participating neurosurgical centres. The incidence reached 0.062, 95%CI[0.056-0.068] for 100,000 person-years. SFT accounted for 35.8% and, HPC for 64.2%. The ratio of SFT/HPC over meningioma operated during the same period was 0.013. SFT/HPC are about equally distributed in women and men (55.9% vs. 44.1%). For the whole population, mean age at surgery was 53.9 (SD Â± 15.8) years. The incidence of SFT/HPC surgery increases with the age and, is maximal for the 50-55 years category. Benign SFT/HPC accounted for 65.16%, SFT/HPC of uncertain behaviour for 11.53% and malignant ones for 23.31%. The number of resection progresses as the histopathological behaviour became more aggressive. 6.7% of the patients with a benign SFT/HPC had a second surgery vs.16.6% in case of uncertain behaviour and, 28.4% for malignant SFT/HPC patients.

CONCLUSION: Meningeal SFT and HPC are rare CNS mesenchymal tumours which both share common epidemiological characteristics, asserting their merging under a common entity. SFT/HPC incidence is less that one case for 1 billion per year and, for around 100 meningiomas-like tumours removed, one SFT/HPC may be diagnosed. SFT/HPC are equally distributed in women and men and, are mainly diagnosed around 50-55 years. The more aggressive the tumour, the higher the probability of recurrence.

PMID:39093339 | DOI:10.1007/s00701-024-06191-y

Clinical features of blastic plasmacytoid dendritic neoplasm in Chile: report of 10 cases

Fetched: August 3rd, 2024, 2:01am UTC by Vicente Micolich

Rev Med Chil. 2023 Sep;151(9):1201-1206. doi: 10.4067/s0034-98872023000901201.

ABSTRACT

BACKGROUND: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare malignant tumor with a dismal prognosis, with isolated case reports in Chile. The BPDCN can present skin and bone marrow compromise, and its diagnosis is frequently confused with other pathologies. This study aimed to evaluate the clinical and immunophenotypical features of BPDCN in the Chilean population.

METHODS: We performed a retrospective study from 2013 to 2021 in clinical records of 2 public Chilean referral hospitals, including ten patients, 80% male, with a median age of 66 years (15-81).

RESULTS: The most frequent initial referral diagnoses were T-cell lymphoma (4/10) and acute myeloblastic leukemia (3/10). Seven patients presented skin and bone marrow involvement; we found a lower frequency of adenopathies (5/10), splenomegaly (2/10), and hepatomegaly (2/10). The complete blood count revealed anemia and leukopenia, with blasts in 5/10. Nine patients received induction therapy. CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisone) was indicated in 8/10 cases with remission in 5/8, and 1 patient received HyerCVAD (cyclophosphamide, vincristine, doxorubicin and dexamethasone, methotrexate, cytarabine) and an allogeneic bone marrow transplant. The median survival was 10 months (95% CI 4.2-15.8 months) with 9/10 deaths. Relapse in the central nervous system was documented in 2 cases.

CONCLUSIONS: Our study found that BPDCN, a rare pathology in the Chilean population, shows a similar clinical presentation compared to previous studies. It is susceptible to respond to initial systemic and intrathecal chemotherapy.

PMID:39093157 | DOI:10.4067/s0034-98872023000901201

Primary pulmonary meningioma presenting as a pulmonary ground glass nodule: a case report and review of the literature

Fetched: August 3rd, 2024, 2:01am UTC by Shengliang Zhao

J Med Case Rep. 2024 Aug 2;18(1):350. doi: 10.1186/s13256-024-04668-z.

ABSTRACT

BACKGROUND: A primary pulmonary meningioma is an extremely rare entity. Primary pulmonary meningiomas manifested with a ground glass nodule are a very rare occurrence in clinical practice.

CASE PRESENTATION: In this study, we report a case of a primary pulmonary meningioma with atypical computed tomography features. A 59-year-old Han Chinese female came to our hospital for treatment and reported that her physical examination revealed a ground glass nodule in the right lung for over 3 months. The histologic result revealed a primary pulmonary meningioma. The patient underwent a thoracoscopic lung wedge resection of the right upper lobe for a ground glass nodule. After 1 year of follow-up, the patient is still alive without evidence of metastasis or recurrence.

