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PubMed - Rare Brain Tumor (100 unread)

Systematic Review of Spinal Lymphomatoid Granulomatosis Cases

Fetched: June 19th, 2021, 5:01am GMT by Naotaka Iwamoto

World Neurosurg X. 2021 Apr 30;11:100106. doi: 10.1016/j.wnsx.2021.100106. eCollection 2021 Jul.

ABSTRACT

Lymphomatoid granulomatosis (LYG) is a rare Epstein-Barr virus-associated systemic angiocentric and angiodestructive lymphoproliferative disorder. It commonly involves the lungs and can also affect the skin, liver, kidney, and central nervous system. It can rarely occur in the spine, however, the details are unclear. We performed a systematic review of published cases (including our 1 case) of spinal LYG. We performed a systematic search of studies in English on spinal LYG, focusing on its clinical features, imaging, and treatments, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines on the PubMed database. We identified 14 patients from the literature. We also found 1 case of isolated cervical LYG (grade 3) who was treated with steroid and radiation therapy for the spinal lesion after pathologic diagnosis. We performed a pooled analysis of these 15 cases. The mean age was 43.4 years, and 13 of the 15 patients were male. Brain lesions were present in 11 of 12 intramedullary spinal lesions, and only 1 was an isolated spinal LYG case. Regarding the diagnostic methods, 1 case was not described. Of the 14 cases described, 12 patients underwent biopsies (7 brain, 4 lung, and 1 spinal cord lesion) and 2 underwent surgical removal for an extramedullary lesion. In the overall prognosis from a mean follow-up period of 21.6 months, 4 patients died despite several treatments. Spinal LYG, particularly isolated spinal LYG, is rare. Thus further accumulation of cases may be necessary to better understand its characteristics.

PMID:34142079 | PMC:PMC8181181 | DOI:10.1016/j.wnsx.2021.100106

Permalink for 'European Reference Network for rare adult solid cancers, statement and integration to health care systems of member states: a position paper of the ERN EURACAN'

European Reference Network for rare adult solid cancers, statement and integration to health care systems of member states: a position paper of the ERN EURACAN

Fetched: June 18th, 2021, 5:01am GMT by J-Y Blay

ESMO Open. 2021 Jun 14;6(4):100174. doi: 10.1016/j.esmoop.2021.100174. Online ahead of print.

NO ABSTRACT

PMID:34139485 | DOI:10.1016/j.esmoop.2021.100174

Permalink for 'Metabolic, immunohistochemical, and genetic profiling of a cerebellar liponeurocytoma with spinal dissemination: a case report and review of the literature'

Metabolic, immunohistochemical, and genetic profiling of a cerebellar liponeurocytoma with spinal dissemination: a case report and review of the literature

Fetched: June 18th, 2021, 5:01am GMT by Seiichiro Hirono

Brain Tumor Pathol. 2021 Jun 17. doi: 10.1007/s10014-021-00405-2. Online ahead of print.

ABSTRACT

Cerebellar liponeurocytoma (cLNC), categorized as a World Health Organization grade II tumor, is a rare neoplasm characterized by advanced neuronal/neurocytic differentiation and focal lipid accumulation in neuroepithelial tumor cells. However, the expression and genetic profiling of cLNC have been poorly studied. A 44-year-old woman with a three-year history of cerebellar ataxia and numbness in lower extremities underwent radiological examination revealing multiple contrast-enhancing tumors at the floor of the fourth ventricle and in the lower vermis, and spinal dissemination. The high uptake of 11 C-methionine in positron emission tomography (Met-PET) supported the preoperative cLNC diagnosis. Subtotal removal of the tumor around the obex and inferior vermis was performed. Histologically, the tumor was composed of small, uniform cells with round nuclei in a sheet-like fashion. Tumor cells were diffusely reactive for the neuronal markers synaptophysin and neurofilament. Vacuolate cells with a displacement of nuclei suggested the accumulation of lipid, which was further supported by immunohistochemical staining of S-100. These findings confirmed the diagnosis of cLNC. Next-generation sequencing of tumoral DNA detected a splice site mutation in the ATRX gene. Further reports of cLNC cases with detailed expression and genetic profiles are essential for precise diagnosis and clarifying the oncogenic pathway in cLNC.

PMID:34138409 | DOI:10.1007/s10014-021-00405-2

Pathogenic effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis

Fetched: June 18th, 2021, 5:01am GMT by Kristi L Russell

Neurology. 2021 Jun 16:10.1212/WNL.0000000000012285. doi: 10.1212/WNL.0000000000012285. Online ahead of print.

ABSTRACT

OBJECTIVE: To identify novel disease associated loci for amyotrophic lateral sclerosis (ALS), we utilized sequencing data and performed in vitro and in vivo experiments to demonstrate pathogenicity of mutations identified in TP73.

METHODS: We analyzed exome sequences of 87 sporadic ALS patients and 324 controls, with confirmatory sequencing in independent ALS cohorts of >2,800 patients. For the top hit, TP73, a regulator of apoptosis, differentiation, and a binding partner as well as homolog of the tumor suppressor gene TP53, we assayed mutation effects using in vitro and in vivo experiments. C2C12 myoblast differentiation assays, characterization of myotube appearance, and immunoprecipitation of p53-p73 complexes were perform in vitro. In vivo, we used CRISPR/Cas9 targeting of zebrafish tp73 to assay motor neuron number and axon morphology.

RESULTS: Five heterozygous rare, nonsynonymous mutations in TP73 were identified in our sporadic ALS cohort. In independent ALS cohorts, we identified an additional 19 rare, deleterious variants in TP73. Patient TP73 mutations caused abnormal differentiation and increased apoptosis in the myoblast differentiation assay, with abnormal myotube appearance. Immunoprecipitation of mutant ΔN-p73 demonstrated that patient mutations hinder ΔN-p73's ability to bind p53. CRISPR/Cas9 knockout of tp73 in zebrafish led to impaired motor neuron development and abnormal axonal morphology, concordant with ALS pathology.

CONCLUSION: Together, these results strongly suggest that variants in TP73 correlate with risk for ALS and indicate a novel role for apoptosis in ALS disease pathology.

PMID:34135078 | DOI:10.1212/WNL.0000000000012285

Cerebellar venous thrombosis mimicking a cerebellar tumor due to polycythemia vera: a case report

Fetched: June 18th, 2021, 5:01am GMT by Hongfeng Wen

BMC Neurol. 2021 Jun 16;21(1):225. doi: 10.1186/s12883-021-02261-1.

ABSTRACT

BACKGROUND: Cerebral venous thrombosis (CVT) occurs rarely in the general population and is frequently associated with confused clinical findings and delayed diagnosis. Isolated cerebellar cortical vein thrombosis is a very rare phenomenon.

CASE PRESENTATION: This report describes a case with CVT, which is manifested as space-occupying lesions of the cerebellar hemisphere and mimics a cerebellar tumor at the beginning. The diagnosis of CVT was finalized given the laboratory and brain biopsy findings. The etiology may be related to polycythemia vera with Janus Kinase 2 V617F mutation.

CONCLUSION: Isolated cerebellar vein thrombosis should be considered when swelling and enhancing cerebellar lesions are detected. Polycythemia vera, especially with a positive JAK2 V617F mutation, may be a rare risk factor for CVT.

PMID:34134639 | DOI:10.1186/s12883-021-02261-1

A novel histopathological grading system for ganglioglioma

Fetched: June 18th, 2021, 5:01am GMT by Antonia Carmen Lisievici

J Med Life. 2021 Mar-Apr;14(2):170-175. doi: 10.25122/jml-2021-0054.

ABSTRACT

Gangliogliomas are central nervous system tumors located in the temporal lobe of young patients, frequently associated with epilepsy. In this paper, we propose a grading system based solely on histopathological criteria. We reevaluated all cases of ganglioglioma, atypical ganglioglioma, and anaplastic ganglioglioma diagnosed between 2011 and 2020 in the Pathology Department of the Emergency Clinical Hospital Bagdasar-Arseni, based on the type of glial mitoses, the number of neuronal and glial mitoses, presence of necrosis, microvascular proliferation, eosinophilic granular bodies, hypercellularity, presence and disposition of inflammatory infiltrate and atypical pleomorphism. Based on the proposed grading system, a score of 0-4 corresponded to a benign ganglioglioma, 5-9 to an atypical ganglioglioma, and 10-18 to an anaplastic ganglioglioma. The survival rates were 90% for benign ganglioglioma, 71.43% for atypical ganglioglioma, and 62.54% for anaplastic ganglioglioma. One case of benign ganglioglioma underwent a malignant transformation into anaplastic ganglioglioma, and recurrences were noticed in 28.57% of atypical ganglioglioma cases and 30.7% of all anaplastic gangliogliomas. The presence of rare glial mitoses and hypercellularity was correlated with mortality in cases of atypical ganglioglioma. We believe this histopathological scoring system could be used as a three-tier system to identify atypical ganglioglioma cases that are bound to have an aggressive course of evolution and require close follow-up. The other option would be to convert it to a two-tier grading system that can separate low-grade gangliogliomas from high-grade ones. The latter category can encompass both atypical and anaplastic ganglioglioma due to the high mortality of both entities.

PMID:34104239 | PMC:PMC8169146 | DOI:10.25122/jml-2021-0054

Pleomorphic Xanthoastrocytoma of the Frontal Lobe in a Child: A Rare Entity

Fetched: June 17th, 2021, 5:01am GMT by Leopoldo Mandic Ferreira Furtado

Cureus. 2021 Jun 10;13(6):e15566. doi: 10.7759/cureus.15566.

ABSTRACT

Pleomorphic xanthoastrocytoma (PXA) is an infrequent neoplasm that affects children less commonly than adults. In this case report, a four-year-old boy presented with focal seizures has diagnosed with this tumor in the frontal lobe. Complete surgical resection was achieved, and histopathological features of PXA grade II were observed. During follow-up, the patient showed improvement of the focal seizures. In spite of the pleomorphic features, the PXA had a favorable prognosis.

PMID:34131549 | PMC:PMC8195545 | DOI:10.7759/cureus.15566

Tumefactive demyelination appearing as multiple cystic brain lesions

Fetched: June 17th, 2021, 5:01am GMT by David Wynne

World Neurosurg. 2021 Jun 12:S1878-8750(21)00845-7. doi: 10.1016/j.wneu.2021.05.132. Online ahead of print.

ABSTRACT

Tumefactive demyelinating lesions (TDL) are a rare sequalae of idiopathic inflammatory demyelinating diseases (IIDD) of the central nervous system (CNS). Their propensity to mimic tumor and abscess poses a diagnostic challenge for the clinician. Our case depicts TDL causing right hand focal sensory seizures in an otherwise healthy 35-year-old female. The differential diagnosis of metastatic disease and infection were excluded on histology. Ensuing magnetic resonance imaging (MRI) of the cord, in addition to cerebral spinal fluid (CSF) analysis, supported the diagnosis of IIDD. This case highlights the need to consider the rare diagnosis of TDL when imaging shows cystic brain lesions in an otherwise healthy young adult.

PMID:34129977 | DOI:10.1016/j.wneu.2021.05.132

An unexpected intracerebral lesion - case report of a superinfected aspergillosis mimicking a brain metastasis

Fetched: June 17th, 2021, 5:01am GMT by Basil Erwin Grüter

BMC Infect Dis. 2021 Jun 7;21(1):537. doi: 10.1186/s12879-021-06176-7.

ABSTRACT

BACKGROUND: Invasive aspergillosis of the central nervous system is a rare but increasingly prevalent disease. We present the unusual case of an immunosuppressed patient suffering from unexpected superinfected invasive aspergillosis with cerebral, pulmonal, and adrenal manifestations, mimicking a metastasized bronchial carcinoma. This report reveals the importance of including aspergillosis in the differential diagnosis of a cerebral mass lesion in the light of unspecific clinical findings.

CASE PRESENTATION: A 58-year-old immunocompromised female presented to our emergency department with a single tonic-clonic seizure. Imaging showed a ring enhancing cerebral mass with perifocal edema and evidence of two smaller additional hemorrhagic cerebral lesions. In the setting of a mass lesion in the lung, and additional nodular lesions in the left adrenal gland the diagnosis of a metastasized bronchus carcinoma was suspected and the cerebral mass resected. However, histology did not reveal any evidence for a neoplastic lesion but septate hyphae consistent with aspergillus instead and microbiological cultures confirmed concomitant staphylococcal infection.

CONCLUSIONS: A high index of suspicion for aspergillus infection should be maintained in the setting of immunosuppression. Clinical and radiological findings are often unspecific and even misleading. Definite confirmation usually relies on tissue diagnosis with histochemical stains. Surgical resection is crucial for establishing the diagnosis and guiding therapy with targeted antifungal medications.

PMID:34098877 | PMC:PMC8186049 | DOI:10.1186/s12879-021-06176-7

Concurrence of craniopharyngioma and meningioma: a case report and systematic review of the literature

Fetched: June 15th, 2021, 5:01am GMT by Arash Salehipour

Br J Neurosurg. 2021 Jun 14:1-6. doi: 10.1080/02688697.2021.1937520. Online ahead of print.

ABSTRACT

Craniopharyngioma (CPG) is a benign epithelial tumor that originates from Rathke's pouch. Meningiomas (MNG) are neoplasms of meningothelial cell. The patient is a 42-year-old female who presented with left-sided temporal headaches and visual acuity impairment. Neurological examination revealed bilateral peripheral visual field defects. Imaging of the brain showed a hypointense solid-cystic sellar lesion with suprasellar extension without calcification which enhanced with contrast. Also present was a second, contrast-enhancing extra axial lesion overlying the olfactory groove. The patient had no history of tumor surgery or radiation therapy. Both of the lesions were operated for resection and post operation status was uneventful. This study reports non-radiation related co-occurrence of a craniopharyngioma (CPG) and a meningioma (MNG). We reviewed published articles between 1966 and 2020, and found that although MNGs are the most commonly occurring brain tumors, the occurrence of MNG and CPG together with no relation to radiation is relatively rare, reported only 7 times in living patients. By analyzing the data and keeping in mind that there is no proven common genetic background and risk factor between them, their co-occurrence, shows the importance of further investigation to clear any possible relationship between the two other than mere coincidence.

PMID:34124976 | DOI:10.1080/02688697.2021.1937520

Serotoninergic brain dysfunction in neuroendocrine tumor patients: A scoping review

Fetched: June 15th, 2021, 5:01am GMT by Anna La Salvia

Compr Psychiatry. 2021 May 19;109:152244. doi: 10.1016/j.comppsych.2021.152244. Online ahead of print.

ABSTRACT

INTRODUCTION: Neuroendocrine tumors (NETs) are rare and malignant neoplasms characterized by their potential to produce metabolically active substances with the capacity to bring about clinical syndromes. The clinical expression of serotonin-producing NETs is known as carcinoid syndrome (CS). The synthesis of serotonin in the brain is dependent on tryptophan availability. At the central level, serotonin is indispensable for mood, anxiety, and sleep regulation. In CS patients, around 60% of all tryptophan is reported to be consumed by tumor cells for the peripheral synthesis of serotonin, increasing the risk of a central deficiency and thus psychiatric disorders.

MATERIALS AND METHODS: This manuscript reviews the existing literature about psychiatric disorders associated with NETs and addresses the safety of psychiatric drugs in these patients. A systematic search of the biomedical literature was performed using the following databases: PubMed, Embase, CINAHL (EBSCO), PsycInfo (OVID), and Cochrane CENTRAL (Wiley). The database search included articles published between January 1965 and February 2021. Relevant information were charted using a calibrated charting-form.

RESULTS: Twenty-two articles were included in the present review. The overall population size of the studies came to 3319 patients. All patients presented a confirmed diagnosis of NET. The information about the presence of CS was confirmed in 351 cases. The psychiatric symptoms reported included mood disturbances (including, depression and anxiety), psychoses, impulse control disorders and sleeping alterations. We also evaluated the presence of cognitive impairments in NET patients. Finally, we summarize the available data regarding the safety of psychiatric drugs in this setting.

CONCLUSIONS: Psychiatric disorders among NET patients are poorly recognized, and therefore have received very little research attention. As a result, no standardized algorithm is presently available. Our findings support detailed psychiatric evaluation in NET patients, especially in those presenting CS and symptoms suggestive of psychiatric involvement. Not only do cognitive impairment and psychiatry symptoms negatively impact health-related quality of life in cancer patients, they can also reduce survival rates.

PMID:34120056 | DOI:10.1016/j.comppsych.2021.152244

Intracranial myeloid sarcoma presentation in distant acute myeloid leukemia remission

Fetched: June 15th, 2021, 5:01am GMT by Dennis Lee

J Clin Neurosci. 2021 Jul;89:158-160. doi: 10.1016/j.jocn.2021.05.001. Epub 2021 May 12.

ABSTRACT

Intracranial myeloid sarcoma (IMS) is a rare central nervous system manifestation of hematopoietic neoplasms of myeloid origin. We report the first case of IMS treatment with an isocitrate dehydrogenase-2 (IDH-2) inhibitor, Enasidenib, following surgical resection, whole-brain radiation, and consolidation Etoposide/Cytarabine therapy. A 42-year-old female was diagnosed with IMS after a 10-year remission of her acute myeloid leukemia (AML). She underwent surgical debulking and had postoperative resolution of her visual symptoms. She received adjuvant radiation and medical management, and continues to show no evidence of recurrence or progression at 17 months postoperatively. This case is notable for an isolated IMS presentation in a patient with a very distant history of AML remission, and without evidence of concurrent bone marrow relapse. The goals of neurosurgical intervention should be symptomatic relief of mass effect and pathological diagnosis, due to the sensitivity of IMS to adjuvant radiation and medical management such as IDH-2 inhibitors.

PMID:34119261 | DOI:10.1016/j.jocn.2021.05.001

A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia

Fetched: June 14th, 2021, 5:01am GMT by Ivana Radulovic

Eur J Med Genet. 2021 Jun 9:104260. doi: 10.1016/j.ejmg.2021.104260. Online ahead of print.

