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PubMed - Rare CNS Tumor (100 unread)

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Combined cytotoxic and immune-stimulatory gene therapy for glioma

Fetched: December 5th, 2023, 5:01am GMT by Binghao Zhao

Lancet Oncol. 2023 Dec;24(12):e455. doi: 10.1016/S1470-2045(23)00507-7.

NO ABSTRACT

PMID:38039997 | DOI:10.1016/S1470-2045(23)00507-7

Clinical characteristics and prognostic factors of surgical treatment in children with brainstem tumor

Fetched: December 5th, 2023, 5:01am GMT by Y-Z He

Eur Rev Med Pharmacol Sci. 2023 Nov;27(22):10926-10934. doi: 10.26355/eurrev_202311_34460.

ABSTRACT

OBJECTIVE: Brainstem tumors present a significant challenge in surgical treatment, and the prognostic factors in children are lacking. This study aimed to investigate clinical characteristics and prognostic factors of surgical treatment in children with brainstem tumors.

PATIENTS AND METHODS: 50 children with brainstem tumors who underwent surgical treatment, including frameless- or frame-based stereotactic biopsy and resection, were included and followed up for clinical and biological analysis. Factors of outcomes were assessed by univariate and multivariate analysis.

RESULTS: 27 cases (54.0%) underwent resection in all children with brainstem tumors. The rate of resection reached as high as 81.8% in children with non-diffuse intrinsic pontine glioma (DIPG), while in children with DIPG, biopsy was performed in the majority, and resection was obtained in the minority with focal necrosis. A rare complication was found following the surgery. Multivariate analysis considered World Health Organization (WHO) grade 3-4, with hazard ratio (HR)=4.48, 95% confidence interval (CI) of 2.84-8.69, p=0.001, H3K27M mutation (HR=2.50, 95% CI 1.73-5.69, p=0.015), and hydrocephalus (HR=2.17, 95% CI 1.08-5.32, p=0.014) as independent adverse prognostic factors. For Kaplan-Meier analysis, children with WHO grade 3-4, Ki-67 LI ≥ 20%, TP53 mutation, H3K27M mutation, DIPG, and hydrocephalus had significantly decreased overall survival (OS).

CONCLUSIONS: A high rate of resection has been obtained in non-DIPG, and surgical intervention is remarkably safe and efficient for children with brainstem tumors. WHO grade 3-4, H3K27M mutation, and hydrocephalus indicate poor prognosis in children with brainstem tumors.

PMID:38039022 | DOI:10.26355/eurrev_202311_34460

Predicting survival of patients with bone metastasis of unknown origin

Fetched: December 2nd, 2023, 5:01am GMT by Ying Ren

Front Endocrinol (Lausanne). 2023 Nov 6;14:1193318. doi: 10.3389/fendo.2023.1193318. eCollection 2023.

ABSTRACT

PURPOSE: Bone metastasis of unknown origin is a rare and challenging situation, which is infrequently reported. Therefore, the current study was performed to analyze the clinicopathologic features and risk factors of survival among patients with bone metastasis of unknown origin.

PATIENTS AND METHODS: We retrospectively analyzed the clinical data for patients with bone metastasis of unknown origin between 2010 and 2016 based on the Surveillance, Epidemiology, and End Results (SEER) database. Overall survival (OS) and cancer-specific survival (CSS) were first analyzed by applying univariable Cox regression analysis. Then, we performed multivariable analysis to confirm independent survival predictors.

RESULTS: In total, we identified 1224 patients with bone metastasis of unknown origin for survival analysis, of which 704 males (57.5%) and 520 females (42.5%). Patients with bone metastasis of unknown origin had a 1-year OS rate of 14.50% and CSS rate of 15.90%, respectively. Race, brain metastasis, liver metastasis, radiotherapy, and chemotherapy were significant risk factors of OS on both univariable and multivariable analyses (p <0.05). As for CSS, both univariable and multivariable analyses revealed that no brain metastasis, no liver metastasis, radiotherapy, and chemotherapy were associated with increased survival (p <0.05).

CONCLUSION: Patients with bone metastasis of unknown origin experienced an extremely poor prognosis. Radiotherapy and chemotherapy were beneficial for prolonging the survival of those patients.

PMID:38027105 | PMC:PMC10658782 | DOI:10.3389/fendo.2023.1193318

Permalink for 'Safety of microneurosurgical interventions for superficial and deep-seated brain metastases: single-center cohort study of 637 consecutive cases'

Safety of microneurosurgical interventions for superficial and deep-seated brain metastases: single-center cohort study of 637 consecutive cases

Fetched: December 2nd, 2023, 5:01am GMT by Stefanos Voglis

J Neurooncol. 2023 Nov;165(2):271-278. doi: 10.1007/s11060-023-04478-1. Epub 2023 Nov 10.

ABSTRACT

PURPOSE: Microneurosurgical techniques have greatly improved over the past years due to the introduction of new technology and surgical concepts. To reevaluate the role of micro-neurosurgery in brain metastases (BM) resection in the era of new systemic and local treatment options, its safety profile needs to be reassessed. The aim of this study was to analyze the rate of adverse events (AEs) according to a systematic, comprehensive and reliably reproducible grading system after microneurosurgical BM resection in a large and modern microneurosurgical series with special emphasis on anatomical location.

METHODS: Prospectively collected cases of BM resection between 2013 and 2022 were retrospectively analyzed. Number of AEs, defined as any deviations from the expected postoperative course according to Clavien-Dindo-Grade (CDG) were evaluated. Patient, surgical, and lesion characteristics, including exact anatomic tumor locations, were analyzed using uni- and multivariate logistic regression and survival analysis to identify predictive factors for AEs.

RESULTS: We identified 664 eligible patients with lung cancer being the most common primary tumor (44%), followed by melanoma (25%) and breast cancer (11%). 29 patients (4%) underwent biopsy only whereas BM were resected in 637 (96%) of cases. The overall rate of AEs was 8% at discharge. However, severe AEs (≥ CDG 3a; requiring surgical intervention under local/general anesthesia or ICU treatment) occurred in only 1.9% (n = 12) of cases with a perioperative mortality of 0.6% (n = 4). Infratentorial tumor location (OR 5.46, 95% 2.31-13.8, p = .001), reoperation (OR 2.31, 95% 1.07-4.81, p = .033) and central region tumor location (OR 3.03, 95% 1.03-8.60) showed to be significant predictors in a multivariate analysis for major AEs (CDG ≥ 2 or new neurological deficits). Neither deep supratentorial nor central region tumors were associated with more major AEs compared to convexity lesions.

CONCLUSIONS: Modern microneurosurgical resection can be considered an excellent option in the management of BM in terms of safety, as the overall rate of major AEs are very rare even in eloquent and deep-seated lesions.

PMID:37945819 | PMC:PMC10689541 | DOI:10.1007/s11060-023-04478-1

Whole brain radiation therapy resulting in radionecrosis: a possible link with radiosensitising chemoimmunotherapy

Fetched: December 1st, 2023, 5:01am GMT by Sam Ngu

BMJ Case Rep. 2023 Nov 28;16(11):e256758. doi: 10.1136/bcr-2023-256758.

ABSTRACT

Radionecrosis describes a rare but serious complication of radiation therapy. In clinical practice, stereotactic radiosurgery (SRS) is increasingly used in combination with systemic therapy, including chemotherapy, immune checkpoint inhibitor and targeted therapy, either concurrently or sequentially. There is a paucity of literature regarding radionecrosis in patients receiving whole brain radiation therapy (WBRT) alone (without additional SRS) in combination with immunotherapy or targeted therapies. It is observed that certain combinations increase the overall radiosensitivity of the tumorous lesions. We present a rare case of symptomatic radionecrosis almost 1 year after WBRT in a patient with non-squamous non-small cell lung cancer on third-line chemoimmunotherapy. We discuss available research regarding factors that may lead to radionecrosis in these patients, including molecular and genetic profiles, specific drug therapy combinations and their timing or increased overall survival.

PMID:38016763 | PMC:PMC10685978 | DOI:10.1136/bcr-2023-256758

Permalink for 'Early detection of brain metastases and appropriate local therapy followed by systemic chemotherapy may improve the prognosis of gastric cancer'

Early detection of brain metastases and appropriate local therapy followed by systemic chemotherapy may improve the prognosis of gastric cancer

Fetched: November 30th, 2023, 5:01am GMT by Yasunobu Ishizuka

Sci Rep. 2023 Nov 27;13(1):20805. doi: 10.1038/s41598-023-46933-z.

ABSTRACT

Brain metastases develop in 0.5-0.7% of patients with gastric/gastroesophageal junction (G/GEJ) cancer. Although rare, brain metastasis is often identified when the patient is already symptomatic; hence prognosis is poor. Given the therapeutic developments for G/GEJ cancer, overall survival is prolonged, thereby the incidence of brain metastases is predicted to increase. We retrospectively surveyed the rate of brain metastasis among 1257 patients diagnosed with G/GEJ cancer who received chemotherapy between January 2011 and April 2021. We investigated the time of onset of brain metastasis, treatments administered, and impact of the metastasis on the overall treatment course and prognosis. Of the 741 patients included in the analysis, brain metastasis was confirmed in 16 (2.2%). The median survival time (MST) from G/GEJ cancer diagnosis was 14.9 months in patients with brain metastasis detected during the treatment period, and the MST from the diagnosis of brain metastasis was 2.8 months. Patients who received chemotherapy exhibited prolonged survival compared with those who did not (12.4 months vs 1.0 months, p < 0.001). Our findings suggest that the early detection of brain metastases and local therapy for poor responders to chemotherapy enable the continuation of chemotherapy and prolong survival.

PMID:38012185 | PMC:PMC10681977 | DOI:10.1038/s41598-023-46933-z

Permalink for 'Clinical significance of molecular subgroups of polymorphous low-grade neuroepithelial tumor of the young (PLNTY): A small single institutional case series and integrated analysis'

Clinical significance of molecular subgroups of polymorphous low-grade neuroepithelial tumor of the young (PLNTY): A small single institutional case series and integrated analysis

Fetched: November 30th, 2023, 5:01am GMT by Huy Gia Vuong

Pathol Res Pract. 2023 Dec;252:154922. doi: 10.1016/j.prp.2023.154922. Epub 2023 Nov 8.

ABSTRACT

INTRODUCTION: Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a recently described entity. The clinicopathological features and prognosis of the molecular subgroups of these rare tumors is poorly understood. In this study, we presented a small case series of three new cases and integrated the data with published cases in the literature to characterize the similarities and differences of molecular subgroups of PLNTY.

METHODS: We searched our institutional archive for PLNTY cases and searched PubMed and Web of Science for relevant data. Demographic, clinical, radiologic, histopathological, molecular, and follow-up data of our four cases with published cases were integrated for final analyses.

RESULTS: We identified three institutional cases of PLNTY. The median age of our patients was 17 years (range: 13-42). All patients had a prior history of chronic seizures and all had tumors affecting the temporal lobes. Histopathologically, all cases showed oligodendroglial-like morphology with intratumoral calcifications and at least partially infiltrative growth patterns. Tumor cells were immunoreactive with CD34 and GFAP. Genetically, all cases harbored BRAF V600E mutations. Integrated analyses, including a total of 67 cases, demonstrated that PLNTYs with FGFR2 mutation were significantly younger (median age 11.0 years) than those with BRAF V600E or FGFR3 fusions (median age 41.0 and 16.0 years, respectively). All BRAF V600E-positive PLNTYs were free of tumor recurrence, while four of PLNTYs in other molecular subgroups developed tumor recurrence by imaging.

CONCLUSION: Our study suggests that PLNTYs have distinct clinicopathological features and are driven by genetic alterations in the MAPK pathway. The molecular subgroups of PLNTYs share similar findings, but also demonstrate distinct patient demographics.

PMID:37984047 | DOI:10.1016/j.prp.2023.154922

Intracranial germ cell tumors: a view of the endocrinologist

Fetched: November 30th, 2023, 5:01am GMT by Tao Tong

J Pediatr Endocrinol Metab. 2023 Oct 30;36(12):1115-1127. doi: 10.1515/jpem-2023-0368. Print 2023 Dec 15.

ABSTRACT

Intracranial germ cell tumors (iGCTs) are rare malignant neoplasms that mainly affect children and adolescents. The incidence, clinical presentation, and prognosis of iGCTs exhibit high heterogeneity. Previous studies have primarily focused on eliminating tumors, reducing tumor recurrence, and improving survival rates, while neglecting the impact of the tumors and their treatment on neuroendocrine function. Throughout the entire course of the disease, neuroendocrine dysfunction may occur and is frequently overlooked by oncologists, neurosurgeons, and radiologists. Endocrinologists, however, are more interested in this issue and have varying priorities at different stages of the disease. From onset to the diagnostic phase, most patients with iGCTs may present with symptoms related to impaired neuroendocrine function, or even experience these symptoms as their first indication of the condition. Particularly, a minority of patients with sellar/suprasellar lesions may exhibit typical imaging features and elevated tumor markers long after the onset of initial symptoms. This can further complicate the diagnosis process. During the peritumor treatment phase, the neuroendocrine function shows dynamic changes and needs to be evaluated dynamically. Once diabetes insipidus and dysfunction of the hypothalamic-pituitary-adrenal and hypothalamic-pituitary-thyroid axes occur, hormone replacement therapy should be administered promptly to ensure successful tumor treatment for the patient. Subsequently, during the long-term management phase after the completion of tumor treatment, the evaluation of growth and development as well as corresponding hormone replacement therapy are the most concerning and complex issues. Thus, this paper reviews the interest of endocrinologists in iGCTs at different stages.

PMID:37899276 | DOI:10.1515/jpem-2023-0368

Pineal cysts in children: a paediatric series treated over the last twenty years in Lyon

Fetched: November 30th, 2023, 5:01am GMT by Alexandru Szathmari

Childs Nerv Syst. 2023 Dec;39(12):3467-3474. doi: 10.1007/s00381-023-06181-y. Epub 2023 Oct 29.

ABSTRACT

BACKGROUND: Pineal cysts are a rare lesion of the pineal gland. Pineal cysts are benign lesions, generally asymptomatic, and are usually an incidental discovery on MRI performed for other problems. The management of pineal cysts in children remains a matter for debate. Here, we report our own retrospective paediatric cases that have been surgically treated and review the paediatric literature on this topic.

METHODS: This is a retrospective monocentric study. All patients operated by the senior author (CM) for a benign pineal cyst from 2000 to 2021 were included. All other pineal region cystic lesions were excluded. Medical and surgical data were extracted from the hospital medical database.

RESULTS: Twelve patients were included. The clinical symptomatology was characterized by headaches in seven patients, visual troubles in two patients, precocious puberty in one patient, signs of intracranial hypertension in two patients, seizures associated with headache in one patient, and headaches associated with behavioural troubles in another patient. No major post-operative complications were observed in this series. It is to noted that surgery was performed because a suspicion of a true pineal parenchymal tumour has been made. Histopathological study came back with the diagnosis of pineal cyst.

CONCLUSIONS: Pineal cyst is rare. If the radiological diagnosis is clear, no surgery is advocated except in cases associated with hydrocephalus and rapid growth. In case of a suspicion of a true pineal parenchymal tumour, a surgery may be needed to confirm the diagnosis. Lastly, we stress that only cystic lesions of the pineal gland itself should be considered as pineal cyst.

PMID:37898987 | DOI:10.1007/s00381-023-06181-y

Central nervous system tuberculoma mimicking a brain tumor: A case report

Fetched: November 30th, 2023, 5:01am GMT by Pierce McMahon

Radiol Case Rep. 2023 Nov 14;19(1):414-417. doi: 10.1016/j.radcr.2023.10.042. eCollection 2024 Jan.

ABSTRACT

The central nervous system (CNS) is a rare but serious site of tuberculosis spread that manifests in three forms: meningitis, spinal arachnoiditis, and CNS tuberculoma. CNS tuberculoma, or intracranial tuberculous granuloma, is a caseating or non-caseating granulomatous reaction within the brain parenchyma that may mimic a brain tumor. We present the case of a 10-year-old male patient with a travel history to Western Africa who presented to our institution after his fourth tonic-clonic seizure over 2 months. MRI of the brain revealed a solitary cortical/subcortical enhancing intracranial mass with intralesional hemorrhage and mineralization, pathologically proven to represent a CNS tuberculoma. While rare, this etiology should be considered with the appropriate travel history and for which prompt treatment may improve outcomes in the pediatric population.

PMID:38028299 | PMC:PMC10679855 | DOI:10.1016/j.radcr.2023.10.042

Sporadic Renal Hemangioblastoma: A Case Report of a Rare Entity

Fetched: November 30th, 2023, 5:01am GMT by Fnu Raja

Cureus. 2023 Oct 16;15(10):e47102. doi: 10.7759/cureus.47102. eCollection 2023 Oct.

ABSTRACT

Hemangioblastoma, also known as capillary hemangioblastoma, is a rare benign mesenchymal tumor commonly found in the central nervous system (CNS). It can also manifest in various organs, including the kidney. Renal hemangioblastoma (RH) is often associated with Von Hippel-Lindau (VHL) disease, but sporadic occurrences are observed infrequently. While RH is usually asymptomatic, it can also cause abdominal pain and hematuria. In this study, we present a case of an elderly patient without history of VHL but complaining of abdominal pain for three days. Serological evaluations were unremarkable, and a CT scan identified a 2.4 cm mixed solid-cystic mass lesion on the left kidney's superior aspect. The patient subsequently underwent a biopsy followed by lesion ablation. Microscopic analysis revealed sheets of eosinophilic cells with ovoid nuclei, showing focal rhabdoid and spindle cell features, with an intricate capillary network. Focal nuclear atypia without necrosis or mitosis was noted. Immunohistochemistry (IHC) demonstrated positive staining for inhibin, S100, PAX8, and vimentin, along with patchy positivity for CD10 and RCC. Negative staining was observed for cytokeratin AE1/AE3, CK7, EMA, CK8/18, desmin, and HMB-45. The overall morphological characteristics and distinct IHC markers were consistent with RH. Although its pathogenesis remains unclear because of its rarity, distinguishing RH from renal cell carcinoma is crucial. IHC markers facilitate differentiation among lesions. The preferred treatment involves ablation or partial nephrectomy. Further assessment for possible VHL syndrome is essential, considering the distinct management approaches for sporadic and VHL-linked RH.

PMID:38022288 | PMC:PMC10646688 | DOI:10.7759/cureus.47102

Isolated Abducens Nerve Palsy in the Setting of Isolated Sphenoid Sinusitis: A Case Report

Fetched: November 30th, 2023, 5:01am GMT by Richard I Suarez

Cureus. 2023 Oct 13;15(10):e46993. doi: 10.7759/cureus.46993. eCollection 2023 Oct.

ABSTRACT

The cranial nerves (CNs) are responsible for multiple functions, including extraocular mobility, facial sensation and movement, hearing, mastication, tongue movement and sensation, and swallowing. Beyond these vital roles, they can also demonstrate importance in their diagnostic value. Isolated or combined palsies provide insights into potential localizations and various underlying etiologies, including stroke, tumor, and infections that may guide further neurological evaluation. CN VI, the abducens nerve, singularly innervates the lateral rectus muscle, which is responsible for the abduction of the eyes. Despite its long anatomic trajectory, making it susceptible to intracranial injury, an isolated abducens nerve palsy is extremely rare. The most common clinical presentation includes headache, diplopia, and the inability to abduct the afflicted eye. This case report introduces a 71-year-old female with a medical history of malignancy and pancytopenia who presented to the emergency room with complaints of ear pain and swelling and subsequently developed diplopia secondary to unilateral CN VI palsy. Magnetic resonance imaging (MRI) revealed isolated sphenoid sinusitis for which she was clinically asymptomatic. She was treated with a regimen of ampicillin-sulbactam, an oral anti-inflammatory agent, and a tapered course of methylprednisolone with a rapid and complete resolution of the abducens nerve palsy and sinusitis. Acute isolated diplopia is an unusual neurologic condition prompting the need for rapid and thorough investigation. Although exceedingly rare and infrequently cited in the literature, isolated abducens nerve palsies secondary to sphenoid sinusitis should be entertained in the differential diagnosis of this presentation.

PMID:38022164 | PMC:PMC10640912 | DOI:10.7759/cureus.46993

Sellar Suprasellar Surprise: A Rare Case of Atypical Teratoid/Rhabdoid Tumor in an Infant

Fetched: November 30th, 2023, 5:01am GMT by Ravi Shah

Cureus. 2023 Oct 25;15(10):e47632. doi: 10.7759/cureus.47632. eCollection 2023 Oct.