CONCLUSIONS: Primary pulmonary meningiomas could have a variety of radiological findings. As there are no specific radiologic features for the diagnosis of primary pulmonary meningiomas, complete resection of the lesion is required for both diagnosis and treatment. It is necessary to note the imaging features of primary pulmonary meningiomas, presenting as a ground glass nodule; this rare tumor should be considered in differential diagnoses.

PMID:39090733 | PMC:PMC11295677 | DOI:10.1186/s13256-024-04668-z

Epidemiological features of spinal intradural tumors, a single-center clinical study in Beijing, China

Fetched: August 3rd, 2024, 2:01am UTC by Longqi Liu

BMC Musculoskelet Disord. 2024 Aug 1;25(1):613. doi: 10.1186/s12891-024-07741-2.

ABSTRACT

BACKGROUND: Spinal intradural tumors are rare and heterogeneous in histological type, aggressiveness, and symptomatology, and there is a lack of data about them. This study investigated the epidemiological features of spinal intradural tumors.

METHODS: This retrospective analysis included patients with spinal intradural tumors who underwent surgical treatment at the Myelopathy and Spondylosis Ward Beijing Jishuitan Hospital between January 2012 and December 2022.

RESULTS: This study included 1321 patients [aged 47.19 Â± 14.90 years, 603 (45.65%) males] with spinal intradural tumors. The most common histological subtype was schwannoma [n = 511 (38.68%)], followed by spinal meningioma [n = 184 (13.93%)] and ependymoma [n = 101 (7.65%)]. Fifteen (1.14%) patients were diagnosed with metastatic spinal intradural tumors as a presentation of another primary cancer type. The spinal intradural tumors were mostly found in the lumbar region [n = 436 (33.01%)], followed by the thoracic vertebrae [n = 390 (29.52%)], cervical vertebrae [n = 154 (11.66%)], and thoracolumbar region [n = 111 (8.40%)]. Schwannomas mostly affected the lumbar region [n = 256 (52.64%)], spinal meningiomas in the thoracic region [n = 153 (83.15)], and ependymomas in the lumbar region [56 (55.45%)]. The de novo metastases were mostly found in the lumbar region [n = 8 (53.33%)].

CONCLUSION: According to the results of our single-center study, the most common spinal intradural tumor in Northern China is schwannoma, followed by spinal meningioma and ependymoma.

PMID:39090624 | PMC:PMC11292946 | DOI:10.1186/s12891-024-07741-2

Cutis verticis gyrata in a patient with acromegaly: an unusual case and review of literature

Fetched: August 2nd, 2024, 2:01am UTC by Ossama Achach

Dermatol Online J. 2024 Jun 15;30(3). doi: 10.5070/D330363871.

ABSTRACT

Acromegaly is a rare systemic syndrome induced by the overproduction of growth hormone (GH) and insulin-like growth factor type one (IGF1). It is responsible for changes in the skeletal and soft tissue systems and it almost always occurs because of a pituitary adenoma. Amongst the skin complications related to acromegaly, cutis verticis gyrate (CVG) is occasionally found. It is a skin condition characterized by excessive growth of the skin of the scalp, resulting in furrows and folds. Only a few cases of this uncommon association have been reported in the literature. The present clinical case illustrates typical CVG associated with acromegaly. Imaging revealed a pituitary macroadenoma lesion and hormonal evaluation revealed elevated IGF1 and hypopituitarism. The patient underwent a transsphenoidal resection of the pituitary adenoma and the histopathological examination confirmed the diagnosis. The diagnosis of CVG is clinical, so radiologic assessments are generally not necessary. The management of acromegaly associated with CVG depends on controlling the serum levels of GH and IGF1. In some cases, specific injections or surgery can be used to minimize CVG.

PMID:39090044 | DOI:10.5070/D330363871

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