ABSTRACT

Fanconi anemia (FA) due to biallelic mutations in the BRCA2 gene is very rare and associated with an extremely high risk of early-onset of aggressive childhood malignancies, predominantly brain tumors, leukemia, and nephroblastoma. Here, we present a consanguineous family with three affected children of the D1 subtype of FA and describe the clinical consequences of the earliest known biallelic nonsense/stop-gain germ-line mutation in BRCA2, exon 5 c.469A>T, that leads to a premature stop of translation, p.Lys157*. The three patients were born with severe intrauterine growth restrictions and different degrees of congenital malformations. Altogether, they developed eight distinct malignancies and died within their first three years of life. Treatment with a reduced chemotherapy regimen was only performed in patient 2 for his first tumor, a nephroblastoma, which the patient tolerated well for eight months, until he developed myelodysplastic syndrome (MDS) and then acute myeloid leukemia (AML). Finally, the third patient experienced a hepatoblastoma, an unclassified brain tumor and MDS in parallel and died in her second year of life. Our report re-emphasizes the aggressiveness and fatality of the FA-D1 children with biallelic BRCA2 nonsense mutations, that are both located before exon 11, which contains binding domains for the RAD51 recombinase.

PMID:34118472 | DOI:10.1016/j.ejmg.2021.104260

Multiple endocrine neoplasia 2A with RET mutation p.Cys611Tyr: A case report

Fetched: June 12th, 2021, 5:01am GMT by Yan Li

Medicine (Baltimore). 2021 Jun 4;100(22):e26230. doi: 10.1097/MD.0000000000026230.

ABSTRACT

RATIONALE: Multiple endocrine neoplasia 2A (MEN2A) is a rare autosomal-dominant genetic syndrome, frequently misdiagnosed or neglected clinically, resulting in delayed therapy to patients.

PATIENT CONCERNS: A 47-year-old Chinese male patient underwent laparoscopic right adrenal tumorectomy, and postoperative pathology confirmed the tumor as pheochromocytoma (PHEO). He was readmitted to the department of endocrinology and metabolism due to constant increase in carcinoembryonic antigen (CEA) at 5 months after the operation.

DIAGNOSIS: The patient was confirmed with medullary thyroid carcinoma (MTC), multiple neck lymph node metastasis, and pituitary microadenoma. The p.Cys611Tyr (c.1832G>A, C611Y) mutation was detected. Therefore, he was diagnosed with MEN2A.

INTERVENTIONS: He underwent total thyroidectomy. The gene-sequencing analysis of his family was conducted, and the C611Y mutation was detected in his daughter.

OUTCOMES: The level of carcinoembryonic antigen decreased significantly after thyroidectomy in this patient. Long-term follow-up management was conducted. Elevated serum calcitonin and bilateral thyroid nodules were found in his 13-year-old daughter. Thus, MEN2A was highly suspected and she was suggested to undergo total thyroidectomy.

CONCLUSION: Patients with MEN2A should be screened regularly and managed by a multidisciplinary team.

PMID:34087905 | PMC:PMC8183697 | DOI:10.1097/MD.0000000000026230

Chronic-phase chronic myeloid leukemia with intracranial hemorrhage complicated with tumor lysis syndrome

Fetched: June 11th, 2021, 5:01am GMT by Chigusa Oyama

Rinsho Ketsueki. 2021;62(5):346-351. doi: 10.11406/rinketsu.62.346.

ABSTRACT

A 14-year-old male with autism was admitted to our hospital owing to altered consciousness and gait disturbance. Blood tests showed a white blood cell (WBC) count of 728,600/µl, and brain computed tomography revealed intracranial hemorrhage and a midline shift of the brain. The chronic phase of chronic myeloid leukemia (CML) was confirmed as per bone marrow aspiration findings. The patient underwent emergency craniotomy for hematoma removal, and he subsequently received hydroxyurea and rasburicase combination therapy. However, he developed tumor lysis syndrome (TLS) and died on the second day of hospitalization. Histopathological examination of autopsy specimens did not reveal any condition that could account for his death other than CML. Several reports have described intracranial hemorrhage during the accelerated phase or blast crisis of CML, but few have described this complication during the chronic phase. TLS concomitant with CML in the chronic phase or following hydroxyurea (an inhibitor of DNA synthesis) administration is rare. It is essential for clinicians to be aware that patients with chronic phase CML and high WBC counts may develop TLS, following the administration of hydroxyurea alone. In addition, extreme caution is warranted in severe cases accompanied by intracranial hemorrhage.

PMID:34108312 | DOI:10.11406/rinketsu.62.346

Multidisciplinary treatment of primary intracranial yolk sac tumor: A case report and literature review

Fetched: June 10th, 2021, 5:01am GMT by Zhen-Ning Xu

Medicine (Baltimore). 2021 May 14;100(19):e25778. doi: 10.1097/MD.0000000000025778.

ABSTRACT

RATIONALE: Intracranial yolk sac tumors (YSTs) are rare malignancies with limited treatment options and a dismal prognosis. They are usually managed with surgical resection and chemoradiotherapy.

PATIENT CONCERNS: Here, we report a patient with primary YST in the pineal region who achieved long term survival. Despite undergoing treatment, he experienced several recurrences over a 15-year period.

DIAGNOSIS: Brain magnetic resonance imaging (MRI) demonstrated the presence of space-occupying lesions in the pineal region and the medial tail of the left lateral ventricle. The tumors were excised, and the histological diagnosis suggested an intracranial YST.

INTERVENTIONS: The patient achieved long term survival after combined modality therapy including surgery, stereotactic radiosurgery (SRS)/intensity modulated radiation therapy (IMRT), chemotherapy, and targeted therapy.

OUTCOMES: The disease remained stable. However, the patient gave up treatment and passed away in October 2020, with a total survival of about 15 years.

LESSONS: To the best of our knowledge, this patient with intracranial YST had received a longer survival compared with other published reports. We summarize previously published reports of intracranial YST and discuss the importance of multidisciplinary treatment. SRS may have a role, as a focal boost to residual tumor after resection or in case of recurrence after conventional radiotherapy, in the multimodality management of intracranial YSTs.

PMID:34106610 | PMC:PMC8133229 | DOI:10.1097/MD.0000000000025778

A case of hepatic paragonimiasis was misdiagnosed as hepatocellular carcinoma with rupture and haemorrhage

Fetched: June 10th, 2021, 5:01am GMT by Wen-Xiang Jin

J Int Med Res. 2021 Jun;49(6):3000605211012668. doi: 10.1177/03000605211012668.

ABSTRACT

Paragonimiasis is a disease caused by parasitic infections that mainly involve the lungs. However, it can also produce ectopic infections, such as when the parasites invade the liver, brain and subcutaneous tissue, which then cause different symptoms. This current case report describes a 55-year-old male patient with hepatic paragonimiasis that was misdiagnosed as liver cancer with rupture and haemorrhage. The initial computed tomography findings suggested ruptured liver cancer. The patient underwent laparoscopic right hemihepatectomy. Postoperative pathological analysis resulted in a diagnosis of hepatic paragonimiasis. The patient recovered well postoperatively and was treated with 25 mg/kg praziquantel orally three times a day for 3 days after discharge with good efficacy. In this present case, the rupture and haemorrhage of the liver mass made it difficult for the treating physicians to consider hepatic paragonimiasis, which lead to the initial misdiagnosis of this patient. Although paragonimiasis is very rare, medical staff should be vigilant and have a comprehensive understanding of the different diseases that can cause liver masses so that misdiagnosis can be avoided.

PMID:34098756 | DOI:10.1177/03000605211012668

Primary tumor side is associated with prognosis of colorectal cancer patients with brain metastases

Fetched: June 9th, 2021, 5:01am GMT by E S Bergen

ESMO Open. 2021 Jun 4;6(3):100168. doi: 10.1016/j.esmoop.2021.100168. Online ahead of print.

ABSTRACT

BACKGROUND: Brain metastases (BM) are a rare complication in colorectal cancer (CRC) patients and associated with an unfavorable survival prognosis. Primary tumor side (PTS) was shown to act as a prognostic and predictive biomarker in several trials including metastatic CRC (mCRC) patients. Here, we aim to investigate whether PTS is also associated with the outcome of CRC patients with BM.

METHODS: Patients treated for CRC BM between 1988 and 2017 at an academic care center were included. Right-sided CRC was defined as located in the appendix, cecum and ascending colon and left-sided CRC was defined as located in the descending colon, sigma and rectum.

RESULTS: Two hundred and eighty-one CRC BM patients were available for this analysis with 239/281 patients (85.1%) presenting with a left-sided and 42/281 patients (14.9%) with a right-sided primary CRC. BM-free survival (BMFS) was significantly longer in left-sided compared with right-sided CRC patients (33 versus 20 months, P = 0.009). Overall survival from CRC diagnosis as well as from diagnosis of BM was significantly longer in patients with a left-sided primary (42 versus 25 months, P = 0.002 and 5 versus 4 months, P = 0.005, respectively). In a multivariate analysis including graded prognostic assessment, PTS remained significantly associated with prognosis after BM (hazard ratio 0.65; 95% confidence interval: 0.46-0.92 months, P = 0.0016).

CONCLUSIONS: PTS was associated with survival times after the rare event of BM development in CRC patients. Therefore, its prognostic value remains significant even thereafter.

PMID:34098230 | PMC:PMC8190486 | DOI:10.1016/j.esmoop.2021.100168

Pediatric Glioma

Fetched: June 9th, 2021, 5:01am GMT by Keita Terashima

No Shinkei Geka. 2021 May;49(3):640-646. doi: 10.11477/mf.1436204438.

ABSTRACT

Pediatric gliomas include various types of glioma broadly categorized as low- or hi-grade based on histopathological features. Clinically significant types include cerebellar astrocytomas, optic pathway / hypothalamic pilocytic astrocytomas, and brainstem gliomas. Neurosurgical roles vary for different kinds of pediatric gliomas. Since these representative tumors remain rare, the patients should be directed toward facilities with experienced neurosurgeons. Radiotherapy and chemotherapy are very important as either adjuvant or primary treatment modalities. Recent advancements in molecular biology have revealed unique genetic aberrations in different types of pediatric gliomas. The RAS/MAPK pathway anomalies, including BRAF-KIAA1549 fusion and BRAF V600E mutation, are present in most low-grade gliomas. BRAF/MEK-inhibitors have yielded promising clinical study results. Diffuse midline gliomas, including diffuse intrinsic pontine gliomas, often harbor H3 mutations such as H3K27M. Agents that target these molecular aberrations are unavailable. Because gliomas in infants are sub-categorized by their genetic abnormalities, novel agents targeting ALK, ROS1, or NTRK fusions are promising treatments.

PMID:34092570 | DOI:10.11477/mf.1436204438

Acute Sterile Meningitis as a Primary Manifestation of Pituitary Apoplexy

Fetched: June 8th, 2021, 5:01am GMT by Gayane Tumyan

AACE Clin Case Rep. 2020 Dec 28;7(2):117-120. doi: 10.1016/j.aace.2020.11.024. eCollection 2021 Mar-Apr.

ABSTRACT

OBJECTIVE: We report a case of pituitary apoplexy (PA) with negative radiographic findings for PA and cerebrospinal fluid (CSF) analysis consistent with neutrophilic meningitis. PA is a rare endocrinopathy requiring prompt diagnosis and treatment. Presentation with acute neutrophilic meningitis is uncommon.

METHODS: The diagnostic modalities included pituitary function tests (adrenocorticotropic hormone, thyroid-stimulating hormone, luteinizing hormone, prolactin), brain computed tomography and magnetic resonance imaging (MRI), and CSF analysis.

RESULTS: A 67-year-old man presented with worsening headache, nausea, and retching. He was somnolent with an overall normal neurologic examination other than a peripheral vision defect in the left eye. MRI showed a pituitary mass bulging into the suprasellar cistern with optic chiasm elevation, consistent with pituitary macroadenoma. Laboratory evaluation revealed decreased levels of adrenocorticotropic hormone, random cortisol, thyroid-stimulating hormone, thyroxine, luteinizing hormone, and testosterone. He had worsening encephalopathy with left eye ptosis and decreased vision, prompting a repeat computed tomography and MRI, showing no interval change in the pituitary adenoma or evidence of bleeding. CSF analysis revealed a leukocyte count of 1106/mm³ (89% neutrophils), a total protein level of 138 mg/dL, red blood cell count of 2040/mm³ without xanthochromia, and glucose level of 130 mg/dL. The CSF culture result was negative. Transsphenoidal resection revealed a necrotic pituitary adenoma with apoplexy.

CONCLUSIONS: Including PA in the differential diagnosis of acute headache is important, particularly in patients with visual disturbances. PA can present with sterile meningitis, mimicking acute bacterial meningitis. While neuroimaging can help detect PA, the diagnosis of PA remains largely clinical.

PMID:34095467 | PMC:PMC8053621 | DOI:10.1016/j.aace.2020.11.024

Rare and Serious Adverse Effects of Anti-Tumor Necrosis Factor-Alpha (TNF-alpha) Agents in Crohn's Disease

Fetched: June 8th, 2021, 5:01am GMT by Sun Kim

Cureus. 2021 Apr 30;13(4):e14768. doi: 10.7759/cureus.14768.

ABSTRACT

Crohn's disease patients experience a higher rate of postoperative complications than do general surgical patients. The use of anti-tumor necrosis factor-alpha (anti-TNF-α) therapy in the treatment of severe Crohn's disease and other autoimmune inflammatory conditions is increasing and expanding. We describe the case of a 47-year-old female Crohn's patient who experienced two rare and serious adverse effects of anti-TNF-α therapy following laparoscopic ileocectomy for obstructive Crohn's disease. On the first postoperative day, the patient developed intra-abdominal hemorrhage requiring transfusion and emergency abdominal exploration. Findings were consistent with a rare hemorrhagic complication of her anti-TNF-α medication. She recovered and was ultimately discharged from the hospital without further complications. Less than 24 hours following discharge, the patient suffered two grand mal seizures. Imaging demonstrated white matter demyelination of the brain. The patient recovered, again, with no clinical sequelae. These two dangerous events are known to rarely be associated with the use of such biologic agents. We review both the therapeutic actions of these medications and the theorized etiologies for these two rare adverse events. Ultimately, this patient's complications should serve as a cautionary tale in the use of such therapeutics, as well as a reminder of the risks associated with anti-TNF-α use.

PMID:34094733 | PMC:PMC8164735 | DOI:10.7759/cureus.14768

Fluid-fluid level as an atypical radiological sign of clival chordoma

Fetched: June 8th, 2021, 5:01am GMT by Fahad B Albadr

Radiol Case Rep. 2021 May 19;16(7):1840-1844. doi: 10.1016/j.radcr.2021.04.038. eCollection 2021 Jul.

ABSTRACT

Chordoma is a rare and aggressive intracranial bone tumor that is difficult to diagnose and resect with a peak incident between the ages of 20-40 years old and high recurrence rate when not completely resected. We present the case of clival chordoma in an 11-year-old female patient, who reported with a chronic right-sided headache, progressive loss of vision, hoarseness of voice, and slurred speech. Fluid-fluid level on fluid-attenuated inversion recovery magnetic resonance imaging sequence can be an atypical radiological sign for clival chordoma. Thumbing of the pons as well as extension of the chordoma to the sinonasal, intracranial, vertebral, intraspinal, and orbital regions were observed. The patient underwent partial resection of the tumor and discharge home after by the end of the third week after the surgery. Histopathology report confirmed the diagnosis of chordoma.

PMID:34093929 | PMC:PMC8164003 | DOI:10.1016/j.radcr.2021.04.038

A Case of Cerebral Tuberculoma

Fetched: June 8th, 2021, 5:01am GMT by Yasuhiro Murota

No Shinkei Geka. 2021 May;49(3):683-688. doi: 10.11477/mf.1436204443.

ABSTRACT

Cerebral tuberculoma is a rare and serious form of tuberculosis. Despite advancements in imaging and laboratory diagnostics, it is challenging to diagnose cerebral tuberculoma due to its insidious nature and nonspecific findings. A 56-year-old woman was referred to our hospital for headaches. The patient had previously undergone treatment for pulmonary tuberculosis, which had been completely cured 2 months prior to presentation. Brain MRI revealed an enhanced mass lesion with surrounding edema in the right frontal lobe. Although a mild increase in the serum carcinoembryonic antigen(CEA)level and a moderate accumulation of FDG on FDG-PET indicated inflammatory changes or a malignant brain tumor, other imaging and laboratory findings were nonspecific. The mass lesion was indistinguishable from a brain tumor. Hence, the patient underwent surgical removal, and the pathological diagnosis was tuberculoma. In patients with a history of tuberculosis, cerebral tuberculoma should be considered in the differential diagnosis of intracranial mass lesions, even if the original lesion is completely cured. A mild increase in the serum CEA level and a moderate accumulation of FDG on FDG-PET were considered indicative of intracranial inflammation and consistent with cerebral tuberculoma.

PMID:34092575 | DOI:10.11477/mf.1436204443

Skull Base Primary Ewing Sarcoma: A Radiological Experience of a Rare Disease in an Atypical Location

Fetched: June 7th, 2021, 5:01am GMT by Mohd Syafiek Abdul Haq Saifuddin

Am J Case Rep. 2021 Jun 5;22:e930384. doi: 10.12659/AJCR.930384.

ABSTRACT

BACKGROUND Ewing sarcoma and primitive neuroectodermal tumor are rare tumors grouped under the spectrum of the Ewing sarcoma family of tumors. These highly malignant tumors involve the bones and commonly occur in children. Ewing sarcoma of the skull bone accounts for only 1% of all Ewing sarcomas, with primary skull base Ewing sarcoma occurring in less than 1% of cases. We present a case of skull base Ewing sarcoma with complete symptom recovery and near-total radiological resolution. CASE REPORT A 4-year-old girl initially presented with a 2-month history of vomiting, poor oral intake, weight loss, and gradual visual deterioration followed by acute symptoms of fever, breathing difficulties, and seizure. Initial computed tomography and magnetic resonance imaging of the brain displayed a large sinonasal mass with extensive regional infiltration and bony destruction and no evidence of distant metastasis. A transnasal biopsy was taken. The histopathology result revealed features of skull base Ewing sarcoma. The child was given a combination of radiotherapy and chemotherapy, to which she responded well, with a minimal residual tumor. CONCLUSIONS Skull base Ewing sarcoma is a rare entity, presenting a challenge to the reporting radiologists. Differential diagnoses of esthesioneuroblastoma, olfactory neuroepithelioma, and, more commonly, sinonasal carcinoma can be misleading since they have similar radiological appearances to skull base Ewing sarcoma, which differs in treatment regimen and prognosis. Therefore, a combination of histopathological appearance, radiographic findings, and clinical correlation is important to determine the correct diagnosis, establish the appropriate treatment regime, and improve the patient's survival.

PMID:34089579 | DOI:10.12659/AJCR.930384

Neoplastic cerebral aneurysm from triple-negative breast cancer: A case report

Fetched: June 5th, 2021, 5:01am GMT by Eric S Nussbaum

Surg Neurol Int. 2021 May 3;12:204. doi: 10.25259/SNI_74_2021. eCollection 2021.