ABSTRACT

We present a case of a 10-month-old male infant who initially presented with polyuria, polydipsia, drowsiness, and fever. Neuroimaging using non-contrast computed tomography (NCCT) demonstrated obstructive hydrocephalus associated with a suprasellar mass, for which emergency neurosurgical intervention was performed with right parietal medium pressure ventriculoperitoneal (MPVP) shunting. For fever, no cause was found with sterile cerebrospinal fluid (CSF) analysis, and empirical antibiotics were administered. The patient exhibited polyuria with hypernatremia and was diagnosed with arginine vasopressin (AVP) deficiency, further complicated by visual impairment due to left optic atrophy. Hormonal workup revealed secondary hypothyroidism and hypocortisolism. Imaging by contrast-enhanced magnetic resonance imaging (CEMR) revealed a lobulated solid-cystic suprasellar mass with flow void, suggestive of adamantinomatous craniopharyngioma initially. However, despite multiple neurosurgical interventions, the patient's condition deteriorated with recurrent fever and seizures, leading to a revision of ventriculoperitoneal shunts. Repeat CEMR showed an increase in the size of the lesion with spinal leptomeningeal metastasis, suggesting a different pathology. Transventricular biopsy confirmed an atypical teratoid and rhabdoid tumor (AT/RT), World Health Organization Classification of Tumors of the Central Nervous System (CNS WHO) grade 4, characterized by diffuse growth pattern, moderate nuclear pleomorphism, clear cytoplasm, and prominent nucleoli. Immunohistochemistry revealed positive vimentin staining and loss of integrase interactor 1 (INI1) expression, consistent with AT/RT. The patient's parents were counseled on the need for multimodal management, including surgery and chemotherapy. However, due to socioeconomic constraints and a guarded prognosis, they chose to leave against medical advice. This case illustrates the diagnostic challenges in distinguishing AT/RT from other suprasellar masses and emphasizes the importance of a multidisciplinary approach in managing complex pediatric cases.

PMID:38022150 | PMC:PMC10668202 | DOI:10.7759/cureus.47632

Permalink for 'Pediatric Glioblastoma Multiforme: A Challenging Case of Rapid Growth and Clinical Deterioration in an 11-Year-Old Female Patient'

Pediatric Glioblastoma Multiforme: A Challenging Case of Rapid Growth and Clinical Deterioration in an 11-Year-Old Female Patient

Fetched: November 30th, 2023, 5:01am GMT by Mohammed Khaleel I Kh Almadhoun

Cureus. 2023 Oct 26;15(10):e47697. doi: 10.7759/cureus.47697. eCollection 2023 Oct.

ABSTRACT

Glioblastoma multiforme (GBM) is an aggressive primary brain tumor that primarily affects adults, with cases in children being extremely rare. Gross total resection with subsequent irradiation and temozolomide, currently delivering the greatest overall survival, is the mainstay of therapy for juvenile GBM. Maximal surgical excision of the visible tumor mass has been shown to have a positive prognostic effect, but radiation concerns for growing brains and inconsistent results from different chemotherapy regimens in pediatric GBM make treatment choices for young patients challenging. Here, we report a case of GBM in an 11-year-old female child who presented with a dramatic presentation of neurologic deficits and clinical worsening due to rapid tumor growth.

PMID:38021881 | PMC:PMC10674094 | DOI:10.7759/cureus.47697

A review on nondiabetic hypoglycemia from various causes: Case series report

Fetched: November 30th, 2023, 5:01am GMT by Lulu Gan

Medicine (Baltimore). 2023 Nov 24;102(47):e36273. doi: 10.1097/MD.0000000000036273.

ABSTRACT

RATIONALE: Hypoglycemia is common in patients with glucose regulation disorders and related diabetic treatments but is rare in nondiabetic patients. Severe hypoglycemia can cause harm to patients' cognition, consciousness, central nervous system, cardiovascular and cerebrovascular system, and even death. However, the most fundamental way to control hypoglycemia is to identify the cause and deal with the primary disease. This article introduces 3 cases of nondiabetic hypoglycemia with different causes, aiming to improve our understanding of nondiabetic hypoglycemia and improve the ability of early diagnosis and differential diagnosis.

PATIENT CONCERNS: Case 1 is a 19-year-old female with a history of recurrent coma, and magnetic resonance imaging and endoscopic ultrasound of the pancreas suggest insulinoma. Case 2 is a 74-year-old male with a history of viral hepatitis, and computerized tomography shows multiple nodules in the liver, which is diagnosed as liver cancer. Case 3 is a 39-year-old female with a history of taking methimazole, who tested positive for insulin antibodies, and was diagnosed with insulin autoimmune syndrome.

DIAGNOSIS: All 3 patients were diagnosed with nondiabetic hypoglycemia, but the causes varied, and included insulinoma, non-islet cell tumor-induced hypoglycemia, and insulin autoimmune syndrome.

INTERVENTIONS: Case 1 underwent pancreatic tail resection; case 2 refused anti-tumor treatment and received glucose injections for palliative treatment only; and case 3 stopped taking methimazole.

OUTCOMES: After surgery, the blood sugar in case 1 returned to normal, and the blood sugar in case 2 was maintained at about 6.0 mmol/L. The symptoms of hypoglycemia gradually improved in case 3 after stopping the medication.

LESSONS: Non-diabetic hypoglycemia requires further examination to clarify the cause, and the correct differential diagnosis can provide timely and effective treatment, improving the patient's prognosis.

PMID:38013348 | PMC:PMC10681503 | DOI:10.1097/MD.0000000000036273

Genetic alterations that deregulate RB and PDGFRA signaling pathways drive tumor progression in IDH2-mutant astrocytoma

Fetched: November 29th, 2023, 5:01am GMT by Kensuke Tateishi

Acta Neuropathol Commun. 2023 Nov 27;11(1):186. doi: 10.1186/s40478-023-01683-x.

ABSTRACT

In IDH-mutant astrocytoma, IDH2 mutation is quite rare and biological mechanisms underlying tumor progression in IDH2-mutant astrocytoma remain elusive. Here, we report a unique case of IDH2 mutant astrocytoma, CNS WHO grade 3 that developed tumor progression. We performed a comprehensive genomic and epigenomic analysis for primary and recurrent tumors and found that both tumors harbored recurrent IDH2^R172K and TP53^R248W mutation with CDKN2A/B hemizygous deletion. We also found amplifications of CDK4 and MDM2 with PDGFRA gain in the recurrent tumor and upregulated protein expressions of these genes. We further developed, for the first time, a xenograft mouse model of IDH2^R172K and TP53^R248W mutant astrocytoma from the recurrent tumor, but not from the primary tumor. Consistent with parent recurrent tumor cells, amplifications of CDK4 and MDM2 and PDGFRA gain were found, while CDKN2A/B was identified as homozygous deletion in the xenografts, qualifying for integrated diagnosis of astrocytoma, IDH2-mutant, CNS WHO grade 4. Cell viability assay found that CDK4/6 inhibitor and PDGFR inhibitor potently decreased cell viability in recurrent tumor cells, as compared to primary tumor cells. These findings suggest that gene alterations that activate retinoblastoma (RB) signaling pathways and PDGFR may drive tumor progression and xenograft formation in IDH2-mutant astrocytoma, which is equivalent to progressive IDH1-mutant astrocytoma. Also, our findings suggest that these genomic alterations may represent therapeutic targets in IDH2-mutant astrocytoma.

PMID:38012788 | PMC:PMC10680361 | DOI:10.1186/s40478-023-01683-x

Advances in genetic abnormalities, epigenetic reprogramming, and immune landscape of intracranial germ cell tumors

Fetched: November 29th, 2023, 5:01am GMT by Yi Zhang

Acta Neuropathol Commun. 2023 Nov 27;11(1):188. doi: 10.1186/s40478-023-01682-y.

ABSTRACT

Intracranial germ cell tumors (IGCTs) are a rare subtype of central nervous system neoplasms that predominantly affect young individuals and exhibit a higher incidence in East Asia. IGCTs can be pathologically divided into two main categories: germinomas and non-germinomatous germ cell tumors (NGGCTs). Despite the scarcity of this disease, recent advancements in molecular biology techniques have facilitated the discovery of the inherent genetic and molecular characteristics of IGCTs. Somatic mutations that result in the activation of the KIT/RAS/MAPK and PI3K/AKT/mTOR pathways, chromosomal instability leading to characteristic changes in chromosomal fragments (notably 12p gain), and potentially diagnostic miRNAs (such as miR-371a-3p) may provide valuable insights for the efficient diagnosis, targeted therapy, and prognosis evaluation of IGCTs. Additionally, transcriptomic and methylomic analyses have provided new perspectives on the intrinsic development of IGCTs, further elucidating their equivalence with GCTs at other sites. The evaluation of the tumor immune landscape may guide prognosis prediction and immunotherapy for IGCT patients. Nevertheless, current research still faces challenges such as the absence of basic laboratory research systems, a single source of large sample research data, and a limited overall volume of research. The incorporation of larger sample sizes, the implementation of more innovative evaluation systems, and the employment of novel experimental methods are urgently required to become the focus of future research.

PMID:38012690 | PMC:PMC10683083 | DOI:10.1186/s40478-023-01682-y

Diffuse infiltrating primary cerebellar glioma involving the brainstem: a case report

Fetched: November 29th, 2023, 5:01am GMT by Yosuke Nakamura

Rinsho Shinkeigaku. 2023 Nov 23;63(11):732-736. doi: 10.5692/clinicalneurol.cn-001862. Epub 2023 Oct 25.

ABSTRACT

An 85-year-old woman was admitted to our hospital with unsteady gait, dizziness, nausea, and vomiting. MRI revealed characteristic abnormal signals in the bilateral cerebellar hemispheres. A brain biopsy was performed which confirmed a definitive histological diagnosis of diffuse glioma. Follow-up MRI showed diffuse abnormal signals that extended from the cerebellum to the brainstem through the cerebellar peduncle without mass formation. Her general condition gradually deteriorated even with the best supportive care, and she died 195 days after admission. Gliomatosis cerebri is characterized by a diffuse infiltrating growth pattern without mass formation in the brain. This case showed a similar proliferation mode from the cerebellum to the brain stem without mass formation. This case was diagnosed based on MRI and pathological findings. Only five similar cases have been previously reported, and compared to these reports, the patient in the present case was the oldest with the poorest prognosis. The histopathological features may influence the appropriate treatment and the prognosis. This disorder is a very rare condition; thus, when we encountered this patient showing cerebellar ataxia with diffuse abnormal MRI signals without mass formation in the cerebellum and brainstem, a brain biopsy was necessary to establish the definitive diagnosis.

PMID:37880119 | DOI:10.5692/clinicalneurol.cn-001862

Rare cell-in-cell phenomenon in a pediatric malignant rhabdoid tumor

Fetched: November 28th, 2023, 5:01am GMT by Qiang Yao

Pediatr Blood Cancer. 2024 Jan;71(1):e30744. doi: 10.1002/pbc.30744. Epub 2023 Oct 25.

NO ABSTRACT

PMID:37877841 | DOI:10.1002/pbc.30744

Giant prolactinoma in Asian-Indians: A single-center experience from Western India

Fetched: November 28th, 2023, 5:01am GMT by Sandeep Kumar

Ann Endocrinol (Paris). 2023 Dec;84(6):711-718. doi: 10.1016/j.ando.2023.10.005. Epub 2023 Oct 20.

ABSTRACT

PURPOSE: Giant prolactinomas (GP) are rare tumors accounting for 4.3% of prolactinomas, with paucity of literature from India. We aim to describe clinical, biochemical, radiological, and treatment outcomes in a large series of Asian-Indian patients with GP.

METHODS: A single-center retrospective analysis of GPs (n=84), age-based (adults: 66 versus pediatric: 18) and gender-based (males: 64 versus females: 20) comparison was done.

RESULTS: The mean age at presentation was 34.1±13years, and 64 (76.2%) were males. Males were younger at presentation (32.1±12.2 versus 40.1±13.8years, P: 0.01). The majority presented with mass-effect-related manifestations (visual disturbances: 91.6%, headache: 84.5%) and/or hypogonadism (98.7%). At baseline, largest tumor dimension was 5.3±1.0cm, and serum prolactin was 8343 (3865.5-12,306) ng/mL; most (94.6%) had gonadal axis involvement. Dopamine-agonist (DA) as first-line therapy (45/67, 67.2%) achieved normoprolactinemia (maximum cabergoline dose: 2.0±1.2mg/week) in 36/45 (80%) and tumor response (≥50% reduction) in 36/37 (97.3%) patients at the last follow-up (median duration: 33 [14.5-53.5]months). Notably, gonadal axis recovery was poor (6/30, 20%) despite normoprolactinemia post-DA monotherapy. At latest follow-up, secondary hypothyroidism (32.5% versus 82.6%, P: 0.001) and central hypocortisolism (5.6% versus 42.9%, P: 0.007) were less frequent in DA monotherapy (n=43) than in multimodal therapy group (n=23). The proportion of males (94.4% versus 71.2%, P: 0.04) was higher in the pediatric age group, with DA-induced (first-line) normoprolactinemia observed in 66.7% of them.

CONCLUSION: GP has male predominance, DA as first-line therapy normalized prolactin in four-fifths of patients with better preservation of HPT and HPA axes in patients with DA monotherapy.

PMID:37866429 | DOI:10.1016/j.ando.2023.10.005

Permalink for 'First evidence of anti-VEGF efficacy in an adult case of adamantinomatous craniopharyngioma: Case report and illustrative review'

First evidence of anti-VEGF efficacy in an adult case of adamantinomatous craniopharyngioma: Case report and illustrative review

Fetched: November 28th, 2023, 5:01am GMT by Andrea De Rosa

Ann Endocrinol (Paris). 2023 Dec;84(6):727-733. doi: 10.1016/j.ando.2023.10.003. Epub 2023 Oct 19.

ABSTRACT

BACKGROUND: Craniopharyngioma (CP) is a neurosurgical challenge, due to location and to the substantial risk of morbidity associated with surgical resection. Recent advances in molecular research have identified a mutation signature in papillary craniopharyngiomas: BRAF V600E. This has led to targeted therapy, yielding positive results. Despite numerous studies of the pathophysiology of adamantinomatous craniopharyngioma, treatment options for molecular-based therapy are still lacking. The objective of our study was to provide an illustrative review of the literature on possible molecular targets in adamantinomatous craniopharyngioma and to report the case of a patient harboring an adamantinomatous craniopharyngioma deemed unsuitable for surgical resection, in which an anti-VEGF antibody was used to achieve tumor control.

CASE REPORT: An 84-year-old-man was referred to our department with a history of visual loss caused by recurrent infundibular adamantinomatous craniopharyngioma. A first surgical attempt to reduce the cystic portion of the tumor compressing the optic pathway failed. Due to rapid worsening of visual function, adjuvant therapy with bevacizumab was initiated before radiotherapy.

RESULTS: Neuroradiological and ophthalmological follow-up showed a decrease in tumor volume and improvement in visual function as early as 6 weeks after commencing therapy. These results were confirmed 3 months after commencement of chemotherapy. Radiotherapy was scheduled for long-term tumor control.

CONCLUSIONS: To the best of our knowledge, our case is the first in the literature in which targeted therapy using anti-VEGF was successfully used as a single agent to treat adamantinomatous craniopharyngioma, with favorable outcome in terms of tumor shrinkage and clinical improvement. These preliminary results may open new perspectives for the management of adamantinomatous craniopharyngioma. Validation of this approach requires additional clinical evidence.

PMID:37865272 | DOI:10.1016/j.ando.2023.10.003

Permalink for 'Clinical characteristics and therapeutic outcomes of acromegalic patients with giant growth hormone-secreting pituitary adenomas: a single-center study of 67 cases'

Clinical characteristics and therapeutic outcomes of acromegalic patients with giant growth hormone-secreting pituitary adenomas: a single-center study of 67 cases

Fetched: November 28th, 2023, 5:01am GMT by Meiping Chen

Pituitary. 2023 Dec;26(6):675-685. doi: 10.1007/s11102-023-01356-x. Epub 2023 Oct 17.

ABSTRACT

PURPOSE: Acromegalic patients with giant growth hormone-secreting pituitary adenomas (GHPAs) (≥ 40 mm) are relatively rare, and their clinical characteristics and treatment outcome data are limited. This study aims to analyze the clinical practice experience of giant GHPAs.

METHODS: Sixty-seven acromegalic patients with giant GHPAs and 67 patients with macro GHPAs (10-39 mm), matched for age and gender from the same hospital during the same period, were retrospectively recruited. The clinical characteristics, treatment, and outcomes were analyzed.

RESULTS: Enlargement of the extremities and facial features were the most common symptoms in most patients (92.5%). Compared with the macroadenoma group, more frequent visual impairment (86.6% vs. 25.4%, P < 0.001) and gonadal axis dysfunction (49.3% vs. 34.3%, P = 0.008), higher preoperative fasting GH, nadir GH after OGTT and IGF-1 levels, and a higher proportion of extrasellar tumor invasion were seen in the giant adenoma group. As the adenoma size increases, the total resection rate decreases, and postoperative complications and multimodal treatment strategies increase significantly. Fasting and nadir GH levels remained higher at 1 week postoperatively, and there were more surgical complications and cases of anterior hypopituitarism in the giant group. After a median follow-up of 36 months, 12 patients (36.4%) in the giant GHPA group and 17 (36.2%) in the macro GHPA group achieved biochemical remission. Other factors such as age of onset, age of diagnosis, delayed diagnosis time, metabolic complications, p53 positive rate, and Ki-67 index showed no significant difference between the two groups.

CONCLUSIONS: With aggressive multimodal therapy, the biochemical remission rate of acromegalic patients with giant GHPAs is comparable to that of patients with macro adenoma. However, postoperative complications and hypopituitarism need to be closely monitored.

PMID:37847430 | DOI:10.1007/s11102-023-01356-x

Extracerebral choroid plexus papilloma in a newborn: a rare presentation

Fetched: November 28th, 2023, 5:01am GMT by Santosh Kumar Singh

BMJ Case Rep. 2023 Nov 23;16(11):e256794. doi: 10.1136/bcr-2023-256794.

ABSTRACT

Choroid plexus papillomas (CPPs) are extremely rare lesions that originate in the central nervous system. Still rarely, these can occur in heterotopic locations. We report a case of aneonate who presented at fourth week of life with a small swelling in the left side of the oropharynx. There were no other symptoms. MRI scan revealed a cystic lesion with the possibility of lymphatic malformation or teratoma. Swelling which was gradually increasing in size was electively excised. Histopathological examination revealed it to be an extracerebral CPP. Postoperative period was uneventful, and baby had no further complications. CPP is a rare lesion and, almost always, cannot be anticipated before surgery. Imaging only helps in surgical planning. Complete excision is curative.

PMID:37996145 | PMC:PMC10668134 | DOI:10.1136/bcr-2023-256794

Nasopharyngeal cyst in an adolescent boy: differential diagnosis - embryological and anatomical considerations

Fetched: November 28th, 2023, 5:01am GMT by Anastasios Goulioumis

BMJ Case Rep. 2023 Nov 22;16(11):e256945. doi: 10.1136/bcr-2023-256945.

ABSTRACT

In the current article, we present a case of an adolescent boy with a nasopharyngeal cyst that induced nasal and Eustachian tube obstruction. Nasopharyngeal cysts can be found incidentally during imaging examinations such as MRI; however, a symptomatic nasopharyngeal cyst is a rare finding in the paediatric population. The cyst was treated successfully by marsupialisation, and the histological diagnosis revealed an adenoidal retention cyst. The differential diagnosis of a nasopharyngeal cyst is always challenging since developmental cysts such as Rathke's pouch cysts, Torwaldt's and branchial cleft cysts may be encountered at the nasopharynx. The current article also intends to present the diagnostic and therapeutic approach to a nasopharyngeal cyst, emphasising anatomical and embryological considerations that address its differential diagnosis.

PMID:37993143 | PMC:PMC10668190 | DOI:10.1136/bcr-2023-256945

Gonadotropin-secreting and thyrotropin-secreting pituitary adenomas: A single-center experience

Fetched: November 28th, 2023, 5:01am GMT by Manjiri Karlekar

Arch Endocrinol Metab. 2023 Nov 17;68:e230072. doi: 10.20945/2359-4292-2023-0072.

ABSTRACT

OBJECTIVE: Data regarding rare FPAs from India, a resource limited setting, are limited. We describe a case series of rare FPAs from a single center in western India.

MATERIALS AND METHODS: This was a retrospective case record review of patients diagnosed between January 2010 and July 2022. The diagnosis was based on biochemical(inappropriately elevated serum FSH/LH) and pathologic (positive immunostaining for FSH/LH) features in patients with FGA, and elevated serum thyroid hormones and normal/elevated TSH in patients with TSHomas.

RESULTS: We identified 11 patients with a total of six FGAs (median age 43.5 years, five men, one FGA cosecreting TSH, median largest dimension 40 mm, range 33-60 mm) and six TSHomas (median age 34.5 years, four women, two TSHomas cosecreting GH, median largest dimension 42.5 mm, range 13-60 mm). Symptoms of sellar mass effects led to pituitary imaging in most patients with FGA. Patients with TSHomas had symptoms of excess hormone secretion (GH/TSH) or sellar mass effects. The TSHomas that cosecreted GH/FSH were larger than those secreting only TSH. Transsphenoidal resection was the most common first-line therapy but significant residual disease was frequent (3 out of 6 FGAs and 4 out of 5 TSHomas).

CONCLUSION: This is the first and second case series of FGAs and TSHomas, respectively, from India. In this study, TSHomas presented at younger age, were larger andhad low surgical cure rates.

PMID:37988667 | DOI:10.20945/2359-4292-2023-0072

Lymphoma of the central nervous system originating from the septum pellucidum region: Two case reports with literature review

Fetched: November 28th, 2023, 5:01am GMT by Dawei Chen

Medicine (Baltimore). 2023 Nov 17;102(46):e35954. doi: 10.1097/MD.0000000000035954.

ABSTRACT

RATIONALE: Non-Hodgkin lymphoma affecting the brain, eyes, and cerebrospinal fluid without systemic spread is known as primary central nervous system lymphoma (PCNSL). While intracerebroventricular PCNSL is commonly found in the lateral ventricles and the third and fourth ventricles, the occurrence of PCNSL originating from the septum pellucidum is extremely rare.

PATIENT CONCERNS: Two patients presented with recent memory loss and high cranial pressure.

DIAGNOSES: Magnetic resonance imaging revealed a clear enhancing lesion in the septum pellucidum region. Pathological examination confirmed that both cases were primary large B-cell lymphoma GCB (germinal center B-cell-like) subtypes located in an "immune-privileged" area.

INTERVENTIONS: Both patients underwent total tumor resection, and the procedures were successfully completed without surgical complications.

OUTCOMES: Over a 1-year period, treatment included four cycles of high-dose methotrexate combined with temozolomide. During the follow-up period (19-23 months), no recurrence of the lymphoma was observed.

LESSONS: In cases of PCNSL in the septum pellucidum, it is crucial to consider it as a potential differential diagnosis for intraventricular tumors. Surgical interventions should focus on maximizing tumor resection while ensuring the protection of critical structures like the fornix and peripheral neural components. The role of surgery compared to biopsy, as well as the long-term complications, necessitates extended follow-up. Additionally, an individualized treatment approach, considering factors such as age, Karnofsky performance score, and organ function assessment, can lead to positive outcomes.

PMID:37986283 | PMC:PMC10659664 | DOI:10.1097/MD.0000000000035954

Prognostic scoring system for surgical treatment of intramedullary spinal cord metastases

Fetched: November 28th, 2023, 5:01am GMT by Roberto Gazzeri

J Clin Neurosci. 2023 Dec;118:90-95. doi: 10.1016/j.jocn.2023.10.016. Epub 2023 Oct 27.

ABSTRACT

Although rare, intramedullary spinal cord metastases (ISCMs) are on the rise, most likely due to prolonged survival and improved outcomes as a result of the advances in cancer treatment for cancer patients. While the management of these lesions remains controversial, surgery for ISCM has recently been advocated for selected patients. We performed a retrospective analysis on 30 patients who were surgically treated for intramedullary spinal cord metastases in order to determine a preoperative prognostic scoring system to guide patient selection for surgical interventions. The scoring system was designed to decide between surgery or other therapeutic procedures. The five parameters selected and employed in the assessment system were: 1) patient's general condition, 2) age, 3) primary site of the cancer, 4) number of other extramedullary metastases and 5) severity of neurologic symptoms. Prognosis could not be predicted from a single parameter. These five factors were added together to give a prognostic score between 1 and 10. The average survival period of patients with a prognostic score between 1 and 3 points was 3 months; 11 patients with a score of 4 and 5 points had a mean survival of 7.63 months, while patients with a prognostic score between 6 and 10 was 14.8 months. According to our prognostic scoring system for surgical treatment of ISCM, surgery should be performed in those patients who score above 6 points, while radiotherapy/chemotherapy or palliative care is recommended for those who score between 1 and 3 points. A prognostic score of 4 and 5 represents a grey area where surgeons must use their judgment on whether to intervene either medically or surgically. This scoring system could facilitate decision-making in the management of patients with intramedullary spinal cord metastases.

PMID:37897816 | DOI:10.1016/j.jocn.2023.10.016

Permalink for 'Neoadjuvant Chemotherapy with Laser Interstitial Thermal Therapy in Central Nervous System Neuroblastoma: Illustrative Case and Literature Review'

Neoadjuvant Chemotherapy with Laser Interstitial Thermal Therapy in Central Nervous System Neuroblastoma: Illustrative Case and Literature Review

Fetched: November 26th, 2023, 5:01am GMT by Jason E Chung

Brain Sci. 2023 Oct 26;13(11):1515. doi: 10.3390/brainsci13111515.

ABSTRACT

Primitive neuroectodermal tumors of the central nervous system, or CNS neuroblastoma, are rare neoplasms in children. Recently, methylation profiling enabled the discovery of four distinct entities of these tumors. The current treatment paradigm involves surgical resection followed by chemotherapy and radiation. However, upfront surgical resection carries high surgical morbidity in this patient population due to their young age, tumor vascularity, and often deep location in the brain. We report a case of CNS neuroblastoma that can be successfully treated with neoadjuvant chemotherapy followed by minimally invasive laser interstitial thermal therapy and radiation. The patient has complete treatment with no evidence of recurrence at one year follow-up. This case illustrates a potential paradigm shift in the treatment of these rare tumors can be treated using minimally invasive surgical approach to achieve a favorable outcome.

PMID:38002476 | PMC:PMC10669297 | DOI:10.3390/brainsci13111515

Metastases to the pituitary gland: insights from the German pituitary tumor registry

Fetched: November 25th, 2023, 5:01am GMT by Linus Haberbosch

Pituitary. 2023 Dec;26(6):708-715. doi: 10.1007/s11102-023-01361-0. Epub 2023 Oct 30.

ABSTRACT

Metastatic involvement of the pituitary gland is a rare but clinically significant phenomenon, that often poses diagnostic and therapeutic challenges. The aim of this study was to provide a comprehensive analysis of the origin of pituitary metastases using data from the German Pituitary Tumor Registry, one of the globally largest collections of pituitary pathology specimens. Here, we report data from a retrospective analysis of patients with metastases to the pituitary registered between 1990 and 2022. Out of 17,896 pituitary cases in the registry during this period, a total of 96 metastases to the pituitary gland were identified, accounting for 0.5% of all pituitary tumors in the registry. The mean age of the patients was 64 years. Breast cancer was identified as the primary tumor in 25% of total cases (n = 24/96) and in 50% of female patients. The second most prevalent primary tumor was lung cancer (18.75%, n = 18/96), followed by renal cell carcinoma (14.58%, n = 14/96). In comparison to current meta-analyses, this cohort shows a higher prevalence of metastases originating from the kidney. Furthermore, in contrast to the existing literature, no case of primary thyroid tumor was identified. Our study highlights the importance of pituitary metastases as a differential diagnosis in patients presenting with pituitary tumors.

PMID:37899389 | PMC:PMC10665242 | DOI:10.1007/s11102-023-01361-0

A case report of pituitary neuroendocrine tumor manifesting as severe conjunctival chemosis

Fetched: November 25th, 2023, 5:01am GMT by Shun Yamamuro

BMC Ophthalmol. 2023 Nov 22;23(1):479. doi: 10.1186/s12886-023-03224-5.

ABSTRACT

BACKGROUND: Conjunctival chemosis (CC) is an extremely rare symptom of pituitary neuroendocrine tumor (PitNET). We report an extremely rare case of PitNET manifesting as severe CC.

CASE PRESENTATION: A 48-year-old male was admitted to our hospital with severe CC, proptosis, and ptosis of the right eye. Magnetic resonance imaging demonstrated the tumor mass invading the cavernous sinus (CS) with cystic lesion. The patient underwent emergent endoscopic transsphenoidal surgery, and the pathological diagnosis was PitNET. CC of the right eye remarkably improved after the surgery. Glucocorticoid therapy was performed for right oculomotor nerve palsy, which rapidly improved. The postoperative course was uneventful and the patient was discharged from our hospital without hormone replacement.

CONCLUSIONS: CC caused by CS invasion of PitNET can be cured by early surgical treatment. Therefore, PitNET is important to consider in the differential diagnosis of CC.

PMID:37993825 | PMC:PMC10666417 | DOI:10.1186/s12886-023-03224-5

BEAST ON HER SHOULDER: A RARE PRESENTATION OF PEDUNCULAR VISUAL HALLUCINATION IN A CASE OF CRANIOPHARYNGIOMA

Fetched: November 25th, 2023, 5:01am GMT by Saurabh Shekhar

Psychiatr Danub. 2023 Winter;35(4):595-597. doi: 10.24869/psyd.2023.595.

NO ABSTRACT

PMID:37992107 | DOI:10.24869/psyd.2023.595

Pilocytic astrocytoma in adults: Histopathological, immunohistochemical and molecular study with clinical association

Fetched: November 22nd, 2023, 5:01am GMT by Débora Salles

Pathol Res Pract. 2023 Dec;252:154942. doi: 10.1016/j.prp.2023.154942. Epub 2023 Nov 14.

ABSTRACT

Pilocytic astrocytoma is the most common primary CNS neoplasm in children and adolescents, rare after the first two decades of life. While some authors report a favorable prognosis in the adult age group with the tumor, others have associated it with higher mortality. The molecular alteration most observed in cases of pilocytic astrocytoma in the pediatric group is the BRAF-KIAA1549 gene fusion, and there are still few studies confirming the presence of this fusion in the adult population. This work investigated genetic alterations involving the 7q34 region in BRAF gene in 21 adult individuals with pilocytic astrocytoma, by FISH. In addition, was identified the immunohistochemical expression of BRAFV600E, correlating these findings with histopathological and clinical ones. BRAF-KIAA1549 fusion appeared in only one case, while in two other cases were found deletions related to the FAM131B-BRAF fusion, suggesting that maybe the latter is more frequently in this population. Through the evaluation of immunoreactivity, 71% of the cases were considered positive and 29% negative. Cases considered positive for BRAFV600E immunoreactivity can potentially be treated through drug therapy with BRAF inhibitors; however, it is always recommended to carry out a molecular study for diagnostic confirmation. This is the first Brazilian study that aimed to investigate possible genetic alterations in the BRAF gene in pilocytic astrocytomas, specifically in adults. Only 1 patient died, but due to operative complications and not the disease itself, suggesting a good evolution of these individuals.

PMID:37984046 | DOI:10.1016/j.prp.2023.154942

Clinical impact of molecular profiling in rare brain tumors

Fetched: November 22nd, 2023, 5:01am GMT by Drew Pratt

Curr Opin Neurol. 2023 Dec 1;36(6):579-586. doi: 10.1097/WCO.0000000000001211. Epub 2023 Oct 4.

ABSTRACT

PURPOSE OF REVIEW: The purpose of this review is to describe the commonly used molecular diagnostics and illustrate the prognostic importance to the more accurate diagnosis that also may uncover therapeutic targets.

RECENT FINDINGS: The most recent WHO Classification of Central Nervous System Tumours (2021) lists over 100 distinct tumor types. While traditional histology continues to be an important component, molecular testing is increasingly being incorporated as requisite diagnostic criteria. Specific molecular findings such as co-deletion of the short arm of chromosome 1 (1p) and long arm of chromosome 19 (19q) now define IDH-mutant gliomas as oligodendroglioma. In recent years, DNA methylation profiling has emerged as a dynamic tool with high diagnostic accuracy. The integration of specific genetic (mutations, fusions) and epigenetic (CpG methylation) alterations has led to diagnostic refinement and the discovery of rare brain tumor types with distinct clinical outcomes. Molecular profiling is anticipated to play an increasing role in routine surgical neuropathology, although costs, access, and logistical concerns remain challenging.

SUMMARY: This review summarizes the current state of molecular testing in neuro-oncology highlighting commonly used and developing technologies, while also providing examples of new tumor types/subtypes that have emerged as a result of improved diagnostic precision.

PMID:37973025 | DOI:10.1097/WCO.0000000000001211

scAN1.0: A reproducible and standardized pipeline for processing 10X single cell RNAseq data

Fetched: November 22nd, 2023, 5:01am GMT by Maxime Lepetit

In Silico Biol. 2023;15(1-2):11-21. doi: 10.3233/ISB-220252.

ABSTRACT

Single cell transcriptomics has recently seen a surge in popularity, leading to the need for data analysis pipelines that are reproducible, modular, and interoperable across different systems and institutions.To meet this demand, we introduce scAN1.0, a processing pipeline for analyzing 10X single cell RNA sequencing data. scAN1.0 is built using the Nextflow DSL2 and can be run on most computational systems. The modular design of Nextflow pipelines enables easy integration and evaluation of different blocks for specific analysis steps.We demonstrate the usefulness of scAN1.0 by showing its ability to examine the impact of the mapping step during the analysis of two datasets: (i) a 10X scRNAseq of a human pituitary gonadotroph tumor dataset and (ii) a murine 10X scRNAseq acquired on CD8 T cells during an immune response.

PMID:37927254 | DOI:10.3233/ISB-220252

Capturing evolving definitions of 12 select rare CNS tumors: a timely report from CBTRUS and NCI-CONNECT

Fetched: November 20th, 2023, 5:01am GMT by Mackenzie Price

J Neurooncol. 2023 Nov;165(2):279-290. doi: 10.1007/s11060-023-04480-7. Epub 2023 Nov 19.

ABSTRACT

PURPOSE: Incidence, prevalence, and survival are population-based statistics describing cancer burden. The National Cancer Institute's (NCI) Comprehensive Oncology Network Evaluating Rare CNS Tumors (NCI-CONNECT) specializes in tumor biology and outcomes for 12 rare CNS tumor types selected for their importance in adults, research interest, or potential for targeted treatment. The aim of this study was to update incidence, prevalence, and survival statistics for these tumors.

METHODS: The Central Brain Tumor Registry of the United States (CBTRUS) database, a combined dataset of Centers for Disease Control and Prevention's (CDC) National Program of Cancer Registries (NPCR) and NCI's Surveillance, Epidemiology and End Results (SEER) data, was used to calculate average annual age-adjusted incidence rates (AAAIR) per 100,000 population overall and by sex, race-ethnicity, and age for diagnosis years 2008-2019. Incidence time trends were calculated for diagnosis years 2004-2019. NPCR data were used to calculate relative survival rates. Point prevalence on December 31, 2019 was estimated using annual age-specific incidence and survival.

RESULTS: AAAIR was 1.47 per 100,000 for these tumors combined, with highest incidence in ependymomas (AAAIR = 0.41/100,000). Most tumor types were more common in males, adults (ages 40 + years) or children (ages < 15 years), and non-Hispanic White individuals. Ependymomas were the most prevalent tumor type (19,320 cases) followed by oligodendrogliomas (14,900 cases). Ependymomas had the highest five-year survival (90.6%) and primary CNS sarcomas the lowest (7.7%).

CONCLUSIONS: These data provide means to measure the impact of clinical care and evaluate new therapies and the evolving histopathology definitions in rare CNS tumor types.

PMID:37980692 | DOI:10.1007/s11060-023-04480-7

Permalink for 'Comprehensive analysis reveals potential therapeutic targets and an integrated risk stratification model for solitary fibrous tumors'

Comprehensive analysis reveals potential therapeutic targets and an integrated risk stratification model for solitary fibrous tumors

Fetched: November 20th, 2023, 5:01am GMT by Renjing Zhang

Nat Commun. 2023 Nov 18;14(1):7479. doi: 10.1038/s41467-023-43249-4.

ABSTRACT

Solitary fibrous tumors (SFTs) are rare mesenchymal tumors with unpredictable evolution and with a recurrence or metastasis rate of 10-40%. Current medical treatments for relapsed SFTs remain ineffective. Here, we identify potential therapeutic targets and risk factors, including IDH1 p.R132S, high PD-L1 expression, and predominant macrophage infiltration, suggesting the potential benefits of combinational immune therapy and targeted therapy for SFTs. An integrated risk model incorporating mitotic count, density of Ki-67+ cells and CD163+ cells, MTOR mutation is developed, applying a discovery cohort of 101 primary non-CNS patients with negative tumor margins (NTM) and validated in three independent cohorts of 210 SFTs with the same criteria, and in 36 primary CNS SFTs with NTM. Compared with the existing models, our model shows significantly improved efficacy in identifying high-risk primary non-CNS and CNS SFTs with NTM for tumor progression.Our findings hold promise for advancing therapeutic strategies and refining risk prediction in SFTs.

PMID:37980418 | PMC:PMC10657378 | DOI:10.1038/s41467-023-43249-4

Permalink for 'Analysis of False-negative Findings of the Incomparable Accuracy and Swiftness of Flow Cytometric Diagnosis of Primary Central Nervous System Lymphoma'

Analysis of False-negative Findings of the Incomparable Accuracy and Swiftness of Flow Cytometric Diagnosis of Primary Central Nervous System Lymphoma

Fetched: November 19th, 2023, 5:01am GMT by Hayato Takeuchi

Neurol Med Chir (Tokyo). 2023 Nov 15;63(11):495-502. doi: 10.2176/jns-nmc.2023-0029. Epub 2023 Oct 18.

ABSTRACT

Primary central nervous system lymphoma (PCNSL), a relatively rare brain tumor, bears a dire prognosis. On occasion, the rapid progression of the tumor makes immediate diagnosis and initiation of therapy imperative. To achieve swift diagnosis, we adopt flow cytometry (FCM) in addition to conventional histopathology. This study aimed to reveal the utility of FCM diagnosis for PCNSL and the cause of false-negative results of FCM diagnosis. We investigated 33 patients with suspected PCNSL on neuroradiological findings and received both FCM and histological diagnosis. The patients' electronic medical records were investigated, and histological findings, results of FCM, and other clinical data were evaluated. Overall, 27 patients (14 males and 13 females) were diagnosed with PCNSL by histological confirmation. The median age at diagnosis was 68 years. FCM analysis showed lymphoma pattern in 24 cases; however, FCM results did not show lymphoma pattern (sensitivity: 88.9%, specificity: 100%) in the other three lymphoma cases (FCM discordant: FCM-D) and six nonlymphomatous tumor cases. Analysis of FCM-D cases showed the infiltration of T lymphocytes or astrocytes into the tumor tissue, indicating tumor microenvironmental reaction; it is assumed that these reactions deceived FCM diagnosis. The survival of FCM-D patients was superior to FCM concordant counterpart, although the difference was not significant (p = 0.459). The diagnosis of PCNSL by FCM is rapid and highly reliable. Some FCM-D cases are PCNSLs with strong tumor microenvironmental reactions.

PMID:37853615 | DOI:10.2176/jns-nmc.2023-0029

Vincristine

Fetched: November 19th, 2023, 5:01am GMT by Ayoola O. Awosika

2023 Oct 30. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–.

ABSTRACT

Vincristine is a chemotherapy medication used to treat various types of cancer, including leukemia, lymphoma, neuroblastoma, and Wilms tumor. Vincristine belongs to the category of vinca alkaloids, a class of drugs that function by impeding the proper division of cancer cells. This drug inhibits cell growth by disrupting mitosis by interfering with microtubule polymerization. Vincristine is also utilized off-label for central nervous system (CNS) tumors, Ewing sarcoma, gestational trophoblastic tumors, multiple myeloma, ovarian cancer, primary CNS lymphoma, small cell lung cancer, and advanced thymoma in adult patients. This therapeutic review evaluates vincristine's role in diverse cancer treatment protocols, including combination therapies. This activity identifies common and rare adverse effects of vincristine while developing strategies for managing and minimizing toxicities associated with the drug. This activity considers long-term outcomes of patients, encompassing disease remission, survival rates, and quality of life. The aim is to equip healthcare professionals with the requisite knowledge and skills for ensuring the safe and effective care of patients receiving vincristine, ultimately contributing to enhanced patient outcomes within the field of oncology practice.