ABSTRACT

BACKGROUND: We present a rare case of a ruptured neoplastic aneurysms (NCA) caused by metastatic spread of triple-negative breast cancer (TNBC) in a female patient in her 60s. The patient had a medical history of TNBC and presented to the emergency department after experiencing 3 days of persistent headache.

CASE DESCRIPTION: Head computed tomography (CT) revealed a small volume subarachnoid hemorrhage and digital subtraction angiography revealed a 3.9 x 3.5 x 4.2 mm aneurysm or pseudoaneurysm involving the left middle cerebral artery. The aneurysm was successfully clipped and resected, and histopathological examination confirmed triple-negative invasive ductal breast carcinoma within the aneurysm. Six weeks after surgery, she underwent stereotactic radiosurgery and began treatment with chemotherapy. Four months later, the patient presented once again with acute severe headache, and magnetic resonance imaging revealed multiple small lesions within the brain parenchyma, compatible with new metastatic deposits. The patient was subsequently treated with whole-brain radiation therapy and chemotherapy. Over the ensuing 4 months, CT revealed progression of malignancy in the chest, abdomen, and pelvis. Chemotherapy and radiation therapy were terminated, and the patient unfortunately succumbed to her disease 6 months later.

CONCLUSION: In patients with NCA with poor prognosis due to aggressive brain metastases, treatments that improve quality of life and survival time should be favored.

PMID:34084631 | PMC:PMC8168699 | DOI:10.25259/SNI_74_2021

Hemichorea induced by a sphenoid ridge meningioma

Fetched: June 5th, 2021, 5:01am GMT by Hirotaka Inoue

Surg Neurol Int. 2021 May 3;12:201. doi: 10.25259/SNI_171_2021. eCollection 2021.

ABSTRACT

BACKGROUND: Movement disorders are rare in brain tumors. We describe a 45-year-old woman with hemichorea, a concomitant contralateral sphenoid ridge meningioma.

CASE DESCRIPTION: The meningioma enlarged as her hemichorea worsened, and after meningioma resection, the hemichorea gradually subsided. N-isopropyl-p-[123I]-iodoamphetamine single-photon emission computed tomography performed preoperatively showed decreased regional cerebral blood flow (CBF) to the basal ganglia circuit ipsilateral to the tumor and, when repeated postoperatively, confirmed improved regional CBF.

CONCLUSION: We propose that the enlarging sphenoid ridge meningioma had a remote effect on regional CBF and the thalamocortical motor center and that complex changes in the basal ganglia output may have caused the hemichorea.

PMID:34084628 | PMC:PMC8168652 | DOI:10.25259/SNI_171_2021

A rare appearance of the trigeminocardiac reflex during resection of posterior parasagittal meningioma

Fetched: June 5th, 2021, 5:01am GMT by Miguel A Recinos

Surg Neurol Int. 2021 Apr 26;12:183. doi: 10.25259/SNI_737_2020. eCollection 2021.

ABSTRACT

BACKGROUND: Although a well-recognized phenomenon of the tentorium and posterior fossa, the trigeminocardiac reflex (TCR) has been rarely reported during surgery involving the posterior falx cerebri.

CASE DESCRIPTION: We present the case of a 63-year-old woman who underwent repeat resection of an atypical parasagittal meningioma involving the posterior falx. During resection, TCR was repeatedly elicited during manipulation and coagulation of the falx. Air embolism and cardiac etiologies were initially considered while TCR was not suspected, given the location. Ultimately, TCR was recognized when asystole self-resolved upon cessation of stimulus and due to its reproducibility.

CONCLUSION: Awareness by the anesthesiologist and neurosurgeon of the possibility of TCR during falcine procedures can help with rapid identification to avoid a potentially catastrophic outcome.

PMID:34084611 | PMC:PMC8168658 | DOI:10.25259/SNI_737_2020

Permalink for 'Transport of patients with giant disfiguring cranial tumors from Africa to the US for collaborative multidisciplinary treatment'

Transport of patients with giant disfiguring cranial tumors from Africa to the US for collaborative multidisciplinary treatment

Fetched: June 5th, 2021, 5:01am GMT by Eric Nussbaum

Surg Neurol Int. 2021 Apr 19;12:175. doi: 10.25259/SNI_923_2020. eCollection 2021.

ABSTRACT

BACKGROUND: Giant disfiguring cranial tumors are exceptionally rare and develop over the course of many years, typically in patients who lack access to medical care. Here, we describe four patients who were flown to our center for treatment by a multidisciplinary surgical team, who had previously been turned down for treatment at multiple international centers in Africa, Europe, and the United States (US) due to complexity and financial concerns. The case series describes socioeconomic implications and the feasibility of offering such care to patients from outside the US.

CASE DESCRIPTIONS: Four patients with giant skull disfiguring tumors were flown internationally and treated by a surgical team consisting of a complex cranial neurosurgeon, a craniofacial reconstructive plastic surgeon, and an oculoplastic surgeon. All patients underwent aggressive surgical therapy with the aim of complete tumor removal and simultaneous cranial reconstruction. A patient with osteogenic sarcoma underwent two additional resections in 3 years, with delayed reconstruction. They returned home but ultimately succumbed to the disease. A patient with ossifying fibroma required two follow-up procedures for cosmetic reconstruction and sought asylum in the US, where they remain today. Two additional patients, one with a giant plexiform neurofibroma and one with a cerebellopontine angle meningioma, achieved good results and returned to Africa 1 month and 3 weeks after surgery, respectively.

CONCLUSION: Resection of giant disfiguring cranial tumors and reconstruction of the impacted region requires an experienced multidisciplinary team. These cases can be managed by transporting such patients from areas without access to medical care to specialized centers able to provide excellent care.

PMID:34084603 | PMC:PMC8168801 | DOI:10.25259/SNI_923_2020

Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy

Fetched: June 4th, 2021, 5:01am GMT by Linda Bättig

Epileptic Disord. 2021 Jun 1. doi: 10.1684/epd.2021.1287. Online ahead of print.

ABSTRACT

Tumour-associated epilepsy accounts for a quarter of paediatric patients undergoing epilepsy surgery with the vast majority achieving long-term seizure and drug freedom. We report the case of an eight-year-old patient who presented with developmental delay and overgrowth, followed by temporal lobe seizures that were attributed to a mesio-temporal brain tumour, and who was eventually treated with epilepsy surgery. Histopathology revealed a diffuse astrocytoma but its gross total resection surprisingly failed to control the temporal lobe seizures. Genetic testing identified a de novo pathogenic variant in the NSD1 gene, thus establishing the diagnosis of Sotos syndrome. Sotos syndrome is a rare overgrowth syndrome with an increased incidence of malignancy, including the very rare occurrence of brain tumours. Seizures are frequent in patients with Sotos syndrome, often occurring with temporal lobe semiology and ictal EEG patterns in the absence of a brain lesion, and usually responding to anti-seizure medication. Our case highlights Sotos syndrome as a rare but important pitfall in the presurgical workup of temporal lobe epilepsy that should be considered particularly in MRI-negative cases but also in the presence of a focal lesion that does not fully explain the clinical picture. Most importantly, our observations underline the value of thorough presurgical diagnostics including genetic testing, even in apparently straightforward cases of lesional epilepsy, to rule out an underlying genetic aetiology that may not be treated by surgery. Finally, our findings emphasize the need to re-evaluate our less successful epilepsy surgery cases and offer informed counselling and prognostication.

PMID:34080978 | DOI:10.1684/epd.2021.1287

Gut microbiome and amyotrophic lateral sclerosis - a systematic review of current evidence

Fetched: June 4th, 2021, 5:01am GMT by Jiangwei Sun

J Intern Med. 2021 Jun 3. doi: 10.1111/joim.13336. Online ahead of print.

ABSTRACT

Amyotrophic lateral sclerosis (ALS), characterized by a loss of motor neurons in the brain and spinal cord, is a relatively rare but currently incurable neurodegenerative disease. The global incidence of ALS is estimated as 1.75 per 100,000 person-years and the global prevalence is estimated as 4.1-8.4 per 100,000 individuals. Contributions from outside the central nervous system to the etiology of ALS have been increasingly recognized. Gut microbiome is one of the most quickly growing fields of research for ALS. In this article, we performed a comprehensive review of the results from existing animal and human studies, to provide an up-to-date summary of the current research on gut microbiome and ALS. In brief, we found relatively consistent results from animal studies, suggesting an altered gut microbiome composition in experimental ALS. Publication bias might however be a concern. Findings from human studies are largely inconclusive. A few animal and human studies demonstrated the usefulness of intervention with microbial-derived metabolites in modulating the disease progression of ALS. We discussed potential methodological concerns in these studies, including study design, statistical power, handling process of biospecimens and sequencing data, as well as statistical methods and interpretation of results. Finally, we made a few proposals for continued microbiome research in ALS, with the aim to provide valid, reproducible, and translatable findings. This article is protected by copyright. All rights reserved.

PMID:34080741 | DOI:10.1111/joim.13336

Permalink for 'Therapeutic implications of improved molecular diagnostics for rare CNS-embryonal tumor entities: results of an international, retrospective study'

Therapeutic implications of improved molecular diagnostics for rare CNS-embryonal tumor entities: results of an international, retrospective study

Fetched: June 4th, 2021, 5:01am GMT by Katja von Hoff

Neuro Oncol. 2021 Jun 2:noab136. doi: 10.1093/neuonc/noab136. Online ahead of print.

ABSTRACT

BACKGROUND: Only few data are available on treatment-associated behavior of distinct rare CNS-embryonal tumor entities previously treated as "CNS-primitive neuroectodermal tumors" (CNS-PNET). Respective data on specific entities, including CNS neuroblastoma, FOXR2 activated (CNS NB-FOXR2), and embryonal tumor with multi-layered rosettes (ETMR) are needed for development of differentiated treatment strategies.

METHODS: Within this retrospective, international study, tumor samples of clinically well-annotated patients with the original diagnosis of CNS-PNET were analyzed using DNA methylation arrays (n=307). Additional cases (n=66) with DNA methylation pattern of CNS NB-FOXR2 were included irrespective of initial histological diagnosis. Pooled clinical data (n=292) were descriptively analyzed.

RESULTS: DNA methylation profiling of "CNS-PNET" classified 58(19%) cases as ETMR, 57(19%) as HGG, 36(12%) as CNS NB-FOXR2, and 89(29%) cases were classified into 18 other entities. Sixty-seven (22%) cases did not show DNA methylation patterns similar to established CNS tumor reference classes. Best treatment results were achieved for CNS NB-FOXR2 patients (5-year PFS: 63%±7%, OS: 85%±5%, n=63), with 35/42 progression-free survivors after upfront craniospinal irradiation (CSI) and chemotherapy. The worst outcome was seen for ETMR and HGG patients with 5-year PFS of 18%±6% and 22%±7%, and 5-year OS of 24%±6% and 25%±7%, respectively.

CONCLUSION: The historically reported poor outcome of CNS-PNET patients becomes highly variable when tumors are molecularly classified based on DNA methylation profiling. Patients with CNS NB-FOXR2 responded well to current treatments and a standard-risk-CSI based regimen may be prospectively evaluated. The poor outcome of ETMR across applied treatment strategies substantiates the necessity for evaluation of novel treatments.

PMID:34077956 | DOI:10.1093/neuonc/noab136

Synchronous Presentation of Rare Brain Tumors in Von Hippel-Lindau Syndrome

Fetched: June 3rd, 2021, 5:01am GMT by Mariachiara Lodi

Diagnostics (Basel). 2021 May 31;11(6):1005. doi: 10.3390/diagnostics11061005.

ABSTRACT

Von Hippel-Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). A majority of individuals (60-80%) with VHL disease will develop CNS hemangioblastomas (HMG). Endolymphatic sac tumor (ELST) is an uncommon, locally aggressive tumor located in the medial and posterior petrosal bone region. Its diagnosis is based on clinical, radiological, and pathological correlation, and it can occur in the setting of VHL in up to 10-15% of individuals. We describe a 17-year-old male who presented with a chief complaint of hearing loss. Brain and spine Magnetic Resonance Imaging documented the presence of an expansive lesion in the left cerebellar hemisphere, compatible with HMG in association with a second cerebellopontine lesion compatible with ELST. The peculiarity of the reported case is due to the simultaneous presence of two typical characteristics of VHL, which led to performing comprehensive genetic testing, thus allowing for the diagnosis of VHL. Furthermore, ELST is rare before the fourth decade of life. Early detection of these tumors plays a key role in the optimal management of this condition.

PMID:34072835 | DOI:10.3390/diagnostics11061005

Rosette-Forming Glioneuronal Tumor of the Fourth Ventricle: A Case of Relapse Treated with Proton Beam Therapy

Fetched: June 3rd, 2021, 5:01am GMT by Antonella Cacchione

Diagnostics (Basel). 2021 May 19;11(5):903. doi: 10.3390/diagnostics11050903.

ABSTRACT

Rosette-forming glioneuronal tumors (RGNTs) are rare, grade I, central nervous system (CNS) tumors typically localized to the fourth ventricle. We describe a 9-year-old girl with dizziness and occipital headache. A magnetic resonance imaging (MRI) revealed a large hypodense posterior fossa mass lesion in relation to the vermis, with cystic component. Surgical resection of the tumor was performed. A RGNT diagnosis was made at the histopathological examination. During follow-up, the patient experienced a first relapse, which was again surgically removed. Eight months after, MRI documented a second recurrence at the local level. She was a candidate for the proton beam therapy (PBT) program. Three years after the end of PBT, the patient had no evidence of disease recurrence. This report underlines that, although RGNTs are commonly associated with an indolent course, they may have the potential for aggressive behavior, suggesting the need for treatment in addition to surgery. Controversy exists in the literature regarding effective management of RGNTs. Chemotherapy and radiation are used as adjuvant therapy, but their efficacy management has not been adequately described in the literature. This is the first case report published in which PBT was proposed for adjuvant therapy in place of chemotherapy in RGNT relapse.

PMID:34069450 | PMC:PMC8159123 | DOI:10.3390/diagnostics11050903

Management of Intracranial Haemangiopericytomas

Fetched: June 3rd, 2021, 5:01am GMT by Noman Ahmad

J Pak Med Assoc. 2021 Mar;71(3):1041-1042.

ABSTRACT

Haemangiopericytomas are rare tumours, commonly mistaken as meningiomas on radiology. These tumours are considered malignant and treatment involves aggressive surgery, followed by adjuvant radiation therapy, and close radiological and clinical follow ups. Herein the authors have reviewed the recent literature on the management of these tumours.

PMID:34057975

Permalink for 'Do Multiple Brain Lesions Always Connote Worse Outcomes? Appraisal Evidence from a Tertiary Care Center in Koshi/Purbanchal Province of Nepal'

Do Multiple Brain Lesions Always Connote Worse Outcomes? Appraisal Evidence from a Tertiary Care Center in Koshi/Purbanchal Province of Nepal

Fetched: June 2nd, 2021, 5:01am GMT by Sangam Shrestha

Adv Exp Med Biol. 2021 Jun 2. doi: 10.1007/5584_2021_642. Online ahead of print.

ABSTRACT

Advances in medicine comprising diverse diagnostic and management modalities call for a bundle approach to improve patient care. This study aimed to present diagnostic patterns in patients with multiple intracranial lesions together with connoted survival implications. We retrospectively reviewed medical files of 85 patients with tumor and non-tumor intracranial lesions. Metastatic brain lesions were identified in 23.5% of patients. Neurological pathogenesis underlay 29.4%, infectious 21.2%, and vascular 14.1% of lesions, with the remaining portion comprising less frequent disorders. A favorable prognosis was predicted in 52/85 (61.2%) of the study population despite a variety of pathologies, which speaks for substantial improvements in outcomes of once hardly manageable or mortal brain disorders, comprising both common and rare conditions. The improvements are to the credit of advances in medical radio-imaging enhancing the diagnostic power which enables a precise stratification of brain pathologies. We emphasize the use of an algorithmic evaluation of patients presenting with multiple brain lesions for differential diagnosis and survival prognostication. There seems to be an ongoing transition from imperfect probabilistic prediction models to precision medicine, which determines advantages in disease management and outcome.

PMID:34061333 | DOI:10.1007/5584_2021_642

Clivus pathologies from diagnosis to surgical multidisciplinary treatment. Review of the literature

Fetched: June 2nd, 2021, 5:01am GMT by Fabio Pagella

Acta Otorhinolaryngol Ital. 2021 Apr;41(Suppl. 1):S42-S50. doi: 10.14639/0392-100X-suppl.1-41-2021-04.

NO ABSTRACT

PMID:34060519 | PMC:PMC8172112 | DOI:10.14639/0392-100X-suppl.1-41-2021-04

Clear cell renal cancer metastasis in the contralateral ureter: a case report

Fetched: June 2nd, 2021, 5:01am GMT by Julien Blanc

J Med Case Rep. 2021 May 30;15(1):309. doi: 10.1186/s13256-021-02839-w.

ABSTRACT

BACKGROUND: Clear cell renal carcinoma is known for its propensity for metastatic spread. Common sites of metastasis are the lungs, bones, lymph nodes, liver, adrenals and brain, but all organs can be affected. Contralateral ureteral metastasis is a rare phenomenon, and only a few cases have been reported in the literature.

CASE PRESENTATION: We present the case of a 58-year-old Caucasian patient with a single contralateral ureteral metastasis of a clear cell renal carcinoma.

CONCLUSION: Ureteral metastasis of clear cell renal carcinoma is very rare, and there is no well-established treatment. For patients with low metastatic spread/volume, the aim should be to preserve kidney function, and thus metastasectomy should be considered.

PMID:34051835 | PMC:PMC8164811 | DOI:10.1186/s13256-021-02839-w

Permalink for 'Mesenchymal Epithelial Transition Factor Signaling in Pediatric Nervous System Tumors: Implications for Malignancy and Cancer Stem Cell Enrichment'

Mesenchymal Epithelial Transition Factor Signaling in Pediatric Nervous System Tumors: Implications for Malignancy and Cancer Stem Cell Enrichment

Fetched: June 1st, 2021, 5:01am GMT by Amanda Rose Khater

Front Cell Dev Biol. 2021 May 13;9:654103. doi: 10.3389/fcell.2021.654103. eCollection 2021.