PMID:30725807 | Bookshelf:NBK537122

Permalink for 'Malignant rhabdoid tumor of kidney in an adult patient with positive family history of rhabdoid tumor: A case report and review of literature'

Malignant rhabdoid tumor of kidney in an adult patient with positive family history of rhabdoid tumor: A case report and review of literature

Fetched: November 19th, 2023, 5:01am GMT by Farhood Khaleghi Mehr

Int J Surg Case Rep. 2023 Dec;113:109053. doi: 10.1016/j.ijscr.2023.109053. Epub 2023 Nov 13.

ABSTRACT

INTRODUCTION AND IMPORTANCE: Malignant rhabdoid tumor of kidney (MRTK) is almost exclusive to children. Only 10 cases of adult MRTK have been reported. Here, we present a case of MRTK in an adult patient and discuss its clinical findings, diagnostic challenges, and treatment outcome. We also perform literature review on this issue.

CASE PRESENTATION: Our patient was a 29-year-old woman presented with fever and hematuria. She also mentioned atypical teratoid/rhabdoid tumor of cerebellum in her deceased child. Initial diagnostic work up led to left partial nephrectomy with the pathology report of high grade undifferentiated tumor. Early tumor recurrence necessitated left radical nephrectomy with extensive excision of adjacent tissues. Pathology for second specimen considering disease course and family history was MRTK. Even though chemotherapy was administered, she died few months later due to multiple metastases.

CLINICAL DISCUSSION: Although diagnosis is challenging in all 11 reported cases -including our case- of adult MRTK, immunohistochemistry (i.e., negative reaction for INI-1) in conjunction with clinical and radiological findings are the main tool to reach diagnosis. Treatment options are much more diverse, ranging from surgery to immunotherapy, tyrosine kinase inhibitors, chemotherapy, and combination of these modalities. Prognosis remains dismal with the mean survival period of 7 months.

CONCLUSION: Although extremely rare, MRTK might happen in adults. We report the first case of adult MRTK with positive family history of rhabdoid tumor of CNS, underscoring the importance of family history in reaching the diagnosis and highlighting the role of genetics in this rare disease.

PMID:37976714 | PMC:PMC10684798 | DOI:10.1016/j.ijscr.2023.109053

Secondary Trigeminal Neuralgia Caused by Cerebellopontine Angle Arachnoid Cyst in A 27-Year-Old Female: A Case Report

Fetched: November 19th, 2023, 5:01am GMT by I Wayan Niryana

Acta Neurol Taiwan. 2024 Jun 30;33(2):76-80.

ABSTRACT

PURPOSE: Secondary (TN) caused by an arachnoid cyst in the (CPA) region is a rare finding. Based on the reported literature, there are only 5 cases of secondary trigeminal neuralgia caused by an arachnoid cyst in the cerebellopontine angle region.

CASE REPORT: A 27-year-old female presented to our neurosurgery clinic with a 2-year history of brief episodes of paroxysm pain in the left cheek. The pain was described as an electric shock-like pain triggered by simple stimuli. The magnetic resonance imaging (MRI) showed a well-confined cystic lesion in the left CPA, which compresses the left pons and the cisternal segment of the left trigeminal nerve. The patient was managed operatively to fenestrate the cyst and decompress the trigeminal nerve. The histopathological result of the cyst wall was consistent with an arachnoid cyst. Six months after surgery, the patient is in good health condition and symptom-free without medication.

CONCLUSION: Arachnoid cyst in the CPA region is one of the rare causes of secondary TN. Preoperative imaging with MRI is important to provide better results to differentiate the pathology. Surgical treatment to fenestrate the arachnoid cyst and decompress the trigeminal nerve have a good result and can improve the patient's quality of life.

PMID:37968093

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia

Fetched: November 19th, 2023, 5:01am GMT by Mojca Jensterle

Front Endocrinol (Lausanne). 2023 Oct 30;14:1248231. doi: 10.3389/fendo.2023.1248231. eCollection 2023.

ABSTRACT

INTRODUCTION: The occurrence of prolactinomas in sex hormone treated patients with central hypogonadism is extremely rare.

CASE PRESENTATION: We present a Caucasian male patient who was diagnosed with Kallmann syndrome (KS) at age 15 years. Testosterone treatment was started. At age 26 the patient presented with mild headache. MRI revealed two separate pituitary adenomas along with the absence of the olfactory bulbs. Given the presence of marked hyperprolactinemia (17x upper limit of the reference range) the diagnosis prolactinoma was made and treatment with cabergoline was started which resulted in a complete biochemical response and in marked reduction of both adenomas in size. Hypogonadism persisted and testosterone replacement therapy was continued. Genetic testing of genes associated with pituitary tumors, Kallmann syndrome and idiopathic hypogonadotropic hypogonadism was negative. Mild concomitant hypercalcemia in accordance with familial hypocalciuric hypercalcemia (FHH) prompted mutation analysis of the calcium receptor (CASR) gene which yielded a pathogenic inactivating variant.

DISCUSSION/CONCLUSION: The presence of two separate prolactinomas in a patient with KS has not yet been reported in the literature. The effect of sex hormone treatment of KS patients on the possible development of prolactinoma is unknown at present. The occurance of multiple prolactinomas in our patient suggests increased susceptibility. Although CaSR is expressed in GnRH neurons in mouse brain and CaSR deficient mice have a reduced hypothalamic GnRH neuronal population, the relevance of the CASR gene variant in our patient for the KS phenotype is unclear at present.

PMID:37964948 | PMC:PMC10642931 | DOI:10.3389/fendo.2023.1248231

Permalink for 'Tumor-to-tumor metastasis of an adenocarcinoma to a glioblastoma with review of the literature on tumor-to-tumor metastasis to gliomas'

Tumor-to-tumor metastasis of an adenocarcinoma to a glioblastoma with review of the literature on tumor-to-tumor metastasis to gliomas

Fetched: November 15th, 2023, 5:02am GMT by Georgi Galev

Clin Neuropathol. 2023 Sep-Oct;42(5):190-196. doi: 10.5414/NP301578.

ABSTRACT

Tumor-to-tumor metastasis (TTM) is a process where one tumor metastasizes to another tumor. It is an exceedingly rare phenomenon, particularly in the central nervous system, where it most commonly occurs with meningiomas as the recipient. Herein, we present a case of tumor-to-tumor metastasis of an adenocarcinoma to a glioblastoma in a 75-year-old female. The patient had a history of high-grade ductal carcinoma in situ of the breast 8 years prior, treated with lumpectomy and radiation. She presented with a left fronto-parietal mass. Histologically, the lesion showed a glioblastoma, IDH-wildtype, WHO grade 4, associated with a metastatic adenocarcinoma (positive for estrogen receptor, progesterone receptor, and mammaglobin), suggesting a breast primary. The patient passed away 5 months after surgery. Involvement of glioblastoma by TTM is especially rare; only 1 case of TTM to glioblastoma is thus far reported in the English literature. The mechanism by which TTM occurs is poorly understood. TTM may be the first presentation of an occult malignancy and warrants thorough clinical, laboratory, and imaging investigation.

PMID:37779445 | DOI:10.5414/NP301578

A Rare Case of a Balo's Concentric Sclerosis-Like Lesion in a Young Adult Woman

Fetched: November 14th, 2023, 5:01am GMT by Kailee Vickaryous

Cureus. 2023 Oct 10;15(10):e46803. doi: 10.7759/cureus.46803. eCollection 2023 Oct.

ABSTRACT

Balo's concentric sclerosis (BCS) is a rare demyelinating disorder of the central nervous system (CNS). Distinguishing BCS from other demyelinating disorders such as multiple sclerosis (MS) or from neoplasms can be difficult clinically; however, MRI aids in the identification of the disease. We describe the case of a 37-year-old female presenting with sudden onset of neurologic symptoms associated with a solitary rounded white-matter lesion suggestive of BCS. This rare disorder can present with heterogenous symptoms, imaging findings, and response to treatment. Furthermore, more in-depth analysis of the presentations and treatment outcomes of BCS are necessary in order to create a more robust plan of care.

PMID:37954773 | PMC:PMC10635639 | DOI:10.7759/cureus.46803

Blue rubber bleb nevus syndrome in a patient on anticoagulation: a management dilemma

Fetched: November 14th, 2023, 5:01am GMT by Aditya Mithanthaya

BMJ Case Rep. 2023 Nov 10;16(11):e256702. doi: 10.1136/bcr-2023-256702.

ABSTRACT

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterised by vascular malformations mostly of the skin and gastrointestinal tract and less commonly of the central nervous system, liver, thyroid, spleen and lungs. We report a rare case of BRBNS in a patient on anticoagulation who presented with gastrointestinal bleeding and no cutaneous or other organ involvement. We discuss the difficulty in balancing bleeding and clotting risks in this patient who developed two episodes of venous thromboembolism while off anticoagulation to minimise gastrointestinal bleeding. We also highlight the potential role of somatostatin analogues such as lanreotide in decreasing gastrointestinal bleeding risk in BRBNS, particularly in the setting of anticoagulation. The occurrence of two episodes of venous thromboembolism within a short time frame in this case, in conjunction with known associations between other vascular anomalies and venous thromboembolism, raises the question of whether BRBNS may be associated with a prothrombotic state.

PMID:37949469 | PMC:PMC10649631 | DOI:10.1136/bcr-2023-256702

Imaging Features of Primary Intraosseous Meningiomas

Fetched: November 14th, 2023, 5:01am GMT by Lu Gao

J Comput Assist Tomogr. 2023 Nov-Dec 01;47(6):934-939. doi: 10.1097/RCT.0000000000001492. Epub 2023 Jun 9.

ABSTRACT

OBJECTIVE: To describe the imaging features of primary intraosseous meningiomas (PIMs) to aid an accurate diagnosis.

METHODS: Clinical materials and radiological data for 9 patients with pathologically confirmed PIMs were reviewed comprehensively.

RESULTS: Most lesions involved inner and outer plates of the calvaria and all were relatively well circumscribed. Upon computed tomography, portions of the solid neoplasm were hyperattenuated or isoattenuated. Hyperostosis was found in many lesions, but calcification was seen rarely. On magnetic resonance imaging, most neoplasms were hypointense on T1-weighted images, hyperintense on T2-weighted images, and heterogeneous on fluid-attenuated inversion recovery images. In most cases, the soft tissue of neoplasms showed hyperintense on diffusion-weighted imaging and hypointense on apparent diffusion coefficient. All lesions were obviously enhanced after gadolinium administration. Each patient accepted surgical treatment and recurrence was not observed during follow-up.

CONCLUSIONS: Primary intraosseous meningiomas are very rare tumors that occur usually in later life. They are well-defined and tend to involve the inner and outer plates of the calvaria, with a classic appearance of hyperostosis on computed tomography. Primary intraosseous meningiomas display hypointense on T1-weighted images, hyperintense on T2-weighted images, and hyperattenuated or isoattenuated on computed tomography. Hyperintense on diffusion-weighted imaging, hypointense on apparent diffusion coefficient can also be found. Obvious enhancement supplied additional information for an accurate diagnosis. A neoplasm with these features should raise the suspicion of a PIM.

PMID:37948369 | DOI:10.1097/RCT.0000000000001492

Permalink for 'Glioblastoma/high-grade glioma with a primitive neuronal component including rhabdoid differentiation that was difficult to diagnose: A case report'

Glioblastoma/high-grade glioma with a primitive neuronal component including rhabdoid differentiation that was difficult to diagnose: A case report

Fetched: November 14th, 2023, 5:01am GMT by Motona Kumagai

Pathol Res Pract. 2023 Nov;251:154830. doi: 10.1016/j.prp.2023.154830. Epub 2023 Oct 10.

ABSTRACT

Glioblastoma with a primitive neuronal component (GBM-PNC) is a rare subtype. In this case, GBM-PNC was difficult to diagnose conclusively because the specimen consisted of only a few high-grade glioma components. A 73-year-old woman presented with sensory aphasia and minor right-sided hemiplegia. Imaging revealed a neoplastic lesion with a maximum diameter of approximately 5 cm in the left frontal lobe for which surgery was performed. Histologically, most atypical cells were immature components with high nuclear-cytoplasmic ratios and immunopositive for neuroendocrine markers. Minor components of atypical glial cells were found at tumor margins. Rhabdoid cells were observed in undifferentiated components. Immunostaining was positive for glial fibrillary acidic protein (GFAP), nestin, and Olig2 in both undifferentiated and atypical glial cells. The major undifferentiated components showed significantly low GFAP, nestin, and Olig2 expression levels within the foci of the undifferentiated components, in contrast to the atypical glial component, neurofilaments and synaptophysin were immunopositive for undifferentiated components. Rhabdoid cells were immunopositive for myogenin, desmin, and HHF35, suggesting their differentiation into striated muscles. This was a particularly rare case because rhabdoid differentiation was observed in PNC.

PMID:37890269 | DOI:10.1016/j.prp.2023.154830

Co-occurrence of glioma and multiple sclerosis: Prevailing theories and emerging therapies

Fetched: November 11th, 2023, 5:01am GMT by Enoch Kim

Mult Scler Relat Disord. 2023 Nov;79:105027. doi: 10.1016/j.msard.2023.105027. Epub 2023 Sep 24.

ABSTRACT

Though the concurrence of primary brain tumors and multiple sclerosis (MS) is exceedingly rare, instances have been noted in the literature as early as 1949. Given these observations, researchers have proposed various ideas as to how these malignancies may be linked to MS. Due to insufficient data, none have gained traction or been widely accepted amongst neurologists or neuro-oncologists. What is abundantly clear, however, is the mounting uncertainty faced by clinicians when caring for these individuals. Concerns persist about the potential for disease modifying therapies (DMTs) to initiate or promote tumor growth and progression, and to date, there are no approved treatments capable of mitigating both MS disease activity and tumor growth, let alone established guidelines that clinicians may refer to. Collectively, these gaps in the literature impose limitations to optimizing the care and management of this population. As such, our hope is to stimulate further discussion of this topic and prompt future investigations to explore novel treatment options and advance our understanding of these concurrent disease processes. To this end, the chief objective of this article is to evaluate proposed ideas of how the diseases may be linked, outline emerging therapies for both MS and brain tumors, and describe evidence-based approaches to diagnosing and treating this patient population.

PMID:37801959 | DOI:10.1016/j.msard.2023.105027

Pediatric low-grade glioma: State-of-the-art and ongoing challenges

Fetched: November 10th, 2023, 5:01am GMT by Jason Fangusaro

Neuro Oncol. 2023 Nov 7:noad195. doi: 10.1093/neuonc/noad195. Online ahead of print.

ABSTRACT

The most common childhood central nervous system (CNS) tumor is pediatric low-grade glioma (pLGG), representing 30%-40% of all CNS tumors in children. Although there is high associated morbidity, tumor-related mortality is relatively rare. pLGG is now conceptualized as a chronic disease, underscoring the importance of functional outcomes and quality-of-life measures. A wealth of data has emerged about these tumors, including a better understanding of their natural history and their molecular drivers, paving the way for the use of targeted inhibitors. While these treatments have heralded tremendous promise, challenges remain about how to best optimize their use, and the long-term toxicities associated with these inhibitors remain unknown. The International Pediatric Low-Grade Glioma Coalition (iPLGGc) is a global group of physicians and scientists with expertise in pLGG focused on addressing key pLGG issues. Here, the iPLGGc provides an overview of the current state-of-the-art in pLGG, including epidemiology, histology, molecular landscape, treatment paradigms, survival outcomes, functional outcomes, imaging response, and ongoing challenges. This paper also serves as an introduction to 3 other pLGG manuscripts on (1) pLGG preclinical models, (2) consensus framework for conducting early-phase clinical trials in pLGG, and (3) pLGG resistance, rebound, and recurrence.

PMID:37944912 | DOI:10.1093/neuonc/noad195

Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations

Fetched: November 10th, 2023, 5:01am GMT by Luis Miguel Chinchilla-Tábora

Int Med Case Rep J. 2023 Nov 3;16:709-714. doi: 10.2147/IMCRJ.S428201. eCollection 2023.

ABSTRACT

Hemangioblastoma (HB) is a Central Nervous System (CNS) tumor with a generally favorable behavior and prognosis, classified as WHO grade 1. Sporadic HB is not related to any inherited disease, and it usually appears in a single location. Sporadic or VHL-related HBs show variable patterns of growth velocity. Cases of growing HB can cause mild symptoms such as headache, but some cases develop serious complications such as accumulation of cerebrospinal fluid in the brain with secondary neurological damage sometimes being irreversible when early treatment is not started. Our case showed some clinical characteristics more frequently observed in VHL-related HB rather than sporadic HB, and the presence of alterations in MDM2 and EGFR that could be related to the oncogenesis of these tumors. Even when the treatment of choice for HB is surgery, the presence of these genetic alterations could open a new window for research aimed at assessing the possibility of new therapies with TKIs-EGFR and anti-MDM2 inhibitors in those HB cases with multifocal recurrences or cases with an adverse clinical behavior.

PMID:37941973 | PMC:PMC10629408 | DOI:10.2147/IMCRJ.S428201

Research progress in the diagnosis of primary vitreoretinal lymphoma

Fetched: November 10th, 2023, 5:01am GMT by Y R Tuo

Zhonghua Yan Ke Za Zhi. 2023 Nov 11;59(11):954-959. doi: 10.3760/cma.j.cn112142-20230717-00004.

ABSTRACT

Primary vitreoretinal lymphoma (PVRL), the most prevalent intraocular lymphoma, is a subtype of primary central nervous system lymphoma (PCNSL) that often clinically mimics uveitis. It is a rare intraocular malignancy characterized by a dismal prognosis. The gold standard for PVRL diagnosis remains cytopathological examination. Additionally, auxiliary tests, such as clonal detection of tumor cells and cytokine analysis, have been employed. Moreover, recent years have witnessed the gradual development of novel molecular biomarkers and detection techniques. To optimize diagnostic strategies for PVRL patients, a comprehensive approach that integrates clinical manifestations, cytological examination, immunological assessment, and molecular biology analysis is indispensable. This article provides a comprehensive review of recent advancements in the diagnosis of primary vitreoretinal lymphoma.

PMID:37936364 | DOI:10.3760/cma.j.cn112142-20230717-00004

Permalink for 'Paraneoplastic Neuromyelitis Optica Spectrum Disorder: A Rare Case of Advanced Breast Cancer with Intractable Nausea and Vomiting'

Paraneoplastic Neuromyelitis Optica Spectrum Disorder: A Rare Case of Advanced Breast Cancer with Intractable Nausea and Vomiting

Fetched: November 9th, 2023, 5:01am GMT by Daisuke Miyagishima

Am J Case Rep. 2023 Nov 7;24:e941808. doi: 10.12659/AJCR.941808.

ABSTRACT

BACKGROUND Neuromyelitis optica spectrum disorder (NMOSD) is a demyelinating disease of the central nervous system that includes the triad of transverse myelitis, optic neuritis, and area postrema syndrome (APS), characterized by intractable nausea and vomiting. NMOSD can be part of a paraneoplastic syndrome and is associated with seropositivity to aquaporin-4 (AQP-4). We present a patient with uncontrollable nausea and vomiting who developed herpes zoster and acute myelitis and was finally diagnosed with paraneoplastic NMOSD due to breast cancer. CASE REPORT A 51-year-old woman was hospitalized due to 2 weeks of intractable nausea and vomiting. Although contrast-enhanced thoracoabdominal computed tomography (CT) on day 4 suggested breast cancer in her left breast, the etiology of her symptoms remained unknown. On day 13, she developed herpes zoster, followed by acute myelitis on day 25. Magnetic resonance imaging (MRI) showing longitudinal extensive transverse myelitis and an elevated serum AQP-4 antibody level led to the diagnosis of NMOSD. Brain MRI detected a small lesion in the dorsal medulla oblongata, which explained the preceding APS. After starting intravenous methylprednisolone pulse therapy, her nausea and vomiting rapidly subsided. Breast cancer was resected on day 63, and immunohistochemical staining revealed overexpression of AQP-4 in the tumor cells, suggesting paraneoplastic NMOSD. CONCLUSIONS This report has highlighted the presentation and diagnosis of NMOSD and supports the possibility that this can present as part of a paraneoplastic syndrome. In addition, diagnosis of NMOSD preceded by APS requires meticulous history taking and careful interpretation of MRI in the dorsal medulla oblongata.