ABSTRACT

Malignant nervous system cancers in children are the most devastating and worrisome diseases, specifically due to their aggressive nature and, in some cases, inoperable location in critical regions of the brain and spinal cord, and the impermeable blood-brain barrier that hinders delivery of pharmaco-therapeutic compounds into the tumor site. Moreover, the delicate developmental processes of the nervous system throughout the childhood years adds another limitation to the therapeutic modalities and doses used to treat these malignant cancers. Therefore, pediatric oncologists are charged with the daunting responsibility of attempting to deliver effective cures to these children, yet with limited doses of the currently available therapeutic options in order to mitigate the imminent neurotoxicity of radio- and chemotherapy on the developing nervous system. Various studies reported that c-Met/HGF signaling is affiliated with increased malignancy and stem cell enrichment in various cancers such as high-grade gliomas, high-risk medulloblastomas, and MYCN-amplified, high-risk neuroblastomas. Therapeutic interventions that are utilized to target c-Met signaling in these malignant nervous system cancers have shown benefits in basic translational studies and preclinical trials, but failed to yield significant clinical benefits in patients. While numerous pre-clinical data reported promising results with the use of combinatorial therapy that targets c-Met with other tumorigenic pathways, therapeutic resistance remains a problem, and long-term cures are rare. The possible mechanisms, including the overexpression and activation of compensatory tumorigenic mechanisms within the tumors or ineffective drug delivery methods that may contribute to therapeutic resistance observed in clinical trials are elaborated in this review.

PMID:34055785 | PMC:PMC8155369 | DOI:10.3389/fcell.2021.654103

A case series of extraneural metastatic glioblastoma at Memorial Sloan Kettering Cancer Center

Fetched: June 1st, 2021, 5:01am GMT by Evan K Noch

Neurooncol Pract. 2021 Feb 3;8(3):325-336. doi: 10.1093/nop/npaa083. eCollection 2021 Jun.

ABSTRACT

BACKGROUND: Extraneural metastasis of glioma is a rare event, often occurring in patients with advanced disease. Genomic alterations associated with extraneural glioma metastasis remain incompletely understood.

METHODS: Ten patients at Memorial Sloan Kettering Cancer Center diagnosed with extraneural metastases of glioblastoma (9 patients) and gliosarcoma (1 patient) from 2003 to 2018 were included in our analysis. Patient characteristics, clinical course, and genomic alterations were evaluated.

RESULTS: Patient age at diagnosis ranged from 14 to 73, with 7 men and 3 women in this group. The median overall survival from initial diagnosis and from diagnosis of extraneural metastasis was 19.6 months (range 11.2 to 57.5 months) and 5 months (range 1 to 16.1 months), respectively. The most common site of extraneural metastasis was bone, with other sites being lymph nodes, dura, liver, lung, and soft tissues. All patients received surgical resection and radiation, and 9 patients received temozolomide, with subsequent chemotherapy appropriate for individual cases. 1 patient had an Ommaya and then ventriculoperitoneal shunt placed, and 1 patient underwent craniectomy for cerebral edema associated with a brain abscess at the initial site of resection. Genomic analysis of primary tumors and metastatic sites revealed shared and private mutations with a preponderance of tumor suppressor gene alterations, illustrating clonal evolution in extraneural metastases.

CONCLUSIONS: Several risk factors emerged for extraneural metastasis of glioblastoma and gliosarcoma, including sarcomatous dedifferentiation, disruption of normal anatomic barriers during surgical resection, and tumor suppressor gene alterations. Next steps with this work include validation of these genomic markers of glioblastoma metastases in larger patient populations and the development of preclinical models. This work will lead to a better understanding of the molecular mechanisms of metastasis to develop targeted treatments for these patients.

PMID:34055380 | PMC:PMC8153825 | DOI:10.1093/nop/npaa083

Pembrolizumab-Induced Isolated Cranial Neuropathy: A Rare Case Report and Review of Literature

Fetched: May 29th, 2021, 5:01am GMT by Francesco Bruno

Front Neurol. 2021 May 11;12:669493. doi: 10.3389/fneur.2021.669493. eCollection 2021.

ABSTRACT

Introduction: Anti-PD1 agents are widely used in the treatment of solid tumors. This has prompted the recognition of a class of immune-related adverse events (irAEs), due to the activation of autoimmune T-cells. Pembrolizumab is an anti-PD1 agent, which has been related to an increased risk of various neurological irAE (n-irAEs). Here, we present a rare case of pembrolizumab-induced neuropathy of cranial nerves. Case Report: A 72-year-old patient was diagnosed with a lung adenocarcinoma in February 2018 (EGFR-, ALK-, and PDL1 90%). According to the molecular profile, pembrolizumab was started. After three administrations, the patient developed facial paresis, ptosis, ophthalmoplegia, and dysphonia. As brain metastases and paraneoplastic markers were excluded, a drug-related disorder was suspected and pembrolizumab was discontinued. A nerve conduction study and electromyography excluded signs of neuropathy and myopathy at four limbs, and repetitive nerve stimulation was negative. However, altered blink reflex and nerve facial conduction were consistent with an acute neuropathy of the cranial district. Thus, the patient was treated with two cycles of intravenous immunoglobulins (IVIg), which rapidly allowed improvement of both symptoms and neurophysiological parameters. However, the patient died in October 2018 for a progression of lung tumor. Discussion: Only 16 cases of pembrolizumab-related neuropathies have been described so far. Our case is of particular interest for the isolated involvement of cranial nerves and the prompt response to IVIg. Conclusion: N-irAEs are insidious conditions that require solid knowledge of onco-immunotherapy complications: it is mandatory not to delay any treatment that would potentially modify the course of a neurological complication.

PMID:34046006 | PMC:PMC8144636 | DOI:10.3389/fneur.2021.669493

Permalink for 'Publisher Correction to: C11orf95-RELA fusion drives aberrant gene expression through the unique epigenetic regulation for ependymoma formation'

Publisher Correction to: C11orf95-RELA fusion drives aberrant gene expression through the unique epigenetic regulation for ependymoma formation

Fetched: May 29th, 2021, 5:01am GMT by Tatsuya Ozawa

Acta Neuropathol Commun. 2021 May 27;9(1):100. doi: 10.1186/s40478-021-01157-y.

NO ABSTRACT

PMID:34044883 | PMC:PMC8157639 | DOI:10.1186/s40478-021-01157-y

Permalink for 'Clinical Characteristics and Overall Survival Prognostic Nomogram for Oligodendroglioma: A Surveillance, Epidemiology, and End Results Population-Based Analysis'

Clinical Characteristics and Overall Survival Prognostic Nomogram for Oligodendroglioma: A Surveillance, Epidemiology, and End Results Population-Based Analysis

Fetched: May 29th, 2021, 5:01am GMT by Liang Cao

World Neurosurg. 2021 May 5:S1878-8750(21)00665-3. doi: 10.1016/j.wneu.2021.04.122. Online ahead of print.

ABSTRACT

OBJECTIVE: Oligodendroglioma is a rare primary malignant brain tumor that has highly variable clinical outcomes. The aim of this study was to investigate demographics, outcomes, and prognostic factors of all oligodendroglioma cases from the Surveillance, Epidemiology, and End Results database to build a clinical prognosis model to predict survival time of patients with oligodendroglioma.

METHODS: Cases diagnosed between 1975 and 2016 were selected from the Surveillance, Epidemiology, and End Results database. Age, sex, race, insurance, year of diagnosis, marital status, tumor location, tumor size, summary stage, surgery method, and use of radiotherapy and chemotherapy were evaluated with respect to overall survival by univariate and multivariate analysis. A nomogram predicting 5- and 10-year survival probability for oligodendroglioma was constructed and validated.

RESULTS: After data cleaning, 4568 patients with oligodendroglioma were included. At the time of last follow-up, mean survival times among grade II and grade III oligodendrogliomas were 74 and 39 months, respectively. In multivariate analysis, radiotherapy, age, tumor site, summary stage, and surgery demonstrated independent associations with survival in both cohorts. Race and radiotherapy demonstrated independent associations with survival in grade II oligodendroglioma. Sex and chemotherapy demonstrated independent associations with survival in grade III oligodendroglioma. Independent factors in either cohort were selected to build a clinical nomogram. The C-index for the nomogram was 0.738 (95% confidence interval 0.718-0.757). The calibration curves of 5- and 10-year survival rates showed good agreement between the nomogram predictions and actual observations.

CONCLUSIONS: This study was the first to develop a nomogram for predicting overall survival of patients with oligodendroglioma to help clinicians predict patient prognosis accurately and conduct further treatment.

PMID:33964496 | DOI:10.1016/j.wneu.2021.04.122

Intraosseous metastasis of K27-mutant glioma

Fetched: May 28th, 2021, 5:01am GMT by M V Ryzhova

Arkh Patol. 2021;83(3):40-44. doi: 10.17116/patol20218303140.

ABSTRACT

Glioma metastasis outside the central nervous system is a quite rare phenomenon. The disease in a young woman manifested itself as back pain and loss of vision in the left eye. Magnetic resonance imaging (MRI) revealed a tumor of the optic nerve; positron emission tomography showed multiple secondary bone changes. At the same time, MRI detected no signs of neoplasm in the midline brain structures (the brain stem and subcortical nuclei) and spinal cord. Two biopsies (superior iliac spine trephine biopsy and optic nerve tumor biopsy) were performed. There were similar histological tumors; the optic nerve tumor was found to have K27M mutation in the H3F3A gene, whereas the metastatic tumor lacked this mutation (possibly due to the quality and quantity of DNA isolated from the tumor cells). The interesting features of this case are the simultaneous detection of primary and metastatic tumors before receiving any treatment and the absence of the K27M mutation in the H3F3A gene in the metastasis.

PMID:34041895 | DOI:10.17116/patol20218303140

Integrative molecular characterization of pediatric spinal ependymoma: the UK Children's Cancer and Leukaemia Group study

Fetched: May 28th, 2021, 5:01am GMT by Omar Ahmad

Neurooncol Adv. 2021 Mar 8;3(1):vdab043. doi: 10.1093/noajnl/vdab043. eCollection 2021 Jan-Dec.

ABSTRACT

BACKGROUND: Pediatric spinal ependymomas (SP-EPNs) are rare primary central nervous system tumors with heterogeneous clinical course. Considering that ependymomas in children are biologically distinct from their adult counterparts, this study aimed to define the molecular landscape of SP-EPNs in children.

METHODS: In this retrospective study, we have collected tumor samples from 27 SP-EPN patients younger than 18 years and carried out the histological review, DNA methylation, and gene expression profiling.

RESULTS: Unsupervised analyses with methylation profiles revealed 2 subgroups where all grade I tumors (n = 11) were in Group 1, but the grade II/III tumors split into 2 groups (n = 7 in Group 1 and n = 9 in Group 2). The Heidelberg classifier assigned Group 1 tumors as spinal myxopapillary ependymomas (SP-MPEs), 5 Group 2 tumors as SP-EPNs, and failed to classify 4 Group 2 tumors. Copy numbers derived from DNA methylation arrays revealed subgroup-specific genetic alterations and showed that SP-EPN tumors lack MYCN amplification. Gene expression profiling revealed distinct transcriptomic signatures, including overexpression of genes involved in oxidative phosphorylation in SP-MPEs that were validated by Western blot analysis. We discovered widespread decreases in DNA methylation at enhancer regions that are associated with the expression of oncogenic signaling pathways in SP-MPEs. Furthermore, transcription factor motifs for master regulators, including HNF1B, PAX3, and ZIC3, were significantly overrepresented in probes specific to distal regulatory regions in SP-MPEs.

CONCLUSION: Our findings show substantial heterogeneity in pediatric SP-EPN and uncover novel enhancers and transcriptional pathways specific to the SP-MPE subgroup, providing a foundation for future therapeutic strategies.

PMID:34041479 | PMC:PMC8134525 | DOI:10.1093/noajnl/vdab043

Permalink for 'Occurrence of Chordoid Glioma With Sodium Ion Metabolism Disorder 5 Years After Meningioma Surgery and Whole-Exome Sequencing: A Case Report and Literature Review'

Occurrence of Chordoid Glioma With Sodium Ion Metabolism Disorder 5 Years After Meningioma Surgery and Whole-Exome Sequencing: A Case Report and Literature Review

Fetched: May 28th, 2021, 5:01am GMT by Mei Zhang

Front Genet. 2021 May 10;12:617575. doi: 10.3389/fgene.2021.617575. eCollection 2021.

ABSTRACT

Chordoid glioma (CG), a rare slow-growing brain tumor, mainly occurs in the region of the third ventricle. Although its degree of malignancy is relatively low, its clinical prognosis is poor due to obscure clinical manifestations and the particular growing position. Currently, gross total resection is the best available method for treatment of CG. However, the tumor is located in the deep structure of the brain and close to neurovascular structure so it is difficult to remove completely. This study reported a case of CG of the third ventricle 5 years after surgery of right frontal parietal fibrous meningioma, accompanied with peri and post-operative sodium ion metabolism disorder. Whole-exome sequencing (WES) revealed 25 gene mutations shared by meningioma and CG. In addition, the PRKCA ^D463H CG marker gene mutation also existed in this patient. We reviewed the latest literature on this rare brain tumor, summarized its clinical manifestations, imaging and pathological characteristics, and discussed the mechanism related to its occurrence and the reasons for sodium ion disorder.

PMID:34040630 | PMC:PMC8143433 | DOI:10.3389/fgene.2021.617575

Non-functioning pituitary adenomas and pregnancy: one-center experience and review of the literature

Fetched: May 28th, 2021, 5:01am GMT by Josefina Rosmino

Arch Endocrinol Metab. 2021 May 18;64(5):614-622. doi: 10.20945/2359-3997000000232.

ABSTRACT

The usual clinical presentation of non-functioning pituitary adenoma (NFPA) consists of symptoms of mass effect and hypopituitarism. NFPA is a rare condition in young women and an uncommon complication during pregnancy. We present the outcome of three patients with NFPA during pregnancy. Case 1: a 38-year-old woman was referred at 32^nd week of spontaneous pregnancy because of diagnosis of a pituitary macroadenoma discovered in the context of progressive visual loss. Hormonal deficiency and hypersecretion were ruled out. Prolactin levels were high as expected. She developed diplopia and severe headache despite the use of dopamine agonists and corticosteroids, so pregnancy was interrupted at 34^th week. After an uncomplicated delivery of a healthy newborn, transsphenoidal surgery was performed. The pathology was consistent with a gonadotroph adenoma. She recovered visual field, and remained with normal pituitary function. Postsurgical tumor remnant increased in size during the follow-up. Case 2: a 34-year-old woman was referred due to secondary amenorrhea and galactorrhea. A macroadenoma with suprasellar extension was discovered. Transsphenoidal surgery confirmed a gonadotroph adenoma. Two years after surgery she had a normal pregnancy. Six years after surgery a small tumor recurrence occurred. Case 3: a 23-year-old woman was referred due to a microincidental pituitary adenoma. Laboratory testing was normal. No findings on physical examination. A wait and see approach was decided. Two years after diagnosis, the patient got pregnant without complications. Image remained stable. This article may contribute new cases and provides an extensive review of NFPA during pregnancy.

PMID:34033303 | DOI:10.20945/2359-3997000000232

Primary leptomeningeal melanoma: the prognostic significance of its genetic signature and embryological origin

Fetched: May 28th, 2021, 5:01am GMT by Ali Buckland

BMJ Case Rep. 2021 May 24;14(5):e239496. doi: 10.1136/bcr-2020-239496.

ABSTRACT

Primary leptomeningeal melanomas are rare, comprising less than one percent of all brain tumours. They are aggressive and radioresistant tumours, with a poor prognosis. The mainstay of treatment is complete surgical resection and chemotherapy with limited success. Distinguishing a primary leptomeningeal melanoma from the more common metastatic disease can be difficult, and often requires the use of ancillary molecular testing. Primary central nervous system melanomas, including uveal melanomas, frequently exhibit mutations in GNAQ and GNA11, rare in the cutaneous and mucosal counterparts.A case of a primary leptomeningeal melanoma of the cerebellopontine angle is described. Molecular studies identified a GNA11 p.Q209L and a KIT p.M541L missense variant, with losses of chromosomes 1p and 3p demonstrated with cytogenetic studies. Complete surgical resection was not possible and leptomeningeal metastatic disease rapidly ensued despite immunotherapy. Further understanding of the molecular signature may translate to improved diagnosis, prognostication and development of targeted therapies.

PMID:34031065 | PMC:PMC8154691 | DOI:10.1136/bcr-2020-239496

Primary hypothalamic lymphoma with clinical findings mimicking pituitary apoplexy: a case report

Fetched: May 28th, 2021, 5:01am GMT by Mehmet Sözen

J Med Case Rep. 2021 May 25;15(1):293. doi: 10.1186/s13256-021-02866-7.

ABSTRACT

BACKGROUND: Primary central nervous system lymphoma (PCNSL) is a rare but well-known extra-nodal lymphoma, which usually presents with non-Hodgkin B-cell lymphomas. PCNSL is generally located around the ventricle and is often detected as multiple lesions. It is rarely seen in the area of the hypothalamus.

CASE PRESENTATION: We report the case of a 48-year-old Caucasian woman with progressive short-term memory deterioration, headache, mental confusion, diabetes insipidus (DI) and hypopituitarism. Early findings were suggestive of a pituitary apoplexy. The results of tests performed during the initial admission at the tertiary health center revealed hypernatremia, hypopituitarism and DI. Intravenous hydrocortisone treatment was initiated for the secondary adrenal insufficiency, and 75 mcg/day of levothyroxine was started for the secondary hypothyroidism on the fourth day following hydrocortisone treatment. A daily dose of 120 mg desmopressin melt tablet was started twice a day for polyuria/polydipsia after the patient's volume status was balanced. A brain magnetic resonance imaging scan revealed a mass lesion in the hypothalamic area, which was surrounded by marked edema. Anti-edema treatment was initially started considering the suggestion by our neurosurgery team. The patient's clinical and laboratory findings improved after the initiation of the anti-edema therapy. Afterwards, a biopsy was performed, which diagnosed a malignant diffuse large B-cell lymphoma. Subsequently, intravenous high-dose methotrexate-based therapy was started; however, after the second cycle of chemotherapy, the patient died due to sepsis.

CONCLUSION: In this report, we present a case of hypopituitarism that developed due to the mass effect of hypothalamic lymphoma with clinical findings of pituitary apoplexy. Intracranial masses may cause obvious endocrinological findings related to hypopituitarism, while vague findings may also be observed due to partial failure. Therefore, it is important to perform a comprehensive endocrinological examination at the time of diagnosis in patients with intracranial masses.

PMID:34030739 | PMC:PMC8145818 | DOI:10.1186/s13256-021-02866-7

Primary vitreoretinal lymphoma: A diagnostic and management challenge

Fetched: May 27th, 2021, 5:01am GMT by Carole Soussain

Blood. 2021 May 25:blood.2020008235. doi: 10.1182/blood.2020008235. Online ahead of print.

ABSTRACT

Primary vitreoretinal lymphoma (PVRL) is a rare form of primary central nervous system lymphoma (PCNSL) arising in the intraocular compartment without brain involvement. Despite its apparent indolent clinical course, PVRL can cause permanent vision loss and CNS relapse, the major cause of death in PVRL patients. The pathophysiology of PVRL is unknown. As in PCNSL, the transformation of the tumor cells likely originates outside the CNS, before the cells migrate to the eye and proliferate within an immune-permissive microenvironment. PVRL exhibits a biased immunoglobulin repertoire, suggesting underlying antigen selection. The diagnosis remains challenging, requiring close coordination between ophthalmologists and cytologists. Because of their rarity and fragility in the vitreous, lymphoma cells cannot always be identified. Interleukin levels, molecular biology and imaging are used in combination with clinical ophthalmological examination to support the diagnosis of PVRL. Multi-institutional prospective studies are urgently needed to validate the equivocal conclusions regarding treatments drawn from heterogeneous retrospective or small cohort studies. Intravitreal injections of methotrexate or rituximab or local radiotherapy are effective at clearing tumor cells within the eyes but do not prevent CNS relapse. Systemic treatment based on high-dose methotrexate chemotherapy, with or without local treatment, might reduce this risk. At relapse, intensive consolidation chemotherapy followed by stem cell transplantation can be considered. Single-agent ibrutinib, lenalidomide and temozolomide treatments are effective in patients with relapsed PVRL and should be tested as first-line treatments. Therapeutic response assessment based on a clinical examination is improved by measuring cytokine levels but still needs to be refined.

PMID:34036310 | DOI:10.1182/blood.2020008235

Single cell characterization of the immune microenvironment of melanoma brain and leptomeningeal metastases

Fetched: May 27th, 2021, 5:01am GMT by Inna Smalley

Clin Cancer Res. 2021 May 25. doi: 10.1158/1078-0432.CCR-21-1694. Online ahead of print.

ABSTRACT

PURPOSE: Melanoma brain metastases (MBM) and leptomeningeal melanoma metastases (LMM) are two different manifestations of melanoma CNS metastasis. Here, we used single-cell RNA sequencing (scRNA-seq) to define the immune landscape of MBM, LMM, and melanoma skin metastases.

EXPERIMENTAL DESIGN: scRNA-seq was undertaken on 43 patient specimens, including 8 skin metastases, 14 MBM, and 19 serial LMM specimens. Detailed cell type curation was performed, the immune landscapes were mapped, and key results were validated by IHC and flow cytometry. Association analyses were undertaken to identify immune cell subsets correlated with overall survival.

RESULTS: The LMM microenvironment was characterized by an immune-suppressed T-cell landscape distinct from that of brain and skin metastases. An LMM patient with long-term survival demonstrated an immune repertoire distinct from that of poor survivors and more similar to normal cerebrospinal fluid (CSF). Upon response to PD-1 therapy, this extreme responder showed increased levels of T cells and dendritic cells in their CSF, whereas poor survivors showed little improvement in their T-cell responses. In MBM patients, therapy led to increased immune infiltrate, with similar T-cell transcriptional diversity noted between skin metastases and MBM. A correlation analysis across the entire immune landscape identified the presence of a rare population of dendritic cells (DC3) that was associated with increased overall survival and positively regulated the immune environment through modulation of activated T cells and MHC expression.

CONCLUSIONS: Our study provides the first atlas of two distinct sites of melanoma CNS metastases and defines the immune cell landscape that underlies the biology of this devastating disease.

PMID:34035069 | DOI:10.1158/1078-0432.CCR-21-1694

Permalink for 'Metastatic renal cell carcinoma to pancreas and gastrointestinal tract: a clinicopathological study of 3 cases and review of literature'

Metastatic renal cell carcinoma to pancreas and gastrointestinal tract: a clinicopathological study of 3 cases and review of literature

Fetched: May 27th, 2021, 5:01am GMT by Jamshid Abdul-Ghafar

BMC Urol. 2021 May 25;21(1):84. doi: 10.1186/s12894-021-00854-z.

ABSTRACT

BACKGROUND: Renal Cell Carcinoma (RCC) metastasizes in approximately 20-30% cases. The most common sites for metastases are the lungs, bones, liver, and brain. Metastases of RCC in the gastrointestinal tract (GIT) are very rare. Metastatic RCC has a poor prognosis. We herein present a case series of three patients with metastatic disease in the colon, duodenum, and pancreas following complete resection of RCC.

METHODS: Hematoxylin and Eosin and immunohistochemical slides of 3 cases of RCC metastatic to GIT were reviewed. These cases were diagnosed between 2002 and 2019 at French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan, and Aga Khan University Hospital (AKUH), Karachi, Pakistan. We also present a detailed review of published literature.

RESULTS: We reviewed cases of three patients, two females and one male, with a mean age of 57.3 years (range 40-67 years) who underwent nephrectomy for RCC. They developed metastases in the colon, pancreas, and duodenum, respectively 12-168 months (median time 156 months) following primary tumor resection. The patient with metastatic RCC in colon presented with abdominal pain and constipation. An ulcerated mass was found on colonoscopy 30 cm from the anal verge. Diagnosis of RCC with rhabdoid features was confirmed in both primary and metastatic tumors. The second patient developed a metastatic nodule in the head of pancreatic while the third patient developed metastatic nodules in the duodenum and pancreas which were detected by Computed Tomography (CT) scanning. Histopathological examination confirmed the presence of clear cell RCC in the metastatic nodules in both cases.

CONCLUSION: Metastatic RCC should be considered in the differential diagnosis of mass in the gastrointestinal (including pancreaticobiliary) tract especially in presence of a past history of RCC. These patients should be screened thoroughly by physical examination and appropriate imaging studies.

PMID:34034720 | PMC:PMC8145803 | DOI:10.1186/s12894-021-00854-z

Glioneuronal Tumors: Insights into a Rare Tumor Entity

Fetched: May 27th, 2021, 5:01am GMT by Andra Valentina Krauze

In: Debinski W, editor. Gliomas [Internet]. Brisbane (AU): Exon Publications; 2021 Apr 30. Chapter 13.

ABSTRACT

Glioneuronal tumors are a group of rare neoplasms made up of neural and glial components in heterogenous proportions, generally exhibiting WHO grade I clinical behavior. These tumors affect infants, children and young adults, but are also described in adults and the elderly. They are strongly associated with seizures. Tumor subtypes described under the umbrella of glioneuronal tumors are actively evolving but to date comprise central, extraventricular and lipo- neurocytoma, desmoplastic infantile astrocytoma and ganglioglioma, diffuse leptomeningeal glioneuronal tumor, dysembryoplastic neuroepithelial tumor, papillary glioneuronal tumor, rosette-forming glioneuronal tumor of the fourth ventricle, rosetted glioneuronal tumor with neuropil-like islands, gangliocytoma, ganglioglioma, anaplastic ganglioglioma and paraganglioma. They vary in radiographic appearance, with some exhibiting large heterogenous solid/cystic masses. With large scale genetic and molecular analyses ongoing, classification continues to evolve. Seizure management and surgical resection represent the cornerstones of management, with the use of systemic agents and radiation lacking conclusive results. Optimal management requires multidisciplinary discussion including neuro-oncological and neuro-surgical expertise due to both the rarity of these tumors and the lack of evidence with data confined to small retrospective series and reviews.

PMID:34038055 | Bookshelf:NBK570710 | DOI:10.36255/exonpublications.gliomas.2021.chapter13

Permalink for 'Fulminant Disseminating Fatal Granulomatous Amebic Encephalitis: The First Case Report in an Immunocompetent Patient in South Korea'

Fulminant Disseminating Fatal Granulomatous Amebic Encephalitis: The First Case Report in an Immunocompetent Patient in South Korea

Fetched: May 26th, 2021, 5:01am GMT by Ju Yeon Lee

Yonsei Med J. 2021 Jun;62(6):563-567. doi: 10.3349/ymj.2021.62.6.563.

ABSTRACT

Central nervous system infections caused by free-living amoeba are very rare, but often fatal. The typical image findings of amebic meningoencephalitis are non-specific, showing ring-like enhancement. We report the first case of fulminant disseminating fatal granulomatous amebic encephalitis caused by Balamuthia mandrillaris in an immunocompetent patient in South Korea. Our case exhibited two interesting features: one was the unusual clinical course and the other was additional image findings. Magnetic resonance imaging revealed a rim-enhancing lesion with intralesional blooming dark signal intensity on susceptibility weighted imaging and low signal intensity on diffusion weighted images and on apparent diffusion coefficient maps. Differential diagnosis was started from a tumor or non-tumorous lesion, and diagnosis was difficult due to the rarity of the disease. Following the clinical and diagnostic courses of our case, we recommend inspecting image findings of granulomatous amebic encephalitis for early diagnosis.

PMID:34027644 | PMC:PMC8149926 | DOI:10.3349/ymj.2021.62.6.563

Choroid plexus carcinoma with leptomeningeal spread in an adult: a case report and review of the literature

Fetched: May 26th, 2021, 5:01am GMT by In Young Jo

J Med Case Rep. 2021 May 23;15(1):286. doi: 10.1186/s13256-021-02887-2.

ABSTRACT

BACKGROUND: Choroid plexus carcinoma is an intraventricular neoplasm originating from the choroid plexus epithelium and is of rare occurrence in adults. However, owing to the low prevalence of choroid plexus carcinoma, there is very limited information about the disease entity and treatment. Here we report a rare case of choroid plexus carcinoma in an adult patient.

CASE PRESENTATION: A 46-year-old South Korean (East Asian) male presented with low back pain, headache, and diplopia. Magnetic resonance imaging demonstrated enhancing mass lesion in the left trigone, cerebellar with leptomeningeal spread. Surgery was performed via left parietal craniotomy, and the lesion was histologically confirmed to be choroid plexus carcinoma. The patient received adjuvant craniospinal irradiation for remnant mass and leptomeningeal spread. Magnetic resonance imaging performed immediately after completion of the treatment revealed a partial decrease in the size of the tumor. However, the patient expired died as a result of acute respiratory distress syndrome before follow-up of long-term outcome.

CONCLUSION: Choroid plexus carcinoma with leptomeningeal spread in adults is very important for rapid diagnosis and treatment. In the case of the presence of leptomeningeal spread, craniospinal irradiation can be considered as a treatment method, but may have serious complications. Hence, the technique should be applied with care.

PMID:34022951 | PMC:PMC8141193 | DOI:10.1186/s13256-021-02887-2

Cyclin D1 expression in ganglioglioma, pleomorphic xanthoastrocytoma and pilocytic astrocytoma

Fetched: May 24th, 2021, 5:01am GMT by Fabien Forest

Exp Mol Pathol. 2021 May 19;121:104652. doi: 10.1016/j.yexmp.2021.104652. Online ahead of print.

ABSTRACT

Ganglioglioma, pleomorphic xanthoastrocytoma (PXA) and pilocytic astrocytoma are rare brain neoplasms with frequent activation of mitogen-activated protein (MAP) kinase pathway. A downstream marker of MAP-kinase pathway activation is cyclin D1. However, the expression of cyclin D1 has not been studied in the differential diagnosis between these brain tumors. The aim of this work is to compare the expression of cyclin D1 in ganglioglioma, PXA, pilocytic astrocytoma. We also compared cyclin D1 expression in giant cell glioblastoma and in IDH wild type glioblastoma. Our work shows that roughly half of gangliogliomas have ganglion cells stained by cyclin D1 while two third of PXA have pleormophic cells stained by cyclin D1 and 15% of giant cell glioblastoma have pleomorphic cells stained by cyclin D1 (p < 0.001). Cyclin D1 never stains normal neurons either in the adjacent cortex of circumscribed tumor, or in entrapped neurons in IDH wild type glioblastomas. The expression of cyclin D1 is correlated to the presence of BRAF V600E mutation in ganglioglioma and PXA (p = 0.002). To conclude, cyclin D1 positivity might be used to confirm the neoplastic nature of ganglion cells. Cyclin D1 is expressed in most cases of BRAF V600E mutated gangliogliomas but also in cases without BRAF mutations suggesting an activation of MAP-kinase pathway through another way. Cyclin D1 immunohistochemistry has currently no or little role in the differential diagnosis of pilocytic astrocytoma. Its role in the differential diagnosis between PXA and giant cell glioblastoma needs to be further investigated on external series.

PMID:34022185 | DOI:10.1016/j.yexmp.2021.104652

The rosette-forming glioneuronal tumor mimicked cerebral cysticercosis: a case report

Fetched: May 22nd, 2021, 5:01am GMT by Dan Zhu

Neurol Sci. 2021 May 20. doi: 10.1007/s10072-021-05199-x. Online ahead of print.

ABSTRACT

INTRODUCTION: Rosette-forming glioneuronal tumor (RGNT) is a rare variety of slow growing mixed glioneuronal tumor involving primarily fourth ventricular region. This is a comprehensive analysis of a 22-year-old woman with RGNT composed of mainly cystic components. In addition, the case showed multiple lesions located in brain parenchyma which mimicked cerebral cysticercosis. Here, we analyzed this case and listed some characteristics of RGNTs in reported literature which occurring in atypical locations for further understanding it.

CASE REPORT: A 22-year-old woman presented with a history of transient dizziness, nausea, and vomiting. Magnetic resonance imaging (MRI) showed multiple cystic lesions in brain parenchyma and then the patient was diagnosed with cerebral cysticercosis possibility. Empirical anti-infective therapy in addition to a follow-up post 2 weeks of MRI examination showed the lesions unchanged. Finally, a biopsy of the right cerebellar hemisphere lesions verified RGNT.

CONCLUSION: RGNT is an uncommon tumor classified as grade I glioma by World Health Organization (WHO) with slightly longer course. The imaging findings of RGNT are not specific especially in atypical areas. RGNT is rare, but we should also consider the possibility in diagnosis and differential diagnosis.

PMID:34018072 | DOI:10.1007/s10072-021-05199-x

Lateral ventricular medulloepithelioma in children: a case report

Fetched: May 21st, 2021, 5:01am GMT by Hong You

Transl Pediatr. 2021 Apr;10(4):1020-1025. doi: 10.21037/tp-20-257.

ABSTRACT

Medulloepithelioma is an extremely rare highly malignant and rapidly growing tumor that occurs in the central nervous system. There are few reports of medulloepithelioma located in the ventricle. Medulloepithelioma is common in young children and adolescence. Herein, we described an unusual case of vomiting in a 4-year-old male patient with medulloepithelioma, presenting with enlarging head circumference. Because of computed tomography (CT) scan of the head showed signs of brain tumors and hydrocephalus, and enhanced magnetic resonance imaging (MRI) sequence showed increased heterogeneity and honeycomb-like changes on the mass after the administration of a contrast agent, the patient was first diagnosed as choroid plexus papilloma. After undergoing a surgical craniotomy, the patient was diagnosed as medulloepithelioma through pathological examination. We hope that this work will provide more understanding and knowledge of intracranial medulloepithelioma. For medulloepithelioma that occurs in the central nervous system, radiological examination is not sufficient to make a definite diagnosis of the tumor. Pathological examination can confirm the diagnosis of medulloepithelioma and distinguish it from other central system tumors. Surgical resection is a safe and effective method that can prolong the life of patients. However, the prognosis of medulloepithelioma is still poor, and further research is needed to improve the diagnosis and treatment of this rare disease.

PMID:34012850 | PMC:PMC8107848 | DOI:10.21037/tp-20-257

Permalink for 'A Direct Aspiration First Pass Technique for Basilar Artery Occlusion Caused by Elastic-hard Tumor Embolus via the Pulmonary Vein by Metastatic Prostate Adenocarcinoma: A Case Report'

A Direct Aspiration First Pass Technique for Basilar Artery Occlusion Caused by Elastic-hard Tumor Embolus via the Pulmonary Vein by Metastatic Prostate Adenocarcinoma: A Case Report

Fetched: May 21st, 2021, 5:01am GMT by Asaya Nishi

NMC Case Rep J. 2021 Apr 2;8(1):95-100. doi: 10.2176/nmccrj.cr.2020-0069. eCollection 2021 Apr.

ABSTRACT

Basilar artery occlusion (BAO) accounts for only 1% of all strokes, and cerebral infarction resulting from tumor emboli has been infrequently demonstrated; therefore, few reports described BAO due to tumor embolus and its treatment experience. We report here an 83-year-old man with an acute BAO caused by embolized lung tumor invading right pulmonary vein that was revealed as metastasis of prostate adenocarcinoma. The patient underwent rapid recanalization through acute thrombectomy with a direct aspiration first pass technique (ADAPT) with Penumbra catheter. Successful recanalization was achieved in reperfusion grade of thrombolysis in cerebral infarction (TICI) 2b, and the embolus revealed a highly elastic hard tumorous mass of which texture was too tough to be caught by stent retriever. Immunohistopathologic examination of the embolus revealed adenocaricinoma of the prostate. In spite of that the recanalization was obtained, the patient died of the brain stem infarction after 7 days from the onset. We experienced a rare case of acute BAO caused by embolized prostate cancer metastasizing lung and invading pulmonary vein. When we face to patients with lung tumor invading pulmonary vein, tumor embolus should have been strongly considered and aspiration thrombectomy may be safer and more effective for the condition because of the difficulty of predicting an embolus's texture before treatment.

PMID:34012757 | PMC:PMC8116921 | DOI:10.2176/nmccrj.cr.2020-0069

Type II Pleuropulmonary Blastoma in a 4 Month Old Infant with Negative Dicer1 Mutation on Next Generation Sequencing

Fetched: May 21st, 2021, 5:01am GMT by Lidvana Spahiu

Med Arch. 2021 Feb;75(1):61-65. doi: 10.5455/medarh.2021.75.61-65.

ABSTRACT

INTRODUCTION: Pleuropulmonary blastoma (PPB) is a rare, but aggressive tumor in the pediatric population. PPB is a dysontogenetic neoplasm of childhood that involves the lungs and/or pleura. Young relatives of children with PPB have an increased incidence of neoplasias and dysplasias. According to tumor tissue histopathology, PPB evolves from a cystic to solid state over time. PPBs can be sub-classified as type I (purely cystic), type II (having both cystic and solid elements), and type III (completely solid). Type II and type III tumors may be associated with metastasis, with the brain being the most common metastatic site. Due to the primitive nature of cells in the tumor mass, PPBs are very aggressive tumors that are resistant to therapy. The prognosis depends on the histopathology content and tumor type. Respiratory problems are the main complaint and diagnosis can be made only after additional examinations. Genetic relations through family members are associated with mutations in the DICER1 gene; between 60-80% of patients with PPBs are positive for DICER1 mutations. Mosaicism has also been reported.