PMID:37933098 | PMC:PMC10642718 | DOI:10.12659/AJCR.941808

Lymphoplasmacyte-Rich Meningioma or IgG4-Related Disease: Walking the Thin Line

Fetched: November 8th, 2023, 5:01am GMT by Ariba Zaidi

Neurol India. 2023 Sep-Oct;71(5):1007-1010. doi: 10.4103/0028-3886.388117.

ABSTRACT

Lymphoplasmacyte-rich meningioma (LP meningioma) is a rare form of grade 1 meningioma. It shows dense lymphoplasmacytic infiltrate, mimicking an inflammatory lesion. We present a case of Lymphoplasmacyte-rich (LP) meningioma in the left parasagittal region in a 47-year-old female. On histological examination, it showed dense lymphoplasmacytic infiltrate masking the meningothelial component. There was dense fibrosis and numerous IgG4-positive plasma cells (100-120/hpf), admixed with lymphocytes and few histiocytes. The meningothelial component was highlighted by epithelial membrane antigen (EMA) immunostain. The patient had normal serum IgG4 level. This case highlights the morphological overlap between LP meningioma and IgG4-related disease. The presence of fibrosis and increased IgG4-positive plasma cells as a major inflammatory component in LP meningioma, as demonstrated in the present case and some other previous studies raise suspicion of its association with IgG4-related disease. However, this hypothesis requires further detailed studies for confirmation.

PMID:37929445 | DOI:10.4103/0028-3886.388117

Primary Dural Acute Lymphoblastic Leukaemia/Lymphoma Masquerading Meningioma: Report of a Case and Review of Literature

Fetched: November 8th, 2023, 5:01am GMT by Sumit Garg

Neurol India. 2023 Sep-Oct;71(5):987-990. doi: 10.4103/0028-3886.388108.

ABSTRACT

Acute lymphoblastic leukaemia/lymphoma (ALL) is a systemic disease which primarily involves bone marrow or lymphoid organs. Extranodal presentation of ALL is uncommon, and ALL presenting as a dural mass is exceedingly rare. Here we present a case of primary dural B-cell ALL which was preoperatively diagnosed as meningioma on clinico-radiological grounds. A 27-year-old female patient presented with left hemicranial headache for one month's duration along with progressive vision loss of in both eye and altered behaviour. Contrast enhanced magnetic resonance imaging (CE-MRI) suggest dural based mass with dural tail sign. Histopathological examination of the resected specimen revealed B-cell ALL. Further systemic investigations didn't suggest any peripheral blood, bone marrow or lymph node involvement. To the best of our knowledge, only two cases of primary dural ALL have been reported in the literature so far. This report highlights the diagnostic difficulty in extramedullary precursor lymphoid neoplasm.

PMID:37929440 | DOI:10.4103/0028-3886.388108

Complete loss of E-cadherin expression in a rare case of metastatic malignant meningioma: a case report

Fetched: November 7th, 2023, 5:01am GMT by Dominik Lisowski

BMC Neurol. 2023 Nov 4;23(1):398. doi: 10.1186/s12883-023-03450-w.

ABSTRACT

BACKGROUND: Hematogenous tumor spread of malignant meningiomas occurs very rarely but is associated with very poor prognosis.

CASE PRESENTATION: We report an unusual case of a patient with a malignant meningioma who developed multiple metastases in bones, lungs and liver after initial complete resection of the primary tumor. After partial hepatic resection, specimens were histologically analyzed, and a complete loss of E-cadherin adhesion molecules was found. No oncogenic target mutations were found. The patient received a combination of conventional radiotherapy and peptide receptor radionuclide therapy (PRRT). Due to aggressive tumor behavior and rapid spread of metastases, the patient deceased after initiation of treatment.

CONCLUSIONS: E-cadherin downregulation is associated with a higher probability of tumor invasion and distant metastasis formation in malignant meningioma. Up to now, the efficacy of systemic therapy, including PRRT, is very limited in malignant meningioma patients.

PMID:37925427 | PMC:PMC10625181 | DOI:10.1186/s12883-023-03450-w

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

Fetched: November 7th, 2023, 5:01am GMT by Zelha Nil

Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11.

ABSTRACT

Misregulation of histone lysine methylation is associated with several human cancers and with human developmental disorders. DOT1L is an evolutionarily conserved gene encoding a lysine methyltransferase (KMT) that methylates histone 3 lysine-79 (H3K79) and was not previously associated with a Mendelian disease in OMIM. We have identified nine unrelated individuals with seven different de novo heterozygous missense variants in DOT1L through the Undiagnosed Disease Network (UDN), the SickKids Complex Care genomics project, and GeneMatcher. All probands had some degree of global developmental delay/intellectual disability, and most had one or more major congenital anomalies. To assess the pathogenicity of the DOT1L variants, functional studies were performed in Drosophila and human cells. The fruit fly DOT1L ortholog, grappa, is expressed in most cells including neurons in the central nervous system. The identified DOT1L variants behave as gain-of-function alleles in flies and lead to increased H3K79 methylation levels in flies and human cells. Our results show that human DOT1L and fly grappa are required for proper development and that de novo heterozygous variants in DOT1L are associated with a Mendelian disease.

PMID:37827158 | PMC:PMC10645550 | DOI:10.1016/j.ajhg.2023.09.009

Pituitary surgery outcome in patients 75 years and older: a retrospective study

Fetched: November 7th, 2023, 5:01am GMT by Marta Garvayo

Acta Neurochir (Wien). 2023 Nov;165(11):3409-3420. doi: 10.1007/s00701-023-05809-x. Epub 2023 Sep 22.

ABSTRACT

BACKGROUND: As the population ages, the number of elderly patients with an indication for pituitary surgery is rising. Information on the outcome of patients aged over 75 is limited. This study reports a large series assessing the feasibility of surgical resection in this specific age range, focusing on surgical complications and postoperative results.

METHODS: A retrospective cohort study of patients with pituitary adenomas and Rathke's cleft cysts was conducted. All patients were aged 75 years or over and treated by a single expert neurosurgical team. A control population included 2379 younger adult patients operated by the same surgeons during the same period.

RESULTS: Between 2008 and 2022, 155 patients underwent surgery. Indication was based on vision impairment in most patients (79%). Median follow-up was 13 months (range: 3-96). The first surgery was performed with an endoscopic transsellar approach, an extended endonasal transtuberculum approach and a microscopic transcranial approach in 96%, 3%, and 1% of patients, respectively. Single surgery was sufficient to obtain volume control in 97% of patients. From Kaplan-Meier estimates, 2-year and 5-year disease control with a single surgery were 97.3% and 86.2%, respectively. Resection higher than 80% was achieved in 77% of patients. No vision worsening occurred. In acromegaly and Cushing's disease, endocrine remission was obtained in 90% of non-invasive adenomas. Surgical complications were noted in 5% of patients, with 30-day mortality, hematoma, cerebrospinal fluid leak, meningitis, and epistaxis occurring in 0.6%, 0.6%, 1.9%, 0.6%, and 1.3% respectively. New endocrine anterior deficits occurred in only 5%, while no persistent diabetes insipidus was noted. Compared with younger patients, the complication rate was not statistically different.

CONCLUSIONS: Surgery beyond the age of 75, mainly relying on an endoscopic endonasal transsellar approach, is effective and safe, provided that patients are managed in tertiary centers.

PMID:37736839 | DOI:10.1007/s00701-023-05809-x

Meningioma as a rare cause of underlying clinical stroke

Fetched: November 3rd, 2023, 5:01am GMT by Leslie Guadalupe Gozá Alfonso

Ugeskr Laeger. 2023 Oct 9;185(41):V05230295.

ABSTRACT

In this case report a 54-year-old woman had an anterior clinoid process meningioma. She was initially diagnosed as having a cerebrovascular disease, however, her stroke-like symptoms were most likely caused by internal carotid artery compression or vasospasm due to meningiomal involvement, but initially overlooked. Meningiomas are rarely reported as a cause of a stroke. A detailed evaluation can provide a high degree of confidence in differentiating stroke and non-stroke medical conditions, known as stroke mimics or chameleons, to be considered when a diagnosis of stroke has not been confirmed.

PMID:37873985

Intracranial Solitary Fibrous Tumor Mimicking Meningioma

Fetched: November 3rd, 2023, 5:01am GMT by Xiaowei Tao

J Craniofac Surg. 2023 Oct 1;34(7):e688-e690. doi: 10.1097/SCS.0000000000009598. Epub 2023 Aug 15.

ABSTRACT

Solitary fibrous tumor (SFT) is a clinically rare tumor derived from mesenchymal spindle cells. Central nervous system SFT represents only 0.09% of tumors occurring on the meninges, while intracranial solitary fibrous tumors (ISFT) are even more rare. Due to the similar genetic characteristics it shares with hemangiopericytoma, in 2016, the World Health Organization (WHO) classified it as a single disease called solitary fibrous tumor (SFT)/hemangiopericytoma. We reported a case of a 60-year-old female with an intracranial solitary fibrous tumor (ISFT). The patient's magnetic resonance imaging showed a mass adhering extensively to the dura mater, with adjacent thickening of the meninges and evidence of a meningeal tail sign. These radiologic findings suggested a meningioma. The tumor was surgically removed and sent for pathologic examination, which confirmed that the tumor was consistent with a solitary fibrous tumor(WHO III). Due to its rarity and similarities with meningioma, ISFT is often misdiagnosed as other types of brain tumors. ISFT is poorly understood and poses a diagnostic challenge. Our case report presents several features suggestive of meningioma, but histopathological examination after surgery confirmed the diagnosis of SFT. Knowledge of these tumors is crucial for neurosurgeons to include them in preoperative differential diagnosis.

PMID:37801720 | DOI:10.1097/SCS.0000000000009598

Intracranial tumor-to-tumor metastasis in an elderly female: An unusual case report

Fetched: November 3rd, 2023, 5:01am GMT by Subhransu Kumar Hota

J Cancer Res Ther. 2023 Jul-Sep;19(5):1480-1482. doi: 10.4103/jcrt.jcrt_1033_21.

ABSTRACT

Tumor-to-tumor metastasis is an extremely rare event, with only 150 reported cases in the literature. Meningioma, renal carcinoma, and tumors of the thyroid are the commonest sites of metastasis. Lung, breast, and GI-tract cancers are the most common types that undergo metastasis. Meningioma is the most common intracranial tumor as recipient of the tumor-to-tumor metastasis. Although breast carcinoma is the most common tumor to metastasize, adenocarcinoma from other organs can also spread to meningiomas, like the ovary and upper gastrointestinal (GI). We report a case of adenocarcinoma metastasis to meningioma with the possibility of primary involvement of the ovary or upper GI. A 77-year-old female patient presented to neurosurgery with episodes of multiple seizures and loss of consciousness. An MRI suggested a left frontotemporal meningioma. The patient underwent craniotomy with mass dissection. Microscopic examinations showed a dual tumor containing both components of meningioma with a metastatic adenocarcinomatous component. The tumor cells were positive for cytokeratin (CK7). Thus, the final diagnosis was made as meningothelial meningiomas (WHO grade I) with metastatic mucinous adenocarcinoma, possible primaries of the ovary or upper GI tract. The patient could not be followed up as we lost the patient a few days after surgery.

PMID:37787337 | DOI:10.4103/jcrt.jcrt_1033_21

A rare case of cerebellar anaplastic pleomorphic xanthoastrocytoma

Fetched: November 3rd, 2023, 5:01am GMT by Krati Agrawal

J Cancer Res Ther. 2023 Jul-Sep;19(5):1465-1467. doi: 10.4103/jcrt.jcrt_1115_21.

ABSTRACT

Pleomorphic xanthoastrocytoma (PXA) is a low-grade glioma comprising 1% of all astrocytomas with an extremely rare anaplastic counterpart usually found in young adults. These tumors are most often cerebral in origin and their presentation in the elderly signifies poor prognosis. As these tumors are an important differential of glioblastoma, diagnosing them accurately is essential for management. We present a 68-year-male with positive cerebellar signs and clinico-radiological impression of cerebellar metastatic deposits, subsequently diagnosed as cerebellar PXA with anaplastic features. The case in discussion is unique in its age, site, and grade of presentation, with key histological features rebuking the clinical and radiological diagnosis of metastasis. The rarity and ambiguous management protocol of these tumors make their documentation an important addition to the existing literature with emphasis on possibility of late presentation and at sites other than the cerebrum.

PMID:37787332 | DOI:10.4103/jcrt.jcrt_1115_21

Permalink for 'Analysis of risk factors and prognostic factors of brain metastasis in gastric cancer: a surveillance, epidemiology and end-results database study'

Analysis of risk factors and prognostic factors of brain metastasis in gastric cancer: a surveillance, epidemiology and end-results database study

Fetched: November 3rd, 2023, 5:01am GMT by Mohammad Ebad Ur Rehman

Sci Rep. 2023 Oct 31;13(1):18664. doi: 10.1038/s41598-023-46109-9.

ABSTRACT

Brain metastasis in gastric cancer (GC) patients is a rare phenomenon that is associated with adverse clinical outcomes and poor survival rates. We conducted a retrospective cohort study to investigate the incidence, risk factors and prognostic factors of brain metastasis in GC patients. Data on sociodemographic and tumor characteristics of GC patients from 2010 to 2019 was extracted from the Surveillance, Epidemiology and End-Results (SEER) database. Descriptive statistics, multivariable logistic and Cox regression were applied on SPSS. Kaplan-Meier-Survival curves and ROC curves were constructed. A total of 59,231 GC patients, aged 66.65 ± 13.410 years were included. Brain metastasis was reported in 368 (0.62%) patients. On logistic regression, the risk of brain metastasis was significantly greater in males, patients aged < 60 years and patients having concurrent bone and lung metastasis. High grade and high N stage were significant risk factors for development of brain metastasis. Patients who had undergone surgery for the primary tumor were at reduced risk for brain metastasis (adjusted odds ratio 0.210, 95% CI 0.131-0.337). The median OS was 3 months in patients with brain metastasis and 17 months in patients without brain metastasis (p < 0.05). On Cox regression, Grade IV tumors and primary antral tumors were significant predictable parameters for poor prognosis. Overall Survival (OS) and Cancer-Specific Survival (CSS) were prolonged in patients who had undergone surgery. Brain metastasis in gastric cancer is associated with significantly worse survival. Employing large-scale screening for high-risk patients holds a promising impact to improve survival rates, but it must be accurately balanced with a comprehensive understanding of clinicopathological aspects for accurate diagnosis and treatment.

PMID:37907578 | PMC:PMC10618536 | DOI:10.1038/s41598-023-46109-9

Lumbar spine epidural meningioma: report of a rare case

Fetched: November 3rd, 2023, 5:01am GMT by Ghassen Gader

Spinal Cord Ser Cases. 2023 Oct 31;9(1):53. doi: 10.1038/s41394-023-00608-z.

ABSTRACT

INTRODUCTION AND IMPORTANCE: Spinal meningiomas are typically intradural lesions. Some may infiltrate the dura mater, thus exhibit direct extradural extension. Pure spinal epidural meningiomas are very rare. Here we present a 64 year-old-male with a purely extradural meningioma, and reviewed 15 previously reported cases from the literature.

CASE PRESENTATION AND CLINICAL DISCUSSION: A 64-year-old male presented with a progressive cauda equine syndrome. When Lumbar spine MRI showed two extradural lesions regarding the L3-L4 level, one was fully removed (i.e., the posterolateral lesion), while the other anterior lesion was left alone (i.e., to avoid potential neurologic sequelae). Pathologically, the lesion was a benign meningioma.

CONCLUSIONS: Spinal epidural meningiomas are rare and should optimally be fully excised at the index surgery.

PMID:37907495 | PMC:PMC10618258 | DOI:10.1038/s41394-023-00608-z

Follicular carcinoma of the thyroid presenting as metastasis in the wall of an arachnoid cyst

Fetched: November 3rd, 2023, 5:01am GMT by Neha Singh

BMJ Case Rep. 2023 Oct 31;16(10):e255865. doi: 10.1136/bcr-2023-255865.

ABSTRACT

The brain is an uncommon site for metastases of differentiated thyroid carcinoma with the most common location being cerebral hemispheres, followed by cerebellum and pituitary gland. Metastasis in the wall of an arachnoid cyst is exceedingly rare with single case report available in the published literature. Arachnoid cyst metastasis from an extraneuraxial malignancy has not been published until. We present a unique case of thyroid carcinoma metastasizing to the wall of an intracranial arachnoid cyst and the most interesting fact is that it was the first clinical manifestation of her malignancy.

PMID:37907313 | PMC:PMC10618989 | DOI:10.1136/bcr-2023-255865

Intensity-modulated radiotherapy for cushing's disease: single-center experience in 70 patients

Fetched: November 2nd, 2023, 5:01am GMT by Xin Lian

Front Endocrinol (Lausanne). 2023 Sep 26;14:1241669. doi: 10.3389/fendo.2023.1241669. eCollection 2023.

ABSTRACT

CONTEXT: Intensity-modulated radiotherapy (IMRT) is a modern precision radiotherapy technique for the treatment of the pituitary adenoma.

OBJECTIVE: Aim to investigate the efficacy and toxicity of IMRT in treating Cushing's Disease (CD).

METHODS: 70 of 115 patients with CD treated with IMRT at our institute from April 2012 to August 2021 were included in the study. The radiation doses were usually 45-50 Gy in 25 fractions. After IMRT, endocrine evaluations were performed every 6 months and magnetic resonance imaging (MRI) annually. Endocrine remission was defined as suppression of 1 mg dexamethasone test (DST) or normal 24-hour urinary free cortisol level (24hUFC). The outcome of endocrine remission, endocrine recurrence, tumor control and complications were retrieved from medical record.

RESULTS: At a median follow-up time of 36.8 months, the endocrine remission rate at 1, 2, 3 and 5 years were 28.5%, 50.2%, 62.5% and 74.0%, respectively. The median time to remission was 24 months (95%CI: 14.0-34.0). Endocrine recurrence was found in 5 patients (13.5%) till the last follow-up. The recurrence-free rate at 1, 2, 3 and 5 years after endocrine remission was 98.2%, 93.9%, 88.7% and 88.7%, respectively. The tumor control rate was 98%. The overall incidence of new onset hypopituitarism was 22.9%, with hypothyroidism serving as the most common individual axis deficiency. Univariate analysis indicated that only higher Ki-67 index (P=0.044) was significant favorable factors for endocrine remission.

CONCLUSION: IMRT was a highly effective second-line therapy with low side effect profile for CD patients. Endocrine remission, tumor control and recurrence rates were comparable to previous reports on FRT and SRS.

PMID:37822603 | PMC:PMC10562628 | DOI:10.3389/fendo.2023.1241669

Plurihormonal PIT1-lineage pituitary neuroendocrine tumors: a clinicopathological study

Fetched: November 2nd, 2023, 5:01am GMT by Z J Duan

Zhonghua Bing Li Xue Za Zhi. 2023 Oct 8;52(10):1017-1024. doi: 10.3760/cma.j.cn112151-20230216-00137.

ABSTRACT

Objective: To investigate the clinicopathological characteristics of plurihormonal PIT1-lineage pituitary neuroendocrine tumors. Methods: Forty-eight plurihormonal PIT1-lineage tumors were collected between January 2018 and April 2022 from the pathological database of Sanbo Brain Hospital, Capital Medical University. The related clinical and imaging data were retrieved. H&E, immunohistochemical and special stains were performed. Results: Out of the 48 plurihormonal PIT1-lineage tumors included, 13 cases were mature PIT1-lineage tumors and 35 cases were immature PIT1-lineage tumors. There were some obvious clinicopathological differences between the two groups. Clinically, the mature plurihormonal PIT1-lineage tumor mostly had endocrine symptoms due to increased hormone production, while a small number of immature PIT1-lineage tumors had endocrine symptoms accompanied by low-level increased serum pituitary hormone; patients with the immature PIT1-lineage tumors were younger than the mature PIT1-lineage tumors; the immature PIT1-lineage tumors were larger in size and more likely invasive in imaging. Histopathologically, the mature PIT1-lineage tumors were composed of large eosinophilic cells with high proportion of growth hormone expression, while the immature PIT1-lineage tumors consisted of chromophobe cells with a relatively higher expression of prolactin; the mature PIT1-lineage tumors had consistently diffuse cytoplasmic positive staining for keratin, while the immature PIT1-lineage tumors had various expression for keratin; the immature PIT1-lineage tumors showed more mitotic figures and higher Ki-67 proliferation index; in addition, 25.0% (12/48) of PIT1-positive plurihormonal tumors showed abnormal positive staining for gonadotropin hormones. There was no significant difference in the progression-free survival between the two groups (P=0.648) by Kaplan-Meier analysis. Conclusions: Plurihormonal PIT1-lineage tumor belongs to a rare type of PIT1-lineage pituitary neuroendocrine tumors, most of which are of immature lineage. Clinically increased symptoms owing to pituitary hormone secretion, histopathologically increased number of eosinophilic tumor cells with high proportion of growth hormone expression, diffusely cytoplasmic keratin staining and low proliferative activity can help differentiate the mature plurihormonal PIT1-lineage tumors from the immature PIT1-lineage tumors. The immature PIT1-lineage tumors have more complicated clinicopathological characteristics.

PMID:37805393 | DOI:10.3760/cma.j.cn112151-20230216-00137

Symptomatic intraventricular choroid plexus cysts. Illustrative case and systematic review

Fetched: November 2nd, 2023, 5:01am GMT by Artem Stanishevskiy

Neurosurg Rev. 2023 Oct 6;46(1):264. doi: 10.1007/s10143-023-02176-0.

ABSTRACT

Although choroid plexus cysts are a frequent incidental neuroimaging finding, symptomatic ones are rare-a series of more than five cases are hard to find. In the absence of high-volume studies, there are no generally accepted algorithms for diagnosis and treatment for this pathology. Proposed surgical techniques include microsurgical excision or fenestration and endoscopic excision or fenestration with or without additional shunting. No definitive conclusions exist about the superiority of a certain technique. Here, we introduce an illustrative case of a patient with a symptomatic choroid plexus cyst in the trigone of the lateral ventricle and a systematic review of 65 additional published cases with the aim of identifying epidemiological features, variants of localization of the cysts, their symptoms, persistence of concomitant obstructive hydrocephalus, and treatment modalities. A PRISMA-based literature search was performed on the PubMed, MEDLINE, Scopus, and Web of Knowledge databases. We include in the review case reports and case series of symptomatic choroid plexus cysts with full texts or valuable abstracts available online in English and published by April 2023. All abstracts of retrieved studies were assessed by two independent researchers to avoid bias. Only descriptive statistics were used for the presentation of the results. A total of 48 studies (39 case reports and 9 case series) with 65 depicted cases met the eligibility criteria. The review showed a slight predominance of choroid plexus cysts in men. The most common localizations of cysts were the trigone and the body of the lateral ventricle. Obstructive hydrocephalus is often present in patients with choroid plexus cysts. The most common symptoms of cysts were signs of increased ICP: headaches and vomiting. The main treatment approaches for symptomatic choroid plexus cysts were microsurgical excision, microsurgical fenestration, endoscopic fenestration, and total endoscopic excision. The tendency has been noted to shift from microsurgical to endoscopic procedures over the past two decades. Some data on the classification of cysts of the central nervous system and the underlying mechanisms of the pathogenesis of choroid plexus cysts are also presented.Although symptomatic cases of choroid plexus cysts are rare, by summarizing currently available data, one could clarify their common features and identify a preferable treatment modality.

PMID:37801091 | DOI:10.1007/s10143-023-02176-0

Increasing C-reactive protein levels in a patient with glioblastoma with lymph node metastasis: a case report

Fetched: November 2nd, 2023, 5:01am GMT by Takuya Kanemitsu

BMC Neurol. 2023 Oct 4;23(1):354. doi: 10.1186/s12883-023-03402-4.

ABSTRACT

BACKGROUND: Glioblastoma usually recurs locally and extracranial metastases are rare. Most patients with extracranial metastases experience recurrence of the primary intracranial tumor. Lymph node metastases are often detected based on lymphadenopathy or symptoms caused by other metastatic sites.

CASE PRESENTATION: Herein, we report a case of glioblastoma with lymph node metastasis in which the patient was asymptomatic but exhibited gradually increasing C-reactive protein levels prior to becoming febrile 9 months after the initial C-reactive protein increase. Diagnosis of lymph node metastasis that was delayed because the patient had a fever of unknown origin, no signs of infection, and the primary intracranial tumor did not recur. Chest computed tomography indicated supraclavicular, mediastinal, and hilar lymphadenopathy, and biopsy identified lymph node metastasis of glioblastoma. This is the fifth reported case of lymph node metastasis without intracranial recurrence.

CONCLUSIONS: C-reactive protein levels may be a diagnostic marker for lymph node metastasis in patients with glioblastoma. Further evaluation is needed to elucidate the role of CRP in glioblastoma with lymph node metastasis.

PMID:37794336 | PMC:PMC10548662 | DOI:10.1186/s12883-023-03402-4

Permalink for 'Intraventricular papillary glioneuronal tumor with high proliferation index and CD117 positivity: Report of an atypical case and review of literature'

Intraventricular papillary glioneuronal tumor with high proliferation index and CD117 positivity: Report of an atypical case and review of literature

Fetched: November 2nd, 2023, 5:01am GMT by Varnika Rai

J Cancer Res Ther. 2023 Jul-Sep;19(5):1426-1429. doi: 10.4103/jcrt.jcrt_434_21.

ABSTRACT

Papillary glioneuronal tumors are rare neoplasm, accounting only <0.02% of all intracranial tumors. They are generally low grade usually occur in the temporal lobe near the third ventricle. We report an extremely rare case of intraventricular tumor with a high proliferation index. CD 117 expression found in our case is the first study to the best of our knowledge to be described in these tumors. The clinical and diagnostic significance of this finding is subject to further studies.

PMID:37787321 | DOI:10.4103/jcrt.jcrt_434_21

Permalink for 'A Rare Case of BRAF-mutated Metastatic Pleomorphic Xanthoastrocytoma Patient who Developed Radiodermatitis After Receiving Anti-BRAF Treatment'

A Rare Case of BRAF-mutated Metastatic Pleomorphic Xanthoastrocytoma Patient who Developed Radiodermatitis After Receiving Anti-BRAF Treatment

Fetched: October 31st, 2023, 5:01am GMT by Ceren Atahan

J Pediatr Hematol Oncol. 2023 Nov 1;45(8):e1005-e1009. doi: 10.1097/MPH.0000000000002754. Epub 2023 Sep 13.

ABSTRACT

Pleomorphic xanthoastrocytoma (PXA) is a rare type of grade 2 or 3 brain tumor that usually occurs in children and young adults. The standard treatment for PXA is maximally safe resection, usually with adjuvant radiation therapy, for high-grade tumors. BRAF V600E mutation is one of the most common molecular alterations in these tumors, with nearly 70% of cases carrying this mutation. Although BRAF inhibitors have shown promise in treating progressive or refractory disease, their use has been associated with various adverse effects, including radiodermatitis, which is a relatively common complication. This paper presents a case of a 16-year-old male patient with BRAF-mutated metastatic PXA, who developed mild radiodermatitis after receiving BRAF inhibitors with concurrent radiation therapy.

PMID:37700448 | DOI:10.1097/MPH.0000000000002754

Permalink for 'Successful Endoscopic Transsphenoidal Approach Treatment of Sphenoid Sinus Organized Hematoma Causing Visual Deficit: A Case Report'

Successful Endoscopic Transsphenoidal Approach Treatment of Sphenoid Sinus Organized Hematoma Causing Visual Deficit: A Case Report

Fetched: October 31st, 2023, 5:01am GMT by Kyu Young Choi

Medicina (Kaunas). 2023 Oct 10;59(10):1802. doi: 10.3390/medicina59101802.

ABSTRACT

Background: Organized hematoma in the sphenoid sinus is rare, but serious complications, such as visual deficits, can occur. Three such case reports have been published previously in the literature; however, none have achieved complete recovery of the vision. Case presentation: A 69-year-old male patient was referred to the ear, nose, and throat department with an expansile soft tissue mass filling the right sphenoid sinus and blurry vision in his right eye. Complete mass removal was achieved by a wide opening of the sphenoid sinus via an endoscopic transsphenoidal approach, followed by cauterization of the feeding artery and coverage by a nasoseptal flap. The patient's vision was restored after the operation, and he declared no visual symptoms until the latest follow-up (one year after the surgery). Conclusions: Complete excision with an endoscopic endonasal transsphenoidal approach can restore visual deterioration caused by a sphenoid sinus organized hematoma.

PMID:37893520 | PMC:PMC10608076 | DOI:10.3390/medicina59101802

Neurological Outcome and Respiratory Insufficiency in Intramedullary Tumors of the Upper Cervical Spine

Fetched: October 31st, 2023, 5:01am GMT by Kateryna Goloshchapova

Medicina (Kaunas). 2023 Sep 30;59(10):1754. doi: 10.3390/medicina59101754.

ABSTRACT

Background and Objectives: Intramedullary spinal cord tumors (IMSCT) are rare entities. A location in the upper cervical spine as a highly eloquent region carries the risk of postoperative neurological deficits, such as tetraparesis or respiratory dysfunction. Evidence for respiratory dysfunction is scarce. This study aimed to describe these highly eloquent tumors' early and late postoperative clinical course. Materials and Methods: This is a single-center retrospective cohort study. We included 35 patients with IMSCT at levels of the craniocervical junction to C4 who underwent surgical treatment between 2008 and 2022. The authors analyzed the patients' preoperative status, tumor- and surgery-specific characteristics, and follow-up functional status. Results: The study cohort included twenty-two patients with grade II ependymoma (62.9%), two low-grade astrocytomas (5.7%), two glioblastomas (5.7%), six hemangioblastomas (17.1%), two metastases (5.7%), and one patient with partially intramedullary schwannoma (2.9%). Gross total resection was achieved in 76% of patients. Early dorsal column-related symptoms (gait ataxia and sensory loss) and motor deterioration occurred in 64% and 44% of patients. At a follow-up of 3.27 ± 3.83 years, 43% and 33% of patients still exhibited postoperative sensory and motor deterioration, respectively. The median McCormick Scale grade was 2 in the preoperative and late postoperative periods, respectively. Only three patients (8.6%) developed respiratory dysfunction, of whom, two patients, both with malignant IMSCT, required prolonged invasive ventilation. Conclusions: More than 60% of the patients with IMSCT in the upper cervical cord developed new neurological deficits in the immediate postoperative period, and more than 40% are permanent. However, these deficits are not disabling in most cases since most patients maintain functional independence as observed by unchanged low McCormick scores. The rate of respiratory insufficiency is relatively low and seems to be influenced by the rapid neurological deterioration in high-grade tumors.

PMID:37893472 | PMC:PMC10608265 | DOI:10.3390/medicina59101754

Permalink for 'Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas'

Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas

Fetched: October 31st, 2023, 5:01am GMT by Gábor Bedics

Sci Rep. 2023 Oct 27;13(1):18436. doi: 10.1038/s41598-023-45786-w.

ABSTRACT

Glioblastomas are the most common IDH-wildtype adult high-grade gliomas, frequently harboring mutations in the TERT gene promoter (pTERT) and utilizing the subsequent telomerase overexpression for telomere length maintenance. However, some rare cases show loss of ATRX and use alternative mechanisms of telomere lengthening. In this study, we performed the first complex genomic analysis specifically concentrating on the latter subgroup. Comprehensive genomic profiling of 12 ATRX-deficient and 13 ATRX-intact IDH-wildtype adult high-grade gliomas revealed that ATRX and pTERT mutations are mutually exclusive. DNMT3A alterations were confined to ATRX-deficient, while PTEN mutations to ATRX-intact cases. RAS-MAPK pathway alterations, including NF1 mutations, were more characteristic in the ATRX-deficient group. Variants of genes related to homologous recombination repair showed different patterns of affected genes. Two ATRX-deficient tumors with high tumor mutational burden and mismatch repair deficiency were found. One of these contained a novel fusion involving the NTRK2 and LRRFIP2 genes, while the other showed loss of MSH2 and MSH6 without genetic alterations in the encoding genes suggesting an epigenetic background. Genetic characteristics of ATRX-deficient IDH-wildtype adult high-grade gliomas suggest that these tumors are particularly intriguing targets of potential future therapeutic interventions including immunotherapies combined with MAPK pathway inhibition and DNA repair inhibitors.

PMID:37891325 | PMC:PMC10611758 | DOI:10.1038/s41598-023-45786-w

Permalink for 'A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case'

A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case

Fetched: October 28th, 2023, 5:01am GMT by Valérie Larouche

Curr Oncol. 2023 Oct 3;30(10):8992-9003. doi: 10.3390/curroncol30100649.

ABSTRACT

Mastocytosis is a heterogeneous group of rare hematological disorders that can occur in infancy. We report a 16-year-old girl who presented with an aggressive form of systemic congenital mastocytosis, associated with a significant global developmental delay, deafness, and multiple anomalies. At 4 years of age, she developed a germinoma presenting as an invasive spinal mass. Extensive cytogenetic, metabolic, and molecular genetic studies that included whole-exome sequencing studies revealed a KIT alteration (NM_000222.3(KIT):c2447A > 7 pAsp816Val) and likely pathogenic variant in the DNA from peripheral blood and skin lesions. C-kit was also found to be overexpressed in the spinal tumor cells. We compared the features of this child to those of six previously reported pediatric patients with cutaneous mastocytosis, microcephaly, microtia, and/or hearing loss reported in OMIM as mastocytosis, conductive hearing loss, and microtia (MIM 248910), for which the etiology has not yet been determined. This report extends the currently recognized spectrum of KIT-related disorders and provides clues as to the potential etiology of a syndromic form of congenital mastocytosis. International efforts to understand the benefits of long-term targeted therapy with tyrosine kinase inhibitors for this KIT-altered rare disease should continue to be evaluated in clinical trials.

PMID:37887549 | PMC:PMC10605361 | DOI:10.3390/curroncol30100649

Permalink for 'Clinicopathological features, current status, and progress of primary central nervous system melanoma diagnosis and treatment'

Clinicopathological features, current status, and progress of primary central nervous system melanoma diagnosis and treatment

Fetched: October 28th, 2023, 5:01am GMT by Pengna Guo

Pigment Cell Melanoma Res. 2023 Oct 27. doi: 10.1111/pcmr.13140. Online ahead of print.

ABSTRACT

Primary central nervous system (CNS) melanoma is an extremely rare condition, with an incidence rate of 0.01 per 100,000 individuals per year. Despite its rarity, the etiology and pathogenesis of this disease are not yet fully understood. Primary CNS melanoma exhibits highly aggressive biological behavior and presents clinically in a distinct manner from other types of melanomas. It can develop at any age, predominantly affecting the meninges as the primary site, with clinical symptoms varying depending on the neoplasm's location. Due to the lack of specificity in its presentation and the challenging nature of imaging diagnosis, distinguishing primary CNS melanoma from other CNS diseases. The combination of challenges in early detection, heightened tumor aggressiveness, and the obscured location of its origin contribute to an unfavorable prognostic outcome. Furthermore, there has been currently no consensus on a standardized treatment approach for primary CNS melanoma. Despite recent advancements in targeted therapy and immunotherapy for CNS melanoma, patients with primary CNS melanoma have limited treatment options due to their inadequate response to these therapies. Here, we provided a comprehensive summary of the epidemiology, clinical features, molecular pathological manifestations, and available diagnostic and therapeutic approaches of primary CNS melanoma. Additionally, we proposed potential therapeutic strategies for it.

PMID:37886794 | DOI:10.1111/pcmr.13140

A - 119 A Case Study: the Cognitive Functioning of an Adult Patient with Recurrent Craniopharyngiomas

Fetched: October 28th, 2023, 5:01am GMT by Phoebe Ka Yin Tse

Arch Clin Neuropsychol. 2023 Oct 20;38(7):1291. doi: 10.1093/arclin/acad067.136.

ABSTRACT

OBJECTIVE: Craniopharyngiomas are extremely rare (incidence rate of 1.34 per million). Due to its proximity to the sellar/suprasellar prefrontal regions region, cognitive impairment, behavioral changes, and adverse endocrinological outcomes are common. Further, surgery and radiotherapy can further impact functioning. Currently, there is no parsimonious cognitive profile of adult patients following interventions. This case highlights the role of neuropsychological evaluations in monitoring global psychological functioning and frontal behavioral syndrome in an adult with recurrent craniopharyngioma.

METHOD: The patient is a 39-year-old Black female first evaluated as an inpatient prior to resection surgery. She was evaluated on four additional times post-surgically. At the most recent evaluation, she and her family reported memory problems, apathy, and gait instability. Complicating factors included hypothyroidism, chronic kidney disease, diabetes, obstructive sleep apnea, pulmonary embolism, hypotension, COVID-19, and recurrent tachycardia, with inconsistent adherence to treatment recommendations.

RESULTS: She displayed global cognitive deficits two years post-surgery, particularly in language and memory. Neurobehaviorally, she exhibited pervasive signs of severe frontal lobe syndrome, including, abulia, hypophonic and dysarthric speech, psychomotor retardation, bradyphrenia, and anosognosia.

CONCLUSION: Neuropsychological evaluations remain critical in monitoring the patient's neurocognitive status and provide valuable insights into treatment planning and need for additional support and care to optimize patients' quality of life in the context of significant cognitive disability.

PMID:37807245 | DOI:10.1093/arclin/acad067.136

Self-Functionalized Superlattice Nanosensor Enables Glioblastoma Diagnosis Using Liquid Biopsy

Fetched: October 27th, 2023, 5:01am GMT by Srilakshmi Premachandran

ACS Nano. 2023 Oct 24;17(20):19832-19852. doi: 10.1021/acsnano.3c04118. Epub 2023 Oct 12.

ABSTRACT

Glioblastoma (GBM), the most aggressive and lethal brain cancer, is detected only in the advanced stage, resulting in a median survival rate of 15 months. Therefore, there is an urgent need to establish GBM diagnosis tools to identify the tumor accurately. The clinical relevance of the current liquid biopsy techniques for GBM diagnosis remains mostly undetermined, owing to the challenges posed by the blood-brain barrier (BBB) that restricts biomarkers entering the circulation, resulting in the unavailability of clinically validated circulating GBM markers. GBM-specific liquid biopsy for diagnosis and prognosis of GBM has not yet been developed. Here, we introduce extracellular vesicles of GBM cancer stem cells (GBM CSC-EVs) as a previously unattempted, stand-alone GBM diagnosis modality. As GBM CSCs are fundamental building blocks of tumor initiation and recurrence, it is desirable to investigate these reliable signals of malignancy in circulation for accurate GBM diagnosis. So far, there are no clinically validated circulating biomarkers available for GBM. Therefore, a marker-free approach was essential since conventional liquid biopsy relying on isolation methodology was not viable. Additionally, a mechanism capable of trace-level detection was crucial to detecting the rare GBM CSC-EVs from the complex environment in circulation. To break these barriers, we applied an ultrasensitive superlattice sensor, self-functionalized for surface-enhanced Raman scattering (SERS), to obtain holistic molecular profiling of GBM CSC-EVs with a marker-free approach. The superlattice sensor exhibited substantial SERS enhancement and ultralow limit of detection (LOD of attomolar 10^-18 M concentration) essential for trace-level detection of invisible GBM CSC-EVs directly from patient serum (without isolation). We detected as low as 5 EVs in 5 μL of solution, achieving the lowest LOD compared to existing SERS-based studies. We have experimentally demonstrated the crucial role of the signals of GBM CSC-EVs in the precise detection of glioblastoma. This was evident from the unique molecular profiles of GBM CSC-EVs demonstrating significant variation compared to noncancer EVs and EVs of GBM cancer cells, thus adding more clarity to the current understanding of GBM CSC-EVs. Preliminary validation of our approach was undertaken with a small amount of peripheral blood (5 μL) derived from GBM patients with 100% sensitivity and 97% specificity. Identification of the signals of GBM CSC-EV in clinical sera specimens demonstrated that our technology could be used for accurate GBM detection. Our technology has the potential to improve GBM liquid biopsy, including real-time surveillance of GBM evolution in patients upon clinical validation. This demonstration of liquid biopsy with GBM CSC-EV provides an opportunity to introduce a paradigm potentially impacting the current landscape of GBM diagnosis.