AIM: The aim was to present a case of a 4 month-old infant with type II PPB, who had a negative result for DICER1 mutation in next generation sequencing. To detail the clinical presentation of this patient, we present radiographic and ultrasound findings and results of histopathological analysis, as well as genetic and scintigraphic findings and chemotherapy treatment.

CASE REPORT: Here we describe the genetic analysis of a patient with PPB who was negative for mutations in DICER1 and who had no relatives with disease. This patient underwent radical resection of the tumor and began therapy, but subsequently died after developing leukopenia and sepsis.

CONCLUSION: This case provides an example of a patient with PPB who was negative for DICER1 mutation upon genetic analysis and emphasizes the potential for disease that does not involve mutation of this gene.

PMID:34012202 | PMC:PMC8116104 | DOI:10.5455/medarh.2021.75.61-65

Stem-like cells drive NF1-associated MPNST functional heterogeneity and tumor progression

Fetched: May 20th, 2021, 5:01am GMT by Daochun Sun

Cell Stem Cell. 2021 May 11:S1934-5909(21)00187-9. doi: 10.1016/j.stem.2021.04.029. Online ahead of print.

ABSTRACT

NF1-associated malignant peripheral nerve sheath tumors (MPNSTs) are the major cause of mortality in neurofibromatosis. MPNSTs arise from benign peripheral nerve plexiform neurofibromas that originate in the embryonic neural crest cell lineage. Using reporter transgenes that label early neural crest lineage cells in multiple NF1 MPNST mouse models, we discover and characterize a rare MPNST cell population with stem-cell-like properties, including quiescence, that is essential for tumor initiation and relapse. Following isolation of these cells, we derive a cancer-stem-cell-specific gene expression signature that includes consensus embryonic neural crest genes and identify Nestin as a marker for the MPNST cell of origin. Combined targeting of cancer stem cells along with antimitotic chemotherapy yields effective tumor inhibition and prolongs survival. Enrichment of the cancer stem cell signature in cognate human tumors supports the generality and relevance of cancer stem cells to MPNST therapy development.

PMID:34010628 | DOI:10.1016/j.stem.2021.04.029

An atypical case of neurotoxoplasmosis in immunocompetent patient

Fetched: May 20th, 2021, 5:01am GMT by Karlla Danielle Ferreira Lima

Radiol Case Rep. 2021 May 1;16(7):1766-1769. doi: 10.1016/j.radcr.2021.04.013. eCollection 2021 Jul.

ABSTRACT

Toxoplasmosis is an infection caused by Toxoplasma gondii, an intracellular protozoan that is often associated with immunocompromised patients and is rare in immunocompetent. A 60-year-old man was admitted with a history of 2 days of headache and right-sided weakness. There was no history of fever, surgeries, or any other comorbid illness. Cerebrospinal fluid showed just mild pleocytosis with 15 cells/mm³, predominantly lymphomononuclear. MRI showed Peripheral enhancing lesion with central diffusion restriction and perivascular enhancing lesion with restricted diffusion with vasogenic edema and leptomeningeal enhancement in the white matter. Viral serologies, tumor markers, protein electrophoresis were normal. The patient was submitted to brain biopsy, revealing necrotic brain parenchyma with predominantly acute inflammation, with diffuse encephalitis pattern, and cysts with bradyzoites (cystozoites) of Toxoplasma gondii in the brain parenchyma. The central nervous system infection by Toxoplasma gondii can present as meningoencephalitis during primary infection in an immunocompetent, although it is rare. Central nervous system lymphoma is the main differential diagnosis of neurotoxoplasmosis by imaging, especially in our case.

PMID:34007399 | PMC:PMC8111245 | DOI:10.1016/j.radcr.2021.04.013

Optic pathway gliosarcoma: A very rare location for a rare disease

Fetched: May 20th, 2021, 5:01am GMT by Renato Masson de Almeida Prado

Radiol Case Rep. 2021 Apr 30;16(7):1665-1668. doi: 10.1016/j.radcr.2021.04.001. eCollection 2021 Jul.

ABSTRACT

Gliosarcoma, a variant of glioblastoma, is a rare and aggressive tumor of the central nervous system (CNS) composed of glial and sarcomatous tissues. Up to now, there are only 2 reported cases of gliosarcoma of the optical pathway. We report a case from March 2018 of a 53-year-old male patient presented with 6 months' of right fronto-orbital pulsatile headache, behavior changes, and visual loss. The MRI study showed an expansile optic pathway lesion involving the chiasm and right optic nerve. The diagnosis of gliosarcoma was obtained by open brain biopsy and immunohistochemical analysis. Although gliosarcoma is rare, it should be considered a differential diagnosis even in optic pathway tumors in older patients. The experience of the neuropathologist with a trained eye can be the differential in the accurate diagnostic process. Optic pathway, Gliosarcoma, Glioblastoma, Magnetic resonance imaging.

PMID:34007379 | PMC:PMC8111437 | DOI:10.1016/j.radcr.2021.04.001

Leptomeningeal metastasis from cervical cancer: Report of two cases and a review of the literature

Fetched: May 19th, 2021, 5:01am GMT by Makiko Omori

J Obstet Gynaecol Res. 2021 May 17. doi: 10.1111/jog.14825. Online ahead of print.

ABSTRACT

Leptomeningeal metastases from cervical cancer are extremely rare, with only 24 cases reported in the English-language literature. Leptomeningeal metastasis (LM) is usually a late event, but it can develop at any stage. A 44-year-old woman presented with vertigo, tinnitus, diminution of hearing, and a cervical tumor at the initial visit. She underwent whole brain radiotherapy and systemic chemotherapy. Five months after the initial visit, her condition deteriorated rapidly and she died. A 49-year-old woman underwent surgery and pelvic radiotherapy for cervical cancer. She underwent resection of lung metastases 2 years later and received systemic chemotherapy for lymph node metastases 4 years later. Five years after the initial visit, the patient suddenly presented with diplopia, headache, and vomiting; her clinical course was fulminant and she died. Most patients with LM present with diverse clinical manifestations and deteriorate rapidly despite multiple treatment modalities. Gynecologic oncologists should be aware of this rare complication.

PMID:34002430 | DOI:10.1111/jog.14825

Design considerations of an IL13Rα2 antibody-drug conjugate for diffuse intrinsic pontine glioma

Fetched: May 19th, 2021, 5:01am GMT by Xiaolei Lian

Acta Neuropathol Commun. 2021 May 17;9(1):88. doi: 10.1186/s40478-021-01184-9.

ABSTRACT

Diffuse intrinsic pontine glioma (DIPG), a rare pediatric brain tumor, afflicts approximately 350 new patients each year in the United States. DIPG is noted for its lethality, as fewer than 1% of patients survive to five years. Multiple clinical trials involving chemotherapy, radiotherapy, and/or targeted therapy have all failed to improve clinical outcomes. Recently, high-throughput sequencing of a cohort of DIPG samples identified potential therapeutic targets, including interleukin 13 receptor subunit alpha 2 (IL13Rα2) which was expressed in multiple tumor samples and comparably absent in normal brain tissue, identifying IL13Rα2 as a potential therapeutic target in DIPG. In this work, we investigated the role of IL13Rα2 signaling in progression and invasion of DIPG and viability of IL13Rα2 as a therapeutic target through the use of immunoconjugate agents. We discovered that IL13Rα2 stimulation via canonical ligands demonstrates minimal impact on both the cellular proliferation and cellular invasion of DIPG cells, suggesting IL13Rα2 signaling is non-essential for DIPG progression in vitro. However, exposure to an anti-IL13Rα2 antibody-drug conjugate demonstrated potent pharmacological response in DIPG cell models both in vitro and ex ovo in a manner strongly associated with IL13Rα2 expression, supporting the potential use of targeting IL13Rα2 as a DIPG therapy. However, the tested ADC was effective in most but not all cell models, thus selection of the optimal payload will be essential for clinical translation of an anti-IL13Rα2 ADC for DIPG.

PMID:34001278 | PMC:PMC8127302 | DOI:10.1186/s40478-021-01184-9

Brain Metastases from Esophageal Squamous Cell Carcinoma: Clinical Characteristics and Prognosis

Fetched: May 18th, 2021, 5:01am GMT by Linlin Xiao

Front Oncol. 2021 Apr 29;11:652509. doi: 10.3389/fonc.2021.652509. eCollection 2021.

ABSTRACT

PURPOSE: Due to the low incidence of intracranial disease among patients with esophageal cancer (EC), optimal management for these patients has not been established. The aim of this real-world study is to describe the clinical characteristics, treatment approaches, and outcomes for esophageal squamous cell carcinoma (ESCC) patients with brain metastases in order to provide a reference for treatment and associated outcomes of these patients.

METHODS: Patients with ESCC treated at the Fourth Hospital of Hebei Medical University between January 1, 2009 and May 31,2020 were identified in an institutional tumor registry. Patients with brain metastases were included for further analysis and categorized by treatment received. Survival was evaluated by the Kaplan-Meier method and Cox proportional hazards models.

RESULTS: Among 19,225 patients with ESCC, 66 (0.34%) were diagnosed with brain metastases. Five patients were treated with surgery, 40 patients were treated with radiotherapy, 10 with systemic therapy alone, and 15 with supportive care alone. The median follow-up time was 7.3 months (95% CI 7.4-11.4). At last follow-up, 59 patients are deceased and 7 patients are alive. Median overall survival (OS) from time of brain metastases diagnosis was 7.6 months (95% CI 5.3-9.9) for all cases. For patients who received locoregional treatment, median OS was 10.9 months (95% CI 7.4-14.3), and survival rates at 6 and 12 months were 75.6% and 37.2%, respectively. For patients without locoregional treatment, median OS was 3.0 months (95% CI 2.5-3.5), and survival rates at 6 and 12 months were 32% and 24%, respectively. OS was significantly improved for patients who received locoregional treatment compared to those treated with systematic treatment alone or supportive care (HR: 2.761, 95% CI 1.509-5.053, P=0.001). The median OS of patients with diagnosis-specific graded prognostic assessment (DS-GPA) score 0-2 was 6.4 months, compared to median OS of 12.3 months for patients with DS-GPA >2 (HR: 0.507, 95% CI 0.283-0.911).

CONCLUSION: Brain metastases are rare in patients with ESCC. DS-GPA score maybe a useful prognostic tool for ESCC patients with brain metastases. Receipt of locoregional treatment including brain surgery and radiotherapy was associated with improved survival.

PMID:33996573 | PMC:PMC8117143 | DOI:10.3389/fonc.2021.652509

Aggressive scalp and sternal lesion: A presentation of rare case of metastatic eccrine carcinoma

Fetched: May 18th, 2021, 5:01am GMT by Cha Sha Rownose

Ann Med Surg (Lond). 2021 Apr 16;65:102322. doi: 10.1016/j.amsu.2021.102322. eCollection 2021 May.

ABSTRACT

INTRODUCTION: Ductal Eccrine carcinoma (DEC) is a rare primary cutaneous tumor that exhibits both squamous and adnexal ductal differentiation. Due to its rarity in clinical practice we present as case of DEC and a literature review on the latest management of this rare disease.

CASE PRESENTATION: We report a case 41 years old female presented with lesion on the scalp and sternal mass, increasing in size with itchiness and erythematous for 6 months duration. Further CECT scan of brain and neck shows features of malignant left frontal scalp lesion with poor plane with overlying skin and underlying skull bone and CECT of thorax shows a large, irregular heterogeneously enhancing mass with necrotic center noted at right hilar within superior segment of right lower lobe, encasing right middle and lower lobe bronchi. Wedge biopsy of scalp lesion showed an intradermal lesion extensively infiltrating by malignant gland accompanied by desmoplasia and the tumor cells are seen extending into the surgical margins suggestive of ductal eccrine carcinoma.Clinical Discussion:This case highlights the importance and challenges in achieving early diagnosis coupled with the scarcity of information on these leads to difficulty in managing this patient.

CONCLUSION: In managing Ductal Eccrine Carcinoma tumor, standard method of treatment for has not been established. However, wide surgical excision is the treatment of choice for localized lesions. Regarding prognosis, there is conflicting data published which we describe in this article.

PMID:33996055 | PMC:PMC8091880 | DOI:10.1016/j.amsu.2021.102322

Acute symptomatic seizures and COVID-19: Hospital-based study

Fetched: May 18th, 2021, 5:01am GMT by Eman M Khedr

Epilepsy Res. 2021 May 5;174:106650. doi: 10.1016/j.eplepsyres.2021.106650. Online ahead of print.

ABSTRACT

BACKGROUND AND PURPOSE: Post COVID-19 seizures are relatively rare. The aim of the present study was to estimate the frequency of acute symptomatic seizures among patients with COVID-19 and to discuss possible pathophysiological mechanisms.

MATERIAL AND METHODS: Out of 439 cases with COVID-19 that were admitted to Assiut and Aswan University hospitals during the period from 1 June to 10 August 2020, 19 patients (4.3 %) presented with acute symptomatic seizures. Each patient underwent computed tomography (CT) or magnetic resonance imaging (MRI) of the brain and conventional electroencephalography (EEG). Laboratory investigations included: blood gases, complete blood picture, serum D-Dimer, Ferritin, C-reactive protein, renal and liver functions, and coagulation profile.

RESULTS: Of the 19 patients, 3 had new onset seizures without underlying pathology (0.68 % out of the total 439 patients); 2 others (0.46 %) had previously diagnosed controlled epilepsy with breakthrough seizures. The majority of cases (14 patients, 3.19 %) had primary pathology that could explain the occurrence of seizures: 5 suffered a post COVID-19 stroke (3 ischemic and 2 hemorrhagic stroke); 6 patients had COVID-related encephalitis; 2 patients were old ischemic stroke patients; 1 patient had a brain tumor and developed seizures post COVID-19.

CONCLUSION: acute symptomatic seizure is not a rare complication of post COVID-19 infection. Both new onset seizures and seizures secondary to primary brain insult (post COVID encephalitis or recent stroke) were observed.

PMID:33993018 | PMC:PMC8096525 | DOI:10.1016/j.eplepsyres.2021.106650

Papillary glioneuronal tumors: Distinctive cytological characteristics and cyto-histologic correlation

Fetched: May 17th, 2021, 5:01am GMT by A Puzyrenko

Ann Diagn Pathol. 2021 May 10;53:151757. doi: 10.1016/j.anndiagpath.2021.151757. Online ahead of print.

ABSTRACT

Intraoperative cytological examination and cyto-histologic correlation of papillary glioneuronal tumors have rarely been described in detail in the literature. A 23-year-old female presented at our institution with seizure-like activity, and a 3.0 cm left temporal lobe hypoattenuating lesion. She was accurately diagnosed with papillary glioneuronal tumor on Intraoperative cytology. The patient subsequently proceeded to stealth-guided awake left temporal craniotomy, confirming the diagnosis. In this article, we present a detailed report of papillary glioneuronal tumor (extremely rare central nervous system neoplasm) describing the cytologic and histologic morphologic features, its differential diagnosis with review of the literature.

PMID:33991783 | DOI:10.1016/j.anndiagpath.2021.151757

Esophageal metastases from primary lung cancer: a case report

Fetched: May 15th, 2021, 5:01am GMT by Chang-Yong Wang

J Med Case Rep. 2021 May 12;15(1):265. doi: 10.1186/s13256-021-02765-x.

ABSTRACT

BACKGROUND: Primary lung cancer is one of the most frequently diagnosed cancers. The common metastatic sites are the liver, bones, brain, adrenal glands and central nervous system. However, gastrointestinal metastases, particularly esophageal metastases, from lung cancer are rare. There are no cases of esophageal metastases from lung cancer which refer to its particular treatment.

CASE PRESENTATION: We report a case of esophageal metastases from lung cancer. The patient was a 55-year-old Han Chinese man who first attended our hospital due to dry cough and was diagnosed with late-stage lung cancer. Three months later, the patient complained of dysphagia. Endoscopic ultrasonography (EUS) and pathological examination of the biopsy specimen was performed to confirm the lesion was metastases from lung cancer. Thyroid transcription factor 1 (TTF-1), cytokeratin 7 (CK-7) and napsin A were positive by immunohistochemistry examination. These results reconfirmed the diagnosis of esophageal metastases from lung cancer.

CONCLUSIONS: Esophageal metastasis from lung cancer is very rare. It may be alleviated with personalized chemotherapy. In addition, molecular targeted therapy for patients with epidermal growth factor receptor (EGFR) mutations may be reasonable.

PMID:33975638 | PMC:PMC8114513 | DOI:10.1186/s13256-021-02765-x

Metastatic Hepatic Epitheloid Hemangioendothelioma in a Young Male: A Rare Presentation

Fetched: May 14th, 2021, 5:01am GMT by Tanweerul Huda

Gastrointest Tumors. 2021 Apr;8(2):58-62. doi: 10.1159/000513963. Epub 2021 Feb 18.

ABSTRACT

Hepatic EHE (epithelioid hemangioendothelioma) is an uncommon entity of vascular origin and a low-grade malignant tumor. Primary hepatic EHE is rare. These tumors can be multifocal at presentation like in the soft tissues, bones, brain, liver, and small intestine. First described by Weiss and Enzinger in 1982 as a malignant vascular neoplasm with indolent behavior. We report the case of a 23-year-old male, known case of chronic liver disease, who presented with incisional hernia following exploratory laparotomy 8 months back, performed for intestinal obstruction. Contrast-enhanced computed tomography abdomen revealed an incisional hernia with a large defect along with multiple lesions in the liver (suspected metastases) and peritoneal deposits and a few discrete lung nodules. Some areas of interloop collections were also noted. Biopsies were taken from the liver which revealed benign cirrhotic lesion. Relevant to the findings, multiple biopsies were performed and fluid was sent for evaluation. The liver biopsy came out positive for borderline vascular malignancy (epithelioid hemangioendothelioma). This was confirmed with the immunohistochemistry report. Epithelioid hemangioendothelioma occurs mostly in soft tissues of extremity and lungs. The involvement of the liver may be seen as metastasis or rarely as a primary tumor. The incidence of primary malignant hepatic hemangioendothelioma is about 0.1/100,000; the mean age at the time of diagnosis is 41.7 years, and male:female ratio is 2:3. Liver transplantation, hepatectomy, chemoembolization, radiotherapy, and chemotherapeutic agents are reported treatment regimens. Malignant EHE of liver presents as multiple hepatic nodules. Being locally aggressive, it can invade the peritoneum, gut, and lungs. Orthoptic liver transplantation appears to be the only remedy because of the multifocal nature of the disease. Partial hepatectomy is possible for localized tumors.