PMID:37824714 | DOI:10.1021/acsnano.3c04118

How I do it: micro-neurosurgical resection of spheno-orbital meningioma with customized orbit reconstruction technique

Fetched: October 27th, 2023, 5:01am GMT by Long Wang

Acta Neurochir (Wien). 2023 Oct;165(10):2943-2949. doi: 10.1007/s00701-023-05786-1. Epub 2023 Sep 6.

ABSTRACT

BACKGROUND: Spheno-orbital meningioma (SOM) is a rare intracranial pathology with intraosseous hypertrophy and intraorbital extension.

METHOD: We described a middle-aged female with SOM who was managed in a micro-neurosurgical manner. The titanium implant was customized and applied to rebuild the orbital wall to prevent postoperative enophthalmus.

CONCLUSION: Despite technical demands, favorable cosmetic, and clinical outcomes without complications can be achieved by meticulous surgical technique following radical resection.

CLINICAL TRIAL REGISTRATION: NA.

PMID:37672095 | DOI:10.1007/s00701-023-05786-1

Permalink for 'Clinical diagnostic and radiographic features of primary spinal atypical teratoid rhabdoid tumors tumor in a pediatric patient: A case report and review of the literature'

Clinical diagnostic and radiographic features of primary spinal atypical teratoid rhabdoid tumors tumor in a pediatric patient: A case report and review of the literature

Fetched: October 26th, 2023, 5:01am GMT by Hashim Syed

J Cent Nerv Syst Dis. 2023 Oct 21;15:11795735231209199. doi: 10.1177/11795735231209199. eCollection 2023.

ABSTRACT

Atypical teratoid rhabdoid tumors (ATRTs) are rare embryonal tumors comprising 1-2% of all pediatric CNS neoplasms. Spinal ATRTs are even more uncommon, accounting for 2% of all reported ATRT cases. Despite their rarity, ATRTs affect young children disproportionately and are characterized by a high malignant potential due to a heterogeneous cellular composition and inactivating mutations in the SMARCB1 (90%) and SMARCA4 (10%) genes. A 15-month-old female presented with a 2-week history of decreased lower extremity movement and new-onset need for assistance with ambulation. MRI lumbar spine revealed a contrast-enhancing intradural mass at the L3-L4 level with iso-intensity on T1 and T2 sequences. The patient subsequently underwent subtotal tumor resection (∼80%) given concerns for maintaining neurological function. Final pathology was consistent with spinal ATRT, and she later underwent adjuvant chemoradiation therapy per ACNS0333 protocol. She has since remained in remission with age-appropriate developmental milestones over the past 2 years. ATRTs should be considered in the differential diagnosis of intradural spinal lesions, especially in the pediatric patient population. Clinical course, presentation, and diagnosis is often delayed due to the rarity of these tumors, but contrasted craniospinal MRI is key for diagnosis and histopathology with IHC staining showing loss of INI is confirmatory. While gross total resection is the goal, maximal safe tumor resection should be prioritized in order to preserve neurological function. Adjuvant chemoradiation following gross total/subtotal resection has been shown to significantly improve overall survival.

PMID:37876767 | PMC:PMC10591496 | DOI:10.1177/11795735231209199

Impact of rare and multiple concurrent gene fusions on diagnostic DNA methylation classifier in brain tumors

Fetched: October 24th, 2023, 5:01am GMT by Kristyn Galbraith

Mol Cancer Res. 2023 Oct 23. doi: 10.1158/1541-7786.MCR-23-0627. Online ahead of print.

ABSTRACT

DNA methylation is an essential molecular assay for central nervous system tumor diagnostics. While some fusions define specific brain tumors, others occur across many different diagnoses. We performed a retrospective analysis of 219 primary CNS tumors with whole genome DNA methylation and RNA NGS. DNA methylation profiling results were compared with RNAseq detected gene fusions. We detected 105 rare fusions involving 31 driver genes, including 23 fusions previously not implicated in brain tumors. In addition, we identified 6 multi-fusion tumors. Rare fusions and multi-fusion events can impact the diagnostic accuracy of DNA methylation by decreasing confidence in the result, such as BRAF, RAF or FGFR1 fusions, or result in a complete mismatch, such as NTRK, EWSR1, FGFR, and ALK fusions. Implications: DNA methylation signatures need to be interpreted in the context of pathology and discordant results warrant testing for novel and rare gene fusions.

PMID:37870438 | DOI:10.1158/1541-7786.MCR-23-0627

Non-functional Pituitary Adenomas: Analysis of Delayed Diagnosis in Mexico

Fetched: October 24th, 2023, 5:01am GMT by Sergio Moreno Jiménez

Cureus. 2023 Sep 20;15(9):e45645. doi: 10.7759/cureus.45645. eCollection 2023 Sep.

ABSTRACT

BACKGROUND: Although tumors of the central nervous system (CNS) are rare, they can cause significant morbidity and mortality. The clinical presentation of patients with non-functional pituitary adenomas (NFPA) ranges from being completely asymptomatic to causing pituitary, hypothalamic, or visual dysfunction due to their large size. Patients usually arrive with large tumors at the time of diagnosis. Objectives: Try to describe the characteristics of NFPA and explain the causes of delayed diagnosis. Methods: We carried out a retrospective study including 58 patients with NFPA and analyzed the tumor volume at the time of diagnosis and its relationship with sociodemographic and health sector variables. Results: Low socioeconomic status (SES) was associated with high tumor volume (SES 1-2 of 17.4 cm³ vs 3-6 of 11.7 cm³, p=0.018), and the time between first consultation and diagnosis was longer in the public sector than in the private sector (13.5 months vs 5.1 months). The time between the first symptom and the first consultation was shorter when they had visual impairment than when they did not (4.1 vs 18.4 months, p=0.006).

CONCLUSIONS: On the one hand, citizens should be made aware that a visual deficit should make them go to a medical check-up, and on the other hand, strengthen the health system so that they have the NFPA as a differential diagnosis in patients with some visual alteration. Socioeconomic inequality in our country undoubtedly puts the underprivileged at greater risk.

PMID:37868458 | PMC:PMC10589391 | DOI:10.7759/cureus.45645

From signalling pathways to targeted therapies: unravelling glioblastoma's secrets and harnessing two decades of progress

Fetched: October 23rd, 2023, 5:01am GMT by Brittany Dewdney

Signal Transduct Target Ther. 2023 Oct 20;8(1):400. doi: 10.1038/s41392-023-01637-8.

ABSTRACT

Glioblastoma, a rare, and highly lethal form of brain cancer, poses significant challenges in terms of therapeutic resistance, and poor survival rates for both adult and paediatric patients alike. Despite advancements in brain cancer research driven by a technological revolution, translating our understanding of glioblastoma pathogenesis into improved clinical outcomes remains a critical unmet need. This review emphasises the intricate role of receptor tyrosine kinase signalling pathways, epigenetic mechanisms, and metabolic functions in glioblastoma tumourigenesis and therapeutic resistance. We also discuss the extensive efforts over the past two decades that have explored targeted therapies against these pathways. Emerging therapeutic approaches, such as antibody-toxin conjugates or CAR T cell therapies, offer potential by specifically targeting proteins on the glioblastoma cell surface. Combination strategies incorporating protein-targeted therapy and immune-based therapies demonstrate great promise for future clinical research. Moreover, gaining insights into the role of cell-of-origin in glioblastoma treatment response holds the potential to advance precision medicine approaches. Addressing these challenges is crucial to improving outcomes for glioblastoma patients and moving towards more effective precision therapies.

PMID:37857607 | PMC:PMC10587102 | DOI:10.1038/s41392-023-01637-8

Sacral ependymoma presents 20 years after initial posterior fossa lesion

Fetched: October 23rd, 2023, 5:01am GMT by Lynden Guy Nicely

BMJ Case Rep. 2023 Oct 19;16(10):e256611. doi: 10.1136/bcr-2023-256611.

ABSTRACT

Posterior fossa ependymomas (PFEs) are designated histologically as low-grade neoplasms. Despite being characterised as benign, cases of metastasis have been reported only a few times with the patients concurrently diagnosed with the primary tumour. Interval drop metastasis or spontaneous second distal tumours are extremely rare and, in most cases, are diagnosed within a few months of primary tumour resection. Here, we report a patient with a grade 2 paediatric PFE exhibiting a 20-year interval to a second sacral ependymoma. The patient was initially diagnosed with a PFE at the age of 10 years and underwent tumour resection and postoperative radiotherapy. In their late 20s, the patient presented with basilar artery occlusion complicated by life-threatening epistaxis. Post-thrombolysis, the patient presented with a large sacral grade 1 myxopapillary ependymoma with cauda equina syndrome-like symptoms. Here, we present a rare case of two ependymomas with a 20-year interval in the same patient with compounding comorbidities.

PMID:37857539 | PMC:PMC10603451 | DOI:10.1136/bcr-2023-256611

Permalink for 'Thyroglobulin as a Rapid and Cost-Effective Biomarker for Diagnosis of Thyroid Carcinoma Brain Metastasis: A Case Report of a Patient with Metastatic Hurthle Cell Thyroid Carcinoma'

Thyroglobulin as a Rapid and Cost-Effective Biomarker for Diagnosis of Thyroid Carcinoma Brain Metastasis: A Case Report of a Patient with Metastatic Hurthle Cell Thyroid Carcinoma

Fetched: October 23rd, 2023, 5:01am GMT by Konstantinos Ntotsikas

Am J Case Rep. 2023 Oct 19;24:e939025. doi: 10.12659/AJCR.939025.

ABSTRACT

BACKGROUND Brain metastasis of papillary thyroid cancer (PTC) is rare. Treatment of these patients is challenging due to the lack of specific guidelines. Early diagnosis is accompanied by immediate treatment and less morbidity. Total resection of brain lesions may be unattainable when they include infiltration of eloquent areas. This report is of an 81-year-old man who had undergone total thyroidectomy for goiter in the past and presented with metastatic papillary thyroid carcinoma (PTC) to the neck after a gap of 16 years. After two years, the patient developed a solitary cystic brain PTC metastasis associated with raised thyroglobulin (Tg) inside the cystic lesion aspirated during brain surgery. CASE REPORT An 81-year-old male patient was admitted for a space-occupying brain lesion in the right frontal lobe. The patient's history included metastatic disease of PTC to the neck with cervical lymph node metastasis and local recurrence after surgery and radioactive iodine-131 treatment. The patient underwent craniotomy and removal of the lesion. The aspirated fluid was sent for cytological examination and measurement of Tg levels, which were interestingly high. Pathology of the brain lesion revealed infiltration of brain parenchyma from a metastatic lesion characterized by eosinophilic cells with irregular contours forming grooves, resulting in cytoplasmic pseudo-inclusions, an oncotic variant of PTC. CONCLUSIONS This report has shown that residual tissue may be present following total thyroidectomy and may be the origin of PTC with metastasis to the brain. The patient in this study suffered from a brain lesion that could be excised. However, aspiration of cystic compartments could provide a rapid diagnosis in patients with non-removable brain lesions.

PMID:37853680 | PMC:PMC10598507 | DOI:10.12659/AJCR.939025

Neuroepithelial tumor with EWSR1::PATZ1 fusion: A literature review

Fetched: October 23rd, 2023, 5:01am GMT by Hyunhee Kim

J Neuropathol Exp Neurol. 2023 Oct 20;82(11):934-947. doi: 10.1093/jnen/nlad076.

ABSTRACT

We present the clinicopathological and molecular genetic characteristics of a neuroepithelial tumor (NET), EWSR1::PATZ1 fusion-positive with a literature review. This fusion has recently been discovered in rare central nervous system tumors and soft tissue sarcomas and was not included in the fifth edition of the WHO classifications. We identified this fusion in 2 NETs. The first case involved a 7-year-old girl and the second case occurred in a 53-year-old man; both presented with headaches and vomiting. The pediatric case initially showed an intermediate grade of the tumor, but upon recurrences, it transformed into a high-grade tumor with 2 relapses in 8.3 years. This case exhibited high mitotic activity (20/10 high-power fields), and a high Ki-67 index (21%). The TERT promoter (TERTp) mutation was present in both initial and recurrent tumors. In contrast, the adult case was a low-grade tumor with no mitotic activity or recurrence over 13.5 months after subtotal resection and gamma knife surgery. Interestingly, the pediatric case demonstrated a longer survival time compared to conventional glioblastoma. The TERTp mutation, similar to being a molecular signature in adult-type glioblastoma, could also be an indicator of high-grade behavior in PATZ1 fusion NET.

PMID:37804108 | DOI:10.1093/jnen/nlad076

Permalink for 'A rapid clinical deterioration of a cervical exophytic intradural intramedullary sporadic hemangioblastoma diagnosed during pregnancy'

A rapid clinical deterioration of a cervical exophytic intradural intramedullary sporadic hemangioblastoma diagnosed during pregnancy

Fetched: October 20th, 2023, 5:01am GMT by Ufuk Erginoglu

Neurosurg Focus Video. 2023 Oct 1;9(2):V11. doi: 10.3171/2023.7.FOCVID2354. eCollection 2023 Oct.

ABSTRACT

Hemangioblastomas are benign CNS tumors that can occur sporadically or in conjunction with von Hippel-Lindau disease. While 2% of spinal cord tumors are hemangioblastomas, combined cervical hemangioblastomas and pregnancy is rare. Some reports suggest that hemodynamic and hormonal changes in pregnancy might increase hemangioblastoma growth and aggravate symptoms. Urgent tumor removal is required when neurological problems deteriorate after failed symptomatic treatment. Neurosurgeons should collaborate with anesthesiologists and obstetricians in such cases. Herein, the authors present the first known video case of a sporadic cervical hemangioblastoma diagnosed during pregnancy that required urgent surgery due to failed symptomatic treatment and progressive clinical deterioration.

PMID:37854654 | PMC:PMC10580740 | DOI:10.3171/2023.7.FOCVID2354

Pineal/germ cell tumors and pineal parenchymal tumors

Fetched: October 14th, 2023, 5:01am GMT by Hideki Ogiwara

Childs Nerv Syst. 2023 Oct;39(10):2649-2665. doi: 10.1007/s00381-023-06081-1. Epub 2023 Oct 13.

ABSTRACT

INTRODUCTION: Pineal region tumors (PRTs) are tumors arising from the pineal gland and the paraspinal structures. These tumors are rare and heterogeneous that account for 2.8-10.1% and 0.6-3.2% of tumors in children and in all ages, respectively. Almost all types and subtypes of CNS tumors may be diagnosed in this region. These tumors come from cells of the pineal gland (pinealocytes and neuroglial cells), ectopic primordial germ cells (PGC), and cells from adjacent structures. Hence, PRTs are consisted of pineal parenchyma tumors (PPTs), germ cell tumors (GCTs), neuroepithelial tumors (NETs), other miscellaneous types of tumors, cystic tumors (epidermoid, dermoid), and pineal cyst in addition. The symptoms of PRTs correlate to the increased intracranial cranial pressure due to obstructive hydrocephalus and dorsal midbrain compression. The diagnostic imaging studies are mainly MRI of brain (with and without gadolinium) along with a sagittal view of whole spine. Serum and/or CSF AFP/β-HCG helps to identify GCTs. The treatment of PRTs is consisted of the selection of surgical biopsy/resection, handling of hydrocephalus, neoadjuvant and/or adjuvant therapy according to age, tumor location, histopathological/molecular classification, grading of tumors, staging, and threshold value of markers (for GCTs) in addition.

METHODS: In this article, we review the following focus points: 1. Background of pineal region tumors. 2. Pineal GCTs and evolution of management. 3. Molecular study for GCTs and pineal parenchymal tumors. 4. Review of surgical approaches to the pineal region. 5. Contribution of endoscopy. 6. Adjuvant therapy (chemotherapy, radiotherapy, and combination). 7.

RESULTS: In all ages, the leading three types of PRTs in western countries were PPTs (22.7-34.8%), GCTs (27.3-34.4%), and NETs (17.2-28%). In children and young adults, the leading PRTs were invariably in the order of GCTs (40-80.5%), PPTs (7.6-21.6%), NETs (2.4-37.5%). Surgical biopsy/resection of PRTs is important for precision diagnosis and therapy. Safe resection with acceptable low mortality and morbidity was achieved after 1970s because of the advancement of surgical approaches, CSF shunt and valve system, microscopic and endoscopic surgery. Following histopathological diagnosis and classification of types and subtypes of PRTs, in PPTs, through molecular profiling, four molecular groups of pineoblastoma (PB) and their oncogenic driver were identified. Hence, molecular stratified precision therapy can be achieved.

CONCLUSION: Modern endoscopic and microsurgical approaches help to achieve precise histopathological diagnosis and molecular classification of different types and subtypes of pineal region tumors for risk-stratified optimal, effective, and protective therapy. In the future, molecular analysis of biospecimen (CSF and blood) along with AI radiomics on tumor imaging integrating clinical and bioinformation may help for personalized and risk-stratified management of patients with pineal region tumors.

PMID:37831207 | DOI:10.1007/s00381-023-06081-1

Intramedullary Subependymoma Of Lower Thoracic Cord

Fetched: October 13th, 2023, 5:01am GMT by Hafiza Hifza Bashir

J Pak Med Assoc. 2023 Sep;73(9):1919-1920. doi: 10.47391/JPMA.23-66.

ABSTRACT

Spinal subependymoma (SSE) is a rare intramedullary, benign tumour. Surgical excision isthe preferred approach. However, the interwoven pattern of neural tissue within the tumour dictates the extent of resection. Where gross total resection is linked with possible neurological deficits, subtotal resection or close observation may support better functional outcomes. The evidence for the management of SSE is based mostly on case reports. Herein, we review the existing literature regarding treatment options and clinical outcomes of spinal subependymoma.

PMID:37817716 | DOI:10.47391/JPMA.23-66

Management of neurofibromatosis type 1 associated tumors of central and peripheral nervous system

Fetched: October 12th, 2023, 5:01am GMT by Marica Eoli

Curr Opin Oncol. 2023 Nov 1;35(6):558-563. doi: 10.1097/CCO.0000000000000998. Epub 2023 Sep 20.

ABSTRACT

PURPOSE OF REVIEW: In recent years emerging evidence suggests that some tumor types, extremely rare in general population and understudied, can be observed in NF1 and neoplasms related with this condition harbor peculiar genetic and epigenetic features. The aim of this review is to summarize recent advances that, delving into the tumor complexity, have identified new diagnostic tools and potential tumor subtype that may have been associated with clinical implications.

RECENT FINDINGS: The available data confirmed the presence of peculiar molecular signatures in those tumors, different from those observed in sporadic neoplasms and suggest that a specific reference to NF1 associated neoplasms would deserve to be mentioned in tumor WHO classification. Comprehensive multiomic analysis shows that the histologic assessment does not always match the methylation group assignment and facilitates tumor subclassification into categories predictive of clinical behavior. The non-invasive assessment of tumor genetic profiles by the analysis of plasma ctDNA is representative of tumor features, may help differential diagnosis and may identify malignant transformation, sparing the patient from repeated biopsies.

SUMMARY: A better knowledge of NF1 associated tumors at the molecular level may suggest changes in the clinical management of the disease and open new frontiers of personalized treatment.

PMID:37820091 | DOI:10.1097/CCO.0000000000000998

Permalink for 'Primary Gamma Knife Radiosurgery for pineal region tumors: A systematic review and pooled analysis of available literature with histological stratification'

Primary Gamma Knife Radiosurgery for pineal region tumors: A systematic review and pooled analysis of available literature with histological stratification

Fetched: October 11th, 2023, 5:02am GMT by Filippo Gagliardi

J Pineal Res. 2023 Dec;75(4):e12910. doi: 10.1111/jpi.12910. Epub 2023 Sep 13.