PMID:33981683 | PMC:PMC8077464 | DOI:10.1159/000513963

Stereotactic Radiosurgery for Differentiated Thyroid Cancer Brain Metastases: An International, Multicenter Study

Fetched: May 13th, 2021, 5:01am GMT by Adomas Bunevicius

Thyroid. 2021 May 11. doi: 10.1089/thy.2020.0947. Online ahead of print.

ABSTRACT

Background: Brain metastases (BM) from differentiated thyroid cancer are rare. Stereotactic radiosurgery (SRS) is commonly used for the treatment of BMs; however, the experience with SRS for thyroid cancer BMs remains limited. The goal of this international, multi-centered study was to evaluate the efficacy and safety of SRS for thyroid cancer BMs. Methods: From 10 institutions participating in the International Radiosurgery Research Foundation, we pooled patients with established papillary or follicular thyroid cancer diagnosis who underwent SRS for histologically confirmed or radiologically suspected BMs. We investigated patient overall survival (OS), local tumor control, and adverse radiation events (AREs). Results: We studied 42 (52% men) patients who underwent SRS for 122 papillary (83%) or follicular (17%) thyroid cancer BMs. The mean age at SRS was 59.86 ± 12.69 years. The mean latency from thyroid cancer diagnosis to SRS for BMs was 89.05 ± 105.49 months. The median number of BMs per patient was 2 (range: 1-10 BMs). The median SRS treatment volume was 0.79 cm³ (range: 0.003-38.18 cm³), and the median SRS prescription dose was 20 Gy (range: 8-24 Gy). The median survival after SRS for BMs was 14 months (range: 3-58 months). The OS was significantly shorter in patients harboring ≥2 BMs, when compared with patients with one BM (Log-rank = 5.452, p = 0.02). Two or more BMs (odds ratio [OR] = 3.688; confidence interval [CI]: 1.143-11.904; p = 0.03) and lower Karnofsky performance score at the time of SRS (OR = 0.807; CI: 0.689-0.945; p = 0.008) were associated with shorter OS. During post-SRS imaging follow-up of 25.21 ± 30.49 months, local failure (progression and/or radiation necrosis) of BMs treated with SRS was documented in five (4%) BMs at 7.2 ± 7.3 months after the SRS. At the last imaging follow-up, the majority of patients with available imaging data had stable intracranial disease (33%) or achieved complete (26%) or partial (24%) response. There were no clinical AREs. Post-SRS peritumoral T2/fluid attenuated inversion recovery signal hyperintensity was noted in 7% BMs. Conclusion: The SRS allows durable local control of papillary and follicular thyroid cancer BMs in the vast majority of patients. Higher number of BMs and worse functional status at the time of SRS are associated with shorter OS in patients with thyroid cancer BMs. The SRS is safe and is associated with a low risk of AREs.

PMID:33978475 | DOI:10.1089/thy.2020.0947

Permalink for 'Malignant Peripheral Nerve Sheath Tumor of the Cerebellar Hemisphere: An Unusual Location and Multiple Intracranial Parenchyma Metastases'

Malignant Peripheral Nerve Sheath Tumor of the Cerebellar Hemisphere: An Unusual Location and Multiple Intracranial Parenchyma Metastases

Fetched: May 13th, 2021, 5:01am GMT by Jiangwei Ding

Cureus. 2021 Apr 8;13(4):e14373. doi: 10.7759/cureus.14373.

ABSTRACT

Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft tissue malignancies that can occur in any part of the body. The most common sites are the proximal limbs and trunk. Intracranial MPNSTs are rare; most originate from the auditory, trigeminal, and other cranial nerves, and occurrence within the brain parenchyma is rarer. Here, we describe a malignant peripheral schwannoma in the cerebellar hemisphere of the brain parenchyma. To our knowledge, this is the first case of brain parenchymal metastasis of an MPNST. We observed no effects on the tumor after the application of multiple chemotherapy drugs; thereafter, we explored the literature surrounding the condition.

PMID:33976994 | PMC:PMC8106482 | DOI:10.7759/cureus.14373

Glioma with Leptomeningeal Spread Mimics Chronic Meningoencephalitis in a Young Adult

Fetched: May 13th, 2021, 5:01am GMT by Ann-Kristin Becker

Case Rep Neurol. 2021 Mar 18;13(1):179-183. doi: 10.1159/000513562. eCollection 2021 Jan-Apr.

ABSTRACT

The most malignant type of intrinsic brain tumor is glioblastoma (WHO grade IV). Primary leptomeningeal spread is rare and leads to a variety of differential considerations, as there is no typical clinical or imaging pattern. Here we present a rare and uncommon case of a primary leptomeningeal glioblastoma in combination with a low-grade glioma in a 21-year-old male, initially presenting with only headache and lower back pain. The presented case illustrates the challenging differential considerations and the severe course of leptomeningeal glioblastomas.

PMID:33976653 | PMC:PMC8077407 | DOI:10.1159/000513562

Left Upper Lung Cancer with Mediastinal Inferior Lober Branch of Pulmonary Artery

Fetched: May 13th, 2021, 5:01am GMT by Hiroshi Matsui

Kyobu Geka. 2021 Feb;74(2):112-115.

ABSTRACT

We herein report a rare case of an antero-basal pulmonary artery that was noticed during left upper lung lobectomy. A 61-year-old man underwent surgery and radiation for a brain tumor, which was diagnosed as a solitary metastasis of the primary lung cancer in the upper lobe of the left lung. He underwent left upper lobectomy for the lung cancer. During the operation, the left A4+5 and A8b+9+10 was found to be diverged from the main left pulmonary artery as the first branch, which descended between the left upper pulmonary vein and the left upper bronchus. The left upper lobe was successfully resected with preserving the A8b+9+10. This variation was not recognized preoperatively. Careful dissection along the pulmonary vessels is essential to prevent cutting off the unexpected aberrant anatomy.

PMID:33976015

Expectoration of tonsillar metastasis of pulmonary pleomorphic carcinoma after pseudoprogression: A case report

Fetched: May 12th, 2021, 5:01am GMT by Tomoki Kuge

Thorac Cancer. 2021 May 11. doi: 10.1111/1759-7714.13948. Online ahead of print.

ABSTRACT

Pulmonary pleomorphic carcinoma is a rare malignant tumor that grows rapidly and has a poor prognosis. Although no effective treatments have so far been established, immune checkpoint inhibitors (ICIs) have shown clinical improvement in some cases of pleomorphic carcinoma. However, pseudoprogression is a major concern for treatment of this carcinoma using ICIs. Here, we report the case of a 61-year-old man who was diagnosed with large cell carcinoma of the lung with brain metastases. Systemic chemotherapy comprising carboplatin and pemetrexed was administered as a first-line therapy; however, disease progression was observed. A tonsillar lesion grew rapidly after the administration of nivolumab as a second-line therapy. Tracheostomy was planned to avoid suffocation, but the patient naturally expectorated the tumor. Pathological examination revealed that it was a palatine tonsillar metastasis of pulmonary pleomorphic carcinoma with infiltration of CD8+/CD4- lymphocytes and necrosis. The primary lesion expanded after nivolumab administration and shrank with no additional nivolumab administration. We therefore concluded that pseudoprogression caused expectoration of the tonsillar metastasis. Hence, ICIs can cause serious adverse events due to pseudoprogression.

PMID:33973724 | DOI:10.1111/1759-7714.13948

Pediatric Head and Neck Tumors Associated with Li-Fraumeni Syndrome

Fetched: May 12th, 2021, 5:01am GMT by Kenny D Rodriguez

Ann Otol Rhinol Laryngol. 2021 May 10:34894211014786. doi: 10.1177/00034894211014786. Online ahead of print.

ABSTRACT

INTRODUCTION: Cancer predisposition syndromes are germline pathogenic variants in genes that greatly raise the risk of developing neoplastic diseases. One of the most well-known is Li-Fraumeni syndrome (LFS), which is due to pathogenic variants in the TP53 gene. Children with LFS have higher risks for multiple malignancies before adulthood, often with rare and aggressive subtypes.

OBJECTIVE: To examine head and neck manifestations of LFS in children treated at a tertiary children's hospital over a 20-year period.

METHODS: A retrospective review of LFS children with neoplastic disease presenting in traditional Otolaryngologic head and neck subsites from 2000 to 2019, with patient charts reviewed for relevant clinical, imaging, and operative data.

RESULTS: Of the 40 LFS patients initially identified, 27 neoplastic tumors were identified in 20 children within this cohort (20 primary, 7 second primary). Head and neck subsites aside from the brain or orbit were involved in 22% (6/27) of these tumors, representing 20% (4/20) of primary tumors and 29% (2/7) of second primary tumors. Both second primaries within the head and neck were within the radiation fields of the first primary tumor. The mean ages at primary and second primary diagnosis were 4.6 years (SD 3.5) and 12 years (SD 1.4), respectively. The male/female ratio was 1:6 among all patients with head and neck tumors. All 6 head and neck tumors were sarcomas. Rhabdomyosarcoma (N = 3, 50%) was the most common pathology, and the other 3 demonstrated rare tumor pathological subtypes (synovial cell sarcoma, pleomorphic myxoid liposarcoma, mandibular osteosarcoma). The neck was the most common subsite (75%) within this group for primary tumor presentation.

CONCLUSION: This study identifies a high potential for head and neck involvement in children with LFS, which has not been previously described in the literature. Otolaryngological care should be included in a multidisciplinary care team surveilling these patients.

PMID:33971750 | DOI:10.1177/00034894211014786

CT and Magnetic Resonance Imaging Findings of the Intracranial Extra-cerebral Chondroma:A Case Report

Fetched: May 12th, 2021, 5:01am GMT by Qing Lin Meng

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2021 Apr 28;43(2):300-304. doi: 10.3881/j.issn.1000-503X.12506.

ABSTRACT

Intracranial intradural chondroma is a rare disorder,the imaging findings of which have been rarely reported.The current study reported a case of intracranial extra-cerebral chondroma and described the detailed CT and magnetic resonance imaging findings,which would provide valuable imaging evidence for the diagnosis of intracranial extra-cerebral chondroma.

PMID:33966714 | DOI:10.3881/j.issn.1000-503X.12506

Permalink for 'Extraneural Metastases of Diffuse Midline Glioma, H3 K27M-Mutant at Diagnosis: Case Report, Review of the Literature, and Identifying Targetable Alterations'

Extraneural Metastases of Diffuse Midline Glioma, H3 K27M-Mutant at Diagnosis: Case Report, Review of the Literature, and Identifying Targetable Alterations

Fetched: May 12th, 2021, 5:01am GMT by Margot A Lazow

J Pediatr Hematol Oncol. 2021 May 11. doi: 10.1097/MPH.0000000000002189. Online ahead of print.

ABSTRACT

Extraneural metastases are rare in pediatric high-grade gliomas and little is known about the genomic profiles of tumors that disseminate beyond the central nervous system. We describe a pediatric patient with H3 K27M-mutant diffuse midline glioma of the brain and spine with biopsy-confirmed osseous metastases present at diagnosis and suspected metastatic parenchymal pulmonary disease. Several potentially clinically and/or therapeutically relevant genomic alterations were identified, including H3F3A and TP53 mutations as well as MET, CDK6, EMSY, and PIK3CG amplifications. Sequencing is critical to improve our understanding of the molecular drivers of distant metastases and discover therapeutic targets that penetrate all disease sites.

PMID:33974582 | DOI:10.1097/MPH.0000000000002189

Partial response to Chinese patent medicine Kangliu pill for adult glioblastoma: A case report and review of the literature

Fetched: May 11th, 2021, 5:01am GMT by Ge Sun

World J Clin Cases. 2021 Apr 26;9(12):2845-2853. doi: 10.12998/wjcc.v9.i12.2845.

ABSTRACT

BACKGROUND: Glioblastoma is the most common type of brain tumor and is invariably fatal, with a mean survival time of 8-15 mo for recently diagnosed tumors, and a 5-year survival rate of only 7.2%. The standard treatment for newly diagnosed glioblastoma includes surgery followed by concurrent chemoradiotherapy and further adjuvant temozolomide. However, the prognosis remains poor and long-term survival is rare. This report aimed to demonstrate a new therapeutic strategy for the treatment of glioblastoma.

CASE SUMMARY: A patient was referred to the Department of Neurosurgery with an intracranial space-occupying lesion with a maximum diameter of approximately 5 cm. The tumor was compressing functional areas, and the patient accordingly underwent partial resection and concurrent chemoradiotherapy. The imaging and pathological findings were consistent with a diagnosis of glioblastoma with oligodendroglioma differentiation (World Health Organization IV). The patient was finally diagnosed with glioblastoma. However, the patient discontinued treatment due to intolerable side effects, and was prescribed Kangliu pill (KLP) 7.5 g three times/d, which he has continued to date. Significant shrinkage of the tumor (maximum diameter reduced from about 3.5 to about 2 cm) was found after 3 mo of KLP therapy, and the tumor was further reduced to about 1 cm after 3 years. The patient's symptoms of headache, limb weakness, and left hemiplegia were relieved, with no side effects.

CONCLUSION: KLP has been a successful intervention for glioblastoma, and the current case indicates that traditional Chinese medicine may offer effective alternative therapies for glioblastoma.

PMID:33969068 | PMC:PMC8058673 | DOI:10.12998/wjcc.v9.i12.2845

Congenital medulloblastoma presented in the neonatal period

Fetched: May 11th, 2021, 5:01am GMT by Patricio García-Espinosa

Autops Case Rep. 2021 Apr 22;11:e2021258. doi: 10.4322/acr.2021.258.

ABSTRACT

Congenital medulloblastoma is a rare brain tumor that appears in less than 1% of pediatric patients. Congenital medulloblastoma has a poor prognosis and should be suspected in patients with clinical manifestations of hyporeactivity, slow suction reflexes, and the presence of hydrocephalus. Herein we present the case of a 12-day-old female newborn who developed non-communicative hydrocephalus, hyporeactivity, and hyporeflexia. Magnetic resonance imaging of her brain showed a heterogeneous and cystic mass on the posterior cranial fossa. A suboccipital craniotomy was performed. The histopathologic analysis reported a congenital medulloblastoma. She remained in hospital until her death at 112 days old. This is one of the first case reports with clinical-radiological and pathological documentation. Awareness of this diagnosis can allow prenatal intervention, rendering a better prognosis. This case report exemplifies the importance of good prenatal follow-up.

PMID:33968829 | PMC:PMC8087391 | DOI:10.4322/acr.2021.258

Permalink for 'Small bowel perforation and death caused by anaplastic thyroid carcinoma metastasis in a patient with concomitant colonic and bilateral breast carcinoma'

Small bowel perforation and death caused by anaplastic thyroid carcinoma metastasis in a patient with concomitant colonic and bilateral breast carcinoma

Fetched: May 11th, 2021, 5:01am GMT by Jan Hrudka

Autops Case Rep. 2021 Mar 26;11:e2021255. doi: 10.4322/acr.2021.255.

ABSTRACT

Undifferentiated or anaplastic thyroid carcinoma (ATC) is rare and one of the most aggressive human malignancies. The tumor is usually voluminous and fast-growing and mostly affects older women. The most common sites of distant metastases are the lungs, brain, and bones. Herein, we describe the case of a 66-year-old woman with a history of bilateral breast carcinoma and ATC, who presented with an acute abdomen and subsequently died. At autopsy, an isolated metastasis of ATC in the small intestine leading to bowel perforation was found. Moreover, there was adenocarcinoma in the descending colon. The review of extra-abdominal malignancies metastasizing to bowel and coincidence of breast and thyroid carcinoma is included.

PMID:33968828 | PMC:PMC8087352 | DOI:10.4322/acr.2021.255

Permalink for 'Clinical features and surgical results of pediatric pleomorphic xanthoastrocytoma: analysis of 17 cases with a literature review'

Clinical features and surgical results of pediatric pleomorphic xanthoastrocytoma: analysis of 17 cases with a literature review

Fetched: May 10th, 2021, 5:01am GMT by Wenhao Wu

World Neurosurg. 2021 May 6:S1878-8750(21)00672-0. doi: 10.1016/j.wneu.2021.04.129. Online ahead of print.

ABSTRACT

BACKGROUND: Pediatric pleomorphic xanthoastrocytoma (PXA) is a rare brain tumor. To date, there are few studies dedicated to this kind of pediatric tumor. The aim of this study was to investigate the clinicopathologic characteristics of pediatric PXA.

METHODS: We retrospectively analyzed 17 pediatric patients diagnosed with PXA histologically between July 2009 and December 2018. We also reviewed the relevant literature.

RESULTS: The majority of pediatric PXAs had cystic components and peritumoral edema, and approximately 40% of the tumors had calcifications. All large tumors (≥5 cm) were located in the nontemporal lobes except 1 (P = 0.05). Furthermore, the large tumors were primarily solid-cystic or cystic with mural nodules radiologically, while tumors measuring <5 cm were mainly solid or solid with cystic changes (P = 0.02). All patients underwent surgery, and 15 patients experienced complete tumor removal. Histologically, 11 patients had grade II PXAs and 6 patients had grade III PXAs. After the operation, most of the patients recovered uneventfully and the seizures were well controlled. The mean follow-up time was 43 months. Five patients received radiotherapy or chemotherapy. One patient had tumor recurrence 5 years after the first operation and underwent repeat surgery.

CONCLUSIONS: Cystic components and peritumoral edema could be seen in most pediatric PXAs, and calcification was also not uncommon. The size of the tumor was correlated with the tumor site and radiologic subtype. Maximal safe resection of pediatric PXA is recommended and was shown to be beneficial for seizure control and survival.

PMID:33964500 | DOI:10.1016/j.wneu.2021.04.129

Status epilepticus and diabetes ketoacidosis: uncommon clinical presentations of acromegaly

Fetched: May 8th, 2021, 5:01am GMT by Nyasatu G Chamba

Endocrinol Diabetes Metab Case Rep. 2021 Apr 1;2021:EDM200156. doi: 10.1530/EDM-20-0156. Online ahead of print.