ABSTRACT

Pineal region tumors (PTs) represent extremely rare pathologies, characterized by highly heterogeneous histological patterns. Most of the available evidence for Gamma Knife radiosurgical (GKSR) treatment of PTs arises from multimodal regimens, including GKSR as an adjuvant modality or as a salvage treatment at recurrence. We aimed to gather existing evidence on the topic and analyze single-patient-level data to address the efficacy and safety of primary GKSR. This is a systematic review of the literature (PubMed, Embase, Cochrane, Science Direct) and pooled analysis of single-patient-level data. A total of 1054 original works were retrieved. After excluding duplicates and irrelevant works, we included 13 papers (n = 64 patients). An additional 12 patients were included from the authors' original series. A total of 76 patients reached the final analysis; 56.5% (n = 43) received a histological diagnosis. Confirmed lesions included pineocytoma WHO grade I (60.5%), pineocytoma WHO grade II (14%), pineoblastoma WHO IV (7%), pineal tumor with intermediate differentiation WHO II/III (4.7%), papillary tumor of pineal region WHO II/III (4.7%), germ cell tumor (2.3%), neurocytoma WHO I (2.3%), astrocytoma WHO II (2.3%) and WHO III (2.3%). Presumptive diagnoses were achieved in the remaining 43.5% (n = 33) of cases and comprised of pineocytoma (9%), germ cell tumor (6%), low-grade glioma (6%), high-grade glioma (3%), meningioma (3%) and undefined in 73%. The mean age at the time of GKSR was 38.7 years and the mean lesional volume was 4.2 ± 4 cc. All patients received GKSR with a mean marginal dose of 14.7 ± 2.1 Gy (50% isodose). At a median 36-month follow-up, local control was achieved in 80.3% of cases. Thirteen patients showed progression after a median time of 14 months. Overall mortality was 13.2%. The median OS was not reached for all included lesions, except high-grade gliomas (8mo). The 3-year OS was 100% for LGG and pineal tumors with intermediate differentiation, 91% for low-grade pineal lesions, 66% for high-grade pineal lesions, 60% for germ cell tumors (GCTs), 50% for HGG, and 82% for undetermined tumors. The 3-year progression-free survival (PFS) was 100% for LGG and pineal intermediate tumors, 86% for low-grade pineal, 66% for high-grade pineal, 33.3% for GCTs, and 0% for HGG. Median PFS was 5 months for HGG and 34 months for GCTs. The radionecrosis rate was 6%, and cystic degeneration was observed in 2%. Ataxia as a presenting symptom strongly predicted mortality (odds ratio [OR] 104, p = .02), while GCTs and HGG histology well predicted PD (OR: 13, p = .04). These results support the efficacy and safety of primary GKSR treatment of PTs. Further studies are needed to validate these results, which highlight the importance of the initial presumptive diagnosis for choosing the best therapeutic strategy.

PMID:37705383 | DOI:10.1111/jpi.12910

Extracranial metastasis of brain glioblastoma outside CNS: Pathogenesis revisited

Fetched: October 11th, 2023, 5:02am GMT by Maher Kurdi

Cancer Rep (Hoboken). 2023 Oct 9:e1905. doi: 10.1002/cnr2.1905. Online ahead of print.

ABSTRACT

BACKGROUND: The most prevalent malignant tumor of the CNS in adults is glioblastoma. Despite undergoing surgery and chemoradiotherapy, the prognosis remains unfavorable, with a median survival period ranging between 15 and 20 months. The incidence of glioblastoma metastasis outside CNS is uncommon with only 0.4%-2% reported rate, compared to other tumors that exhibit a 10% incidence rate of metastasis to the brain. On average, it takes about 11 months from the time of initial diagnosis for the tumor to spread beyond CNS. Consequently, the prognosis for metastatic glioblastoma is grim, with a 6-month survival rate following diagnosis.

FINDINGS: The rarity of extracranial metastasis is attributed to the blood-brain barrier and lack of a lymphatic drainage system, although rare cases of hematogenous spread and direct implantation have been reported. The possible mechanisms remain unclear and require further investigation. Risk factors have been widely described, including previous craniotomy or biopsies, ventricular shunting, young age, radiation therapy, prolonged survival time, and tumor recurrence. Due to the lack of understanding about extracranial metastasis of glioblastoma pathogenesis, no effective treatment exists to date. Aggressive chemotherapies are not recommended for metastatic glioblastoma as their side effects may worsen the patient prognosis.

CONCLUSION: The optimal treatment for extracranial metastasis of glioblastoma requires further investigation with a wide inclusion of patients. This review discusses the possible causes, factors, and underlying mechanisms of glioblastoma metastasis to different organs.

PMID:37814403 | DOI:10.1002/cnr2.1905

A cerebral lymphoma mimicking a meningioma: case report

Fetched: October 10th, 2023, 5:02am GMT by Imane Joudar

Ann Med Surg (Lond). 2023 Aug 4;85(10):5100-5104. doi: 10.1097/MS9.0000000000001126. eCollection 2023 Oct.

ABSTRACT

INTRODUCTION: Cerebral lymphoma is a rare and aggressive brain tumor. It accounts for 1% of all non-Hodgkin's lymphomas (NHL) and 2% of all brain tumors. Untreated brain lymphoma has a very poor prognosis, with an overall life expectancy of around 1.5 months.

CASE PRESENTATION: The authors report the case of a 35-year-old patient, with no previous pathological history, who presented for 3 weeks with deafness and recently aggravated otalgia. In MRI, brain imaging revealed a formation initially suggestive of an aggressive meningioma, and the histological study of the operative specimen was in favor of a diffuse large-cell non-germ-center B NHL.

CLINICAL DISCUSSION: Primary central nervous system lymphoma is an extra-nodal NHL localized to the brain, meninges, spinal cord, and eyes. In 90% of cases, these are diffuse large B-cell lymphomas, the other types being poorly characterized low-grade lymphomas, T-cell lymphomas, and Burkitt's lymphomas. MRI with gadolinium contrast is the gold standard for diagnosis which enhancement is homogeneous and well-limited, frequently associated with perilesional vascular edema. In T2-weighted sequences, there is a weak signal with restricted diffusion on diffusion-weighted imaging. The management of brain lymphoma is currently based on chemotherapy with high-dose methotrexate combined with the other agents, mainly rituximab.

CONCLUSION: Cerebral lymphoma remains a non-negligible entity of central nervous system tumors, which can be confused with several other tumors, mainly glial and meningioma.

PMID:37811052 | PMC:PMC10553179 | DOI:10.1097/MS9.0000000000001126

Permalink for 'Focal dystonia and ataxic hemiparesis as the initial presentation of a thalamic tuberculoma: A diagnostic challenge in an immunocompetent pediatric patient'

Focal dystonia and ataxic hemiparesis as the initial presentation of a thalamic tuberculoma: A diagnostic challenge in an immunocompetent pediatric patient

Fetched: October 10th, 2023, 5:02am GMT by Fauzia Sajjad

Surg Neurol Int. 2023 Sep 29;14:350. doi: 10.25259/SNI_581_2023. eCollection 2023.

ABSTRACT

BACKGROUND: Central nervous system (CNS) tuberculomas are rare and account for approximately 1% of all tuberculosis (TB) cases. These intracranial lesions are more commonly observed in immunocompromised individuals, often as part of disseminated miliary TB or after latent infection reactivation. This case report presents the occurrence of a thalamic tuberculoma in an immunocompetent girl.

CASE DESCRIPTION: An 11-year-old girl presented with a 3-month history of progressive right-sided ataxic hemiparesis, hand dystonia/thalamic hand, and headache. There was only a mildly elevated erythrocyte sedimentation rate (25 mm/h.), and her remaining biochemistry and vitals were unremarkable. Magnetic resonance imaging (MRI) brain revealed an ill-defined intra-axial heterogeneous lobulated lesion with crenated margins involving the thalamus and the posterior limb of the internal capsule with significant vasogenic edema. Given the clinical picture, the working diagnosis was a high-grade brain tumor. Due to the absence of a viable operative corridor for a meaningful resection and the diagnostic uncertainty, a stereotactic biopsy was performed, and histopathological analysis confirmed the presence of granulomas consistent with TB. A human immunodeficiency virus test (negative) and interferon-gamma release assay (positive) were then obtained. The patient was commenced on a regimen of anti-TB drugs with a tapering steroid dose. At 8 months, her most recent MRI showed a significant reduction in the size of her tuberculoma, and there is a complete resolution of her hand dystonia and hemiparesis to allow for independence in her activities of daily living.

CONCLUSION: This report emphasizes the importance of considering causes other than degenerative, vascular, or neoplasms in patients with hemiparesis with dystonia. CNS tuberculomas can present as such without prior history or specific clinical symptoms of TB, making them a diagnostic challenge. In cases with such uncertainty regarding the nature of an intracranial lesion and the role of resection, a stereotactic biopsy is invaluable.

PMID:37810325 | PMC:PMC10559370 | DOI:10.25259/SNI_581_2023

Bilateral Orbital Compartment Syndrome Following a Craniotomy With Coronal Incision

Fetched: October 10th, 2023, 5:02am GMT by Xingdong Wang

J Craniofac Surg. 2023 Oct 1;34(7):e690-e692. doi: 10.1097/SCS.0000000000009608. Epub 2023 Aug 17.

ABSTRACT

BACKGROUND: Orbital compartment syndrome is a rare ophthalmic emergency characterized by increased intraorbital pressure and hypoperfusion of critical neural structures, most of which were caused by trauma, and can also be caused by periorbital surgery, local injections, other preexisting medical conditions and so on. It requires rapid identification and immediate treatment for the preservation of vision.

CLINICAL PRESENTATION: A 61-year-old female with left frontal lobe-parafalcine meningioma underwent a craniotomy with a bicoronal incision. Postoperatively, the patient presented absence of pupillary reaction in both eyes, and complained loss of vision after recovery from anesthesia. Bilateral orbital compartment syndrome was considered 18 hours postoperatively since the marked bilateral proptosis with eyelid edema and conjunctival chemosis. The patient was treated with methylprednisolone, mannitol, hyperbric oxygenation, and neurotrophic agents as recommended by the ophthalmologist. There was no improvement in visual acuity at discharge or at 3-month follow-up postoperatively.

DISCUSSION AND CONCLUSION: This is a rare case of bilateral irreversible blindness caused by orbital compartment syndrome after a craniotomy with coronal incision. Neurosurgeons need to improve the awareness of this complication for adequate prevention, such as direct ocular pressure from skin flaps, congestion from head positioning, and adequate intraoperative eye protection, and also earlier recognition and management.

PMID:37590015 | DOI:10.1097/SCS.0000000000009608

Management Strategies of Plasma Cell Granuloma Involving the Central Nervous System: A Systematic Review of the Literature

Fetched: October 8th, 2023, 5:02am GMT by Sanjeev Sreenivasan

World Neurosurg. 2023 Sep 13:S1878-8750(23)01295-0. doi: 10.1016/j.wneu.2023.09.026. Online ahead of print.

ABSTRACT

BACKGROUND: Plasma cell granuloma (PCG) is a rare clinical entity seen in the neurosurgical literature. It has often been referred to as inflammatory myofibroblastic tumor or inflammatory pseudotumor. No well-defined management guidelines exist in the literature.

METHODS: Using PRISMA guidelines, we systematically reviewed the literature in PubMed and Google Scholar using MeSH terms: intracranial plasma cell granuloma, myofibroblastic tumor, intracranial pseudotumor, spinal plasma cell granuloma. We analyzed the clinical presentation, treatment strategies, clinical outcomes, and follow-up across different studies.

RESULTS: Eighty-three studies were included presenting 108 cases. Primary extracranial disease was seen in 4 patients and primary central nervous system (CNS) disease in 104. In the combined cohort, multicompartmental disease was seen in 22 (20.8%) patients. Headache (n=40, 42.59%) was the most common clinical symptom. Surgical excision (n=86, 79.6%) was the most common primary treatment used. Radiation therapy, steroids, and chemotherapy (methotrexate/6-mercaptopurine/rituximab) were also used. Disease recurrence was noted in 25 (33.3%) patients and residual disease in 33 (30.5%). Mortality was seen in 4 (3.7%) patients. In the cranial PCG subgroup (n=87), 81 (93.1%) patients had solitary lesions, and 6 (6.8%) had multiple lesions. Recurrence after primary surgery was noted in 27.58% (n=24). In the spinal PCG subgroup (n=17), the thoracic spine was the most common location (n=9, 52.9%) and recurrence was seen in 5.84% (n=1).

CONCLUSIONS: Combination of multiple treatment modalities is needed when approaching this complex disease. Spinal PCGs respond favorably to gross total excision, with a low recurrence rate. Cranial PCGs warrant intense follow-up with secondary chemotherapy/radiation/steroids in recurrent cases.

PMID:37708970 | DOI:10.1016/j.wneu.2023.09.026

Posterior fossa choroidplexus papilloma in the pediatric population: case series and literature review

Fetched: October 7th, 2023, 5:01am GMT by Rodrigo Inácio Pongeluppi

Arq Neuropsiquiatr. 2023 Sep;81(9):825-834. doi: 10.1055/s-0043-1770351. Epub 2023 Aug 21.

ABSTRACT

Choroid plexus papillomas (CPPs) are rare benign neoplasms which are particularly uncommon in the posterior fossa in children. We herein present a case series of five patients treated at a tertiary care hospital. A comprehensive literature review was also carried out. The patients treated at the tertiary care hospital were aged between 4 and 16 years. Gross total resection (GTR) was initially achieved in two patients. All patients showed clinical improvement. Moreover, 27 articles published between 1975 and 2021 were selected for the literature review, totaling 46 patients; with the 5 patients previously described, the total sample was composed of 51 cases, With a mean age was 8.2 years. The lesions were located either in the fourth ventricle (65.3%) or the cerebellopontine angle (34.7%). Hydrocephalus was present preoperatively in 66.7% of the patients, and a permanent shunt was required in 31.6% of the cases. The GTR procedure was feasible in 64.5%, and 93.8% showed clinical improvement. For CPPs, GTR is the gold standard treatment and should be attempted whenever feasible, especially because the role of the adjuvant treatment remains controversial. Neuromonitoring is a valuable tool to achieve maximal safe resection. Hydrocephalus is common and must be recognized and promptly treated. Most patients will need a permanent shunt. Though there is still controversy on its efficacy, endoscopic third ventriculostomy is a safe procedure, and was the authors' first choice to treat hydrocephalus.

PMID:37604205 | PMC:PMC10550351 | DOI:10.1055/s-0043-1770351

Permalink for 'Rare posterior fossa EWSR1-PATZ1 gene fusion glioneuronal tumour-mimicking ependymoma in an adolescent successfully treated with surgery alone'

Rare posterior fossa EWSR1-PATZ1 gene fusion glioneuronal tumour-mimicking ependymoma in an adolescent successfully treated with surgery alone

Fetched: October 7th, 2023, 5:01am GMT by Nikhil Kumar

BMJ Case Rep. 2023 Oct 4;16(10):e256055. doi: 10.1136/bcr-2023-256055.

NO ABSTRACT

PMID:37793844 | PMC:PMC10551878 | DOI:10.1136/bcr-2023-256055

Treatment of hypothalamic obesity in people with hypothalamic injury: new drugs are on the horizon

Fetched: October 6th, 2023, 5:01am GMT by Christian L Roth

Front Endocrinol (Lausanne). 2023 Sep 13;14:1256514. doi: 10.3389/fendo.2023.1256514. eCollection 2023.

ABSTRACT

Hypothalamic obesity (HO) is a complex and rare disorder affecting multiple regulatory pathways of energy intake and expenditure in the brain as well as the regulation of the autonomic nervous system and peripheral hormonal signaling. It can be related to monogenic obesity syndromes which often affect the central leptin-melanocortin pathways or due to injury of the hypothalamus from pituitary and hypothalamic tumors, such as craniopharyngioma, surgery, trauma, or radiation to the hypothalamus. Traditional treatments of obesity, such as lifestyle intervention and specific diets, are still a therapeutic cornerstone, but often fail to result in meaningful and sustained reduction of body mass index. This review will give an update on pharmacotherapies of HO related to hypothalamic injury. Recent obesity drug developments are promising for successful obesity intervention outcomes.

PMID:37780616 | PMC:PMC10533996 | DOI:10.3389/fendo.2023.1256514

Primary mediastinal choriocarcinoma in an 18-year-old male with pulmonary and brain metastasis: A case report

Fetched: October 6th, 2023, 5:01am GMT by Hanlin Wang

Clin Respir J. 2023 Oct;17(10):1082-1087. doi: 10.1111/crj.13691. Epub 2023 Aug 23.

ABSTRACT

Primary mediastinal choriocarcinoma, also known as non-pregnant choriocarcinoma, is a rare malignancy unrelated to pregnancy, with a higher incidence in males. And primary mediastinal choriocarcinoma is mostly associated with organ and lymph node metastasis, with rapid progression and poor prognosis. Here, we report an extremely rare case of the primary anterior mediastinal choriocarcinoma that occurred in an 18-year-old man with multiple metastases of the lung and brain.

PMID:37614074 | PMC:PMC10543098 | DOI:10.1111/crj.13691

Cerebrospinal fluid exosomal protein alterations via proteomic analysis of NSCLC with leptomeningeal carcinomatosis

Fetched: October 5th, 2023, 5:01am GMT by Lan Hou

J Neurooncol. 2023 Sep;164(2):367-376. doi: 10.1007/s11060-023-04428-x. Epub 2023 Sep 1.

ABSTRACT

PURPOSE: Leptomeningeal carcinomatosis (LC) is a rare complication of non-small cell lung cancer (NSCLC) with highly mortality. Cerebrospinal fluid (CSF) as a special kind of tumor microenvironment (TME) better represents alterations than plasma. However, the clinical value of protein profiles of exosome in CSF as liquid biopsy remains unclear.

METHODS: In this study, CSF samples of NSCLC patients with (LC group) or without (NSCLC group) LC were collected and compared to patients without tumors (normal group). CSF exosomes were isolated by ultracentrifugation and protein profiles were performed by label-free proteomics. Differentially expressed proteins (DEPs) were detected by bioinformatics tools and verified by parallel reaction monitoring (PRM).

RESULTS: A total of 814 proteins were detected. Bioinformatics analysis revealed their shared function in the complement activation, extracellular region, and complement and coagulation cascades. Between LC and NSCLC group, 72 DEPs were found among which FN1 demonstrated the highest betweenness centrality (BC) after protein-protein interaction network analysis.

CONCLUSION: We investigated the application of label free and PRM based proteomics to detect key proteins related to LC. FN1 may serve as potential indicator to classify LC and NSCLC. Extracellular matrix (ECM) and epithelial-mesenchymal transition (EMT) are important in the process of LC. These data is promising for early prediction and diagnosis of LC.

PMID:37656377 | PMC:PMC10522761 | DOI:10.1007/s11060-023-04428-x

Brazilian Pediatric Patients with Gliomas: Treatment Characteristics and Survival Outcomes

Fetched: October 4th, 2023, 5:02am GMT by M T M Starling

Int J Radiat Oncol Biol Phys. 2023 Oct 1;117(2S):e531-e532. doi: 10.1016/j.ijrobp.2023.06.1814.

ABSTRACT

PURPOSE/OBJECTIVE(S): Despite being the second most frequent tumors in children, pediatric central nervous system (CNS) tumors are rare, and there are limited epidemiological data. The current study aimed to determine the survival rates of patients diagnosed with pediatric gliomas in Brazil, accounting for the influence of age, treatment modalities, and tumor site using population-based national database.

MATERIALS/METHODS: Patients diagnosed with pediatric gliomas of CNS from 1999-2020 were identified from The Fundação Oncocentro de São Paulo database. The Kaplan-Meier and the log-rank test were used for survival analysis.

RESULTS: A total of 1296 patients were included. The most common histologic tumor type were glioblastomas (38.27%; n = 496), pilocytic astrocytoma (32.87%; n = 426) and astrocytoma grade II (20.76%; n = 269) A total of 379 (29.24%) had brainstem tumor. The 1-year, 3-year 5-year OS for pilocytic astrocytoma were 93.72%, 89.98%, and 88.97%; for grade II 80,36%, 71,89%, 68,60%; for grade III 53,72%; 31,87%, 28,33%; and for glioblastoma 52,90%, 28,76%, 25,20%, respectively. Brainstem tumors had the worse OS compared to no brainstem tumors (p = 0.001). For high-grade glioma (grade III and IV) excluding brainstem tumors (n = 570), young patients had greater median OS (0 to 3 years: 22 months; 4 to 18 years: 13 months - p = 0.005). Regarding the treatment modalities, combined treatments were associated with higher median survival compared to less intensive therapy (surgery: 11 months; surgery and chemotherapy: 16 months; surgery, radiotherapy, and chemotherapy: 20 months; p = 0.005) CONCLUSION: In our cohort, low-grade gliomas had favorable prognoses and outcomes. Patients diagnosed with glioblastomas and brainstem gliomas had the worst OS. For high-grade gliomas, undergoing treatment de-intensification in the Brazilian pediatric population is associated with worse survival.

PMID:37785649 | DOI:10.1016/j.ijrobp.2023.06.1814

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