ABSTRACT

SUMMARY: Acromegaly is a rare disease caused by hypersecretion of the growth hormone (GH). Most cases are caused by either pituitary microadenoma or macroadenoma. The GH producing tumors present with clinical manifestations of acromegaly due to excessive GH secretion or symptoms resulting from mass effects of the enlarging tumor. The physical changes are usually slow and, therefore, recognition of the disease is delayed. These adenomas are never malignant but can have significant morbidity and mortality. A subgroup of patients with acromegaly present with severe hyperglycemia resulting in diabetic ketoacidosis (DKA) which requires insulin. Rarely are pituitary tumors responsible for generalized convulsions except when they are too large. We hereby present two cases, the first is that of a 26-year-old female who presented with new onset status epilepticus, DKA with a 1-year history of diabetes mellitus (DM). On examination, she had clinical features of acromegaly. The second case is that of a 34-year-old female who presented with new onset status epilepticus, hyperglycemia with a history of recently diagnosed DM, and features of gigantism. In both cases, their diagnosis was confirmed by elevated serum GH and later by elevated insulin-like growth factor type 1 levels, and CT of the head demonstrating large pituitary macroadenoma. The importance of clinical history and examination, as well as investigations is vital in the recognition of acromegaly. The prognosis of acromegalic patients depends on early clinical recognition and tumor size reduction by either medical or surgical therapy.

LEARNING POINTS: Conditions such as status epilepticus and DKA may be clinical presentations in patients presenting with acromegaly. Seizures are rare in people with pituitary adenoma and typically occur when the tumor invades the suprasellar area due to mass effect on the brain. This article shows how best we were able to manage the acromegaly complications in a low resource setting. Hyperprolactinemia in acromegaly may be due to disruption of the normal dopaminergic inhibition of prolactin secretion due to mass effect of the macroadenoma, and around 25% of GH-secreting adenomas co-secrete prolactin.

PMID:33960324 | DOI:10.1530/EDM-20-0156

Current and emerging therapies for primary central nervous system lymphoma

Fetched: May 8th, 2021, 5:01am GMT by Yan Yuan

Biomark Res. 2021 May 6;9(1):32. doi: 10.1186/s40364-021-00282-z.

ABSTRACT

Primary central nervous system (CNS) lymphoma (PCNSL) is a rare type of extranodal lymphoma exclusively involving the CNS at the onset, with diffuse large B-cell lymphoma (DLBCL) as the most common histological subtype. As PCNSL is a malignancy arising in an immune-privileged site, suboptimal delivery of systemic agents into tumor tissues results in poorer outcomes in PCNSL than in non-CNS DLBCLs. Commonly used regimens for PCNSL include high-dose methotrexate-based chemotherapy with rituximab for induction therapy and intensive chemotherapy followed by autologous hematopoietic stem cell transplantation or whole-brain radiotherapy for consolidation therapy. Targeted agents against the B-cell receptor signaling pathway, microenvironment immunomodulation and blood-brain barrier (BBB) permeabilization appear to be promising in treating refractory/relapsed patients. Chimeric antigen receptor-T cells (CAR-T cells) have been shown to penetrate the BBB as a potential tool to manipulate this disease entity while controlling CAR-T cell-related encephalopathy syndrome. Future approaches may stratify patients according to age, performance status, molecular biomarkers and cellular bioinformation. This review summarizes the current therapies and emerging agents in clinical development for PCNSL treatment.

PMID:33957995 | PMC:PMC8101140 | DOI:10.1186/s40364-021-00282-z

Lion in Sheep's Clothing: Glioblastoma Mimicking Intracranial Hemorrhage

Fetched: May 6th, 2021, 5:01am GMT by Andrea Broka

Cureus. 2021 Mar 31;13(3):e14212. doi: 10.7759/cureus.14212.

ABSTRACT

Intracranial hemorrhage (ICH) as a unique image finding, is a rare presentation of glioblastoma (GBM), and can pose a diagnostic challenge. Hypertensive vascular changes are responsible for the majority of the ICH cases, where hemorrhage from brain tumors account only for 5.1% to 7.2% of cases and, the etiology seems to be multifactorial. We present a clinical case of a 70-year-old male who came to the emergency department after a syncopal episode at the workplace, associated with nausea and vomiting. Computed tomography scan and magnetic resonance imaging showed intracranial subdural hematoma, subarachnoidal and interventricular hemorrhage without any underlying lesion. Follow-up imaging in one month showed a new ICH with a thick peripheral mass concerning an underlying neoplasm. The patient underwent tumor resection and immunohistochemical staining confirmed glioblastoma. Despite a multiapproach treatment, including, chemotherapy, radiotherapy, and follow-up surgery, the outcome was poor. GBM is a great mimicker and may initially present with unassuming intracranial hemorrhage with a much more sinister hidden diagnosis. A high index of suspicion on initial imaging based on the patient's demographics with early tissue diagnosis is crucial in arriving at the correct diagnosis. This case reinforces the importance of close interval follow-up in patients with spontaneous ICH, maintaining a high suspicion for brain tumors. To date, GBM remains a poor prognosis despite combined surgery, chemotherapy, and radiotherapy treatment.

PMID:33948402 | PMC:PMC8086748 | DOI:10.7759/cureus.14212

B cells join T cell clusters in the host response to recurrent herpes simplex virus 2 infection

Fetched: May 6th, 2021, 5:01am GMT by Jeff R Gehlhausen

J Clin Invest. 2021 May 3;131(9):e148300. doi: 10.1172/JCI148300.

ABSTRACT

Recurrent genital herpes lesions are infiltrated by various leukocytes, yet the role of B cell subsets in this process is unknown. In this issue of the JCI, Ford et al. describe the presence and antibody-secreting role of local B cell populations in herpes simplex virus 2 (HSV-2) recurrent lesions. The authors analyzed a comprehensive array of sequential skin biopsy specimens from HSV-2-infected patients over time and at various stages of infection. Using immunofluorescence and in situ hybridization, the authors show the presence of rare IgD+ naive B cells and IgG-expressing antibody-secreting cells (ASCs) in recurrent HSV-2 lesions embedded in CD4+ T cell-rich dermal immune infiltrates, levels of which transiently increase during lesion reactivation and healing. Notably, local increases in HSV-2-specific antibodies in recurrent lesions were detected, whereas serum HSV-2 antibody levels remained stable. Future research is needed to understand the precise role of these tissue-visiting B cells in disease resolution.

PMID:33938452 | PMC:PMC8087191 | DOI:10.1172/JCI148300

The extreme anterior interhemispheric transcallosal approach for pure aqueduct tumors: surgical technique and case series

Fetched: May 5th, 2021, 5:01am GMT by Carlo Serra

Neurosurg Rev. 2021 May 4. doi: 10.1007/s10143-021-01555-9. Online ahead of print.

ABSTRACT

Purely aqueductal tumors represent a rare but distinct entity of neoplasms with characteristic morphology and clinical presentation. This study aims to describe the extreme anterior interhemispheric transcallosal approach as a surgical option for purely aqueductal tumors in the upper part of the cerebral aqueduct and present the surgical results. Prospectively collected data of 4 patients undergoing the extreme anterior interhemispheric transcallosal approach for purely aqueductal tumors in the upper cerebral aqueduct was analyzed. The technique is a variation of the anterior interhemispheric transcallosal approach. The callosotomy is placed at the transition between the body and genu of the corpus callosum, allowing an approach steep enough to reach through the foramen of Monro to the upper cerebral aqueduct without opening the choroidal fissure. All patients had preoperative, and intraoperative or immediate postoperative 3-T magnetic resonance imaging, and underwent examination at admission, after surgery, at discharge, and 3 months postoperatively. Patient data are reported according to common descriptive statistics. All patients harbored low-grade gliomas causing hydrocephalus. Complete resection was achieved without mortality or morbidity. All patients recovered and presented neurologically intact at the 3-month postoperative follow-up. None had recurrence or needed adjuvant therapy. The extreme anterior interhemispheric transcallosal approach proved to be effective and safe. This approach does not require manipulation of the choroidal fissure or disrupt healthy brain parenchyma (except for a small callosotomy). We propose it as an option for removing a purely aqueductal tumor in the upper cerebral aqueduct with associated hydrocephalus.

PMID:33945071 | DOI:10.1007/s10143-021-01555-9

Permalink for 'Abeta-related Angiitis (ABRA)-A Rare Paraneoplastic Cause of Cerebral Vasculitis in a Young Patient: A Pathway From Unspecific Neurological Symptoms to Final Diagnosis'

Abeta-related Angiitis (ABRA)-A Rare Paraneoplastic Cause of Cerebral Vasculitis in a Young Patient: A Pathway From Unspecific Neurological Symptoms to Final Diagnosis

Fetched: May 5th, 2021, 5:01am GMT by Constantin Rill

Neurologist. 2021 May 5;26(3):103-107. doi: 10.1097/NRL.0000000000000316.

ABSTRACT

INTRODUCTION: Aβ-related angiitis (ABRA) is a very rare disease entity with combined features of cerebral amyloid angiopathy and primary angiitis of the CNS. However, the pathogenesis has not been conclusively described yet. Interestingly though, a possible paraneoplastic origin has been reported in the past. ABRA leads to severe encephalopathy with a broad spectrum of unspecific neurological symptoms and usually occurs in older patients. Because of the response to immunological treatment, it is important to confirm the diagnosis as fast as possible. Unfortunately, the pathway to a definite diagnosis is often complicated and prolonged.

CASE REPORT: Here, we describe a 48-year-old-female patient presenting headache, behavioral changes as well as subacute fatigue and epileptic seizures in the recent past. The initial neuroradiological examination demonstrated extended lesions in the left hemisphere compatible with an inflammatory or neoplastic disease. After extensive investigations, initially without a definite result, we finally validated the diagnosis of ABRA by brain biopsy. Shortly afterwards a routine check-up revealed an invasive mammary carcinoma. Owing to a mandatory mastectomy and chemotherapy, an immunosuppressive therapy was not implemented.

CONCLUSIONS: The reported case demonstrates our diagnostic approach and the clinical difficulties in validating a rare cause of encephalopathy in a young patient with nonspecific clinical and neuroradiological findings. Because of the possibility of an effective treatment, it is important to consider ABRA in the differential diagnosis especially when blood tests, analysis of cerebrospinal fluid, and angiography show normal results. Since a paraneoplastic genesis is presumed, a search for an underlying tumor disease should be considered.

PMID:33942793 | DOI:10.1097/NRL.0000000000000316

The 2017 WHO classification of pituitary tumors

Fetched: May 5th, 2021, 5:01am GMT by Wolfgang Saeger

Pathologe. 2021 May;42(3):333-351. doi: 10.1007/s00292-021-00932-x. Epub 2021 Apr 20.

ABSTRACT

The 2017 WHO classification of pituitary tumors is still based on structural analyses and expression of various pituitary hormones. Three innovations have to be considered: (1) The expression of pituitary transcription factors Pit‑1, T‑Pit and SF‑1. (2) The term "atypical adenoma" was replaced by "aggressive adenoma". (3) The three tumor types of the neurohypophysis (pituicytoma, spindle cell oncocytoma, granular cell tumor) are defined by their common expression of TTF‑1. Craniophyryngiomas are identified as adamantinomatous type by focal nuclear expression of β‑catenin or as papillary type by demonstration of BRAF V600E mutation. Further primary tumors of the pituitary are extremely rare. These and also the other tumors of the sellar region can be structurally very similar to pituitary adenomas but can be-nearly without exception-differentiated by immunocytochemistry.

PMID:33877399 | DOI:10.1007/s00292-021-00932-x

Clinicopathological Features of Craniopharyngioma: A 15-Year Study From a Tertiary Care Center in Pakistan

Fetched: May 4th, 2021, 5:01am GMT by Saroona Haroon

Cureus. 2021 Mar 28;13(3):e14153. doi: 10.7759/cureus.14153.

ABSTRACT

Introduction Craniopharyngiomas (CPs) are benign neoplasms and most common suprasellar tumors. They are more frequent in children, contributing to a significant number of intracranial tumors in the pediatric population and are thought to be arising either from the epithelial remnant cells of the craniopharyngeal duct or from the adenohypophysis epithelium. Two subtypes of CPs exist, namely, adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP). ACP is more common in children with a relatively aggressive clinical course and more frequent relapses than PCP. The study objective was to evaluate the clinicopathological features of CP in our population. Methods We conducted a retrospective observational study in the Department of Histopathology at Aga Khan Hospital, Karachi, Pakistan, over a period of 15 years, from January 2001 to December 2015. All CP cases were included in the study. A total of 207 cases were diagnosed during this period by histopathologists based on histologic features. All slides were retrieved, and diagnosis was confirmed after a reexamination of slides. Results We found that the mean age of diagnosis was 25.59±14.71 years, and the median follow-up time was 7 (3-19) years. The number of male patients was 136 (65.7%) and the number of female patients was 71 (34.3%). The most common tumor site was suprasellar (71.5%) followed by the sellar and temporal lobe (12.1% and 6.8%, respectively). The most common complaints were headache (21.7%), followed by loss of vision/decreased vision (16.4%) and vomiting (5.3%). The overall survival rate was 95.2% with a recurrence rate of 5.8%. A significant association of survival was noted with tumor recurrence. Conclusion CP is a rare brain tumor with good overall survival. We found a low recurrence rate of CP in our study. However, recurrence was found to be the most important factor determining survival in patients with CP.

PMID:33936868 | PMC:PMC8076872 | DOI:10.7759/cureus.14153

Intraventricular meningioma admixed with choroid plexus papilloma: a rare case report with review of literature

Fetched: May 4th, 2021, 5:01am GMT by So-Woon Kim

Int J Clin Exp Pathol. 2021 Apr 15;14(4):545-550. eCollection 2021.

ABSTRACT

A 42-year-old male presented with a history of headaches for the previous 2 weeks. Magnetic resonance imaging of the brain showed a 3 cm-sized well-defined, enhancing mass in the atrium of the right lateral ventricle. The tumor comprised two heterogeneous components: approximately one-third of the tumor exhibited complex and delicate papillary fibrovascular cores lined with uniform cuboidal-to-columnar epithelial cells, whereas the remaining part was seen as a solid sheet comprising ovoid-to-spindle cells with plump cytoplasm, which occasionally had a whorling pattern. Further, immunohistochemical staining with cytokeratin 7 (CK7) and epithelial membrane antigen (EMA) clearly demarcated each component: the CK7+/EMA- choroid plexus papilloma and CK7-/EMA+ meningioma. This report provides a description of an unusual case of concomitant choroid plexus papilloma and ventricular meningioma presenting as a single mass, along with a review of relevant literature.

PMID:33936380 | PMC:PMC8085822

Spontaneous regression of congenital brain tumors: a report of two cases

Fetched: May 4th, 2021, 5:01am GMT by Ghazaleh Kheiri

Childs Nerv Syst. 2021 May 1. doi: 10.1007/s00381-021-05172-1. Online ahead of print.

ABSTRACT

BACKGROUND: Vanishing brain tumor is defined as spontaneously disappearing or decreasing of the initial brain mass volume to ≤ 70% before establishing the definitive diagnosis. The condition is rare and can be attributed to different factors. The exact mechanism is under debate, but the increasing rate and accuracy of neuroimaging studies and occurrence of similar scenario in other pathologies rather than brain tumors can be of particular importance in finding vanishing brain lesions.

CASE REPORT: We present two unusual cases of congenital brain masses which underwent spontaneous shrinkage within the first months of life.

CONCLUSION: The condition is scarcely observed in congenital brain masses. As congenital brain lesions are distinct entities with peculiar characteristics, this rare phenomenon may reflect different aspects in this age group.

PMID:33934203 | DOI:10.1007/s00381-021-05172-1

Generalized morphoea in the setting of combined immune checkpoint inhibitor therapy for metastatic melanoma: A case report

Fetched: May 4th, 2021, 5:01am GMT by Ewan A Langan

Medicine (Baltimore). 2021 Apr 23;100(16):e25513. doi: 10.1097/MD.0000000000025513.

ABSTRACT

RATIONALE: Immune checkpoint inhibition has dramatically altered the therapeutic landscape in the treatment of a range of locally advanced and metastatic skin cancers. In particular, the treatment of metastatic melanoma with combined anti-programmed cell death protein 1 (anti-PD1) and anti-cytotoxic T-lymphocyte-associated protein 4 (anti-CTLA4) antagonists has resulted in median 5-year survival rates of over 50%. However, combined immune checkpoint inhibitor therapy frequently results in the development of immune-related adverse events (irAE) which can be severe and life-threatening. While the typical irAEs, namely colitis, thyroiditis, and hepatitis are well recognized, cutaneous irAEs are varied and can be difficult to accurately diagnose.

PATIENT CONCERNS: A 61-year-old female with metastatic melanoma presented with widespread indurated, waxy skin changes, and weight loss following combined anti-PD1 and anti-CTLA4 immunotherapy.

DIAGNOSES: Generalized morphea in the setting of combined immunotherapy.

INTERVENTIONS: Dexamethasone pulse therapy (100 mg i.v. over 3 days) was combined with topical therapy (clobetasone propionate ointment) and physiotherapy. Four cycles of dexamethasone pulse therapy, at 4 weekly intervals, led to an improvement in the skin changes, accompanied by increased mobility. However, the changes did not resolve completely.

OUTCOME: Staging examinations revealed progressive melanoma brain metastases and despite 2 further cycles of combined anti-PD1 and anti-CTLA4 immunotherapy followed by 1.5 cycles of Fotemustine, the patient died 22 months after the development of the scleroderma-like skin changes.

LESSONS: Cutaneous irAEs are varied in nature and severity. Sclerotic skin changes are rare, but unlike cutaneous irAEs related to immune checkpoint inhibitor therapy, they are often refractory to standard treatment with systemic corticosteroids. Clinicians should be aware of immunotherapy-related scleroderma to prompt dermatological evaluation to facilitate early recognition and initiate treatment. Administration of systemic immunosuppression should be carefully balanced against the risk of promoting melanoma progression.

PMID:33879687 | PMC:PMC8078305 | DOI:10.1097/MD.0000000000025513

Permalink for 'Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin'

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin

Fetched: May 1st, 2021, 5:01am GMT by Alisa Förster

Acta Neuropathol. 2021 Apr 30. doi: 10.1007/s00401-021-02307-1. Online ahead of print.

ABSTRACT

The genetic basis of brain tumor development is poorly understood. Here, leukocyte DNA of 21 patients from 15 families with ≥ 2 glioma cases each was analyzed by whole-genome or targeted sequencing. As a result, we identified two families with rare germline variants, p.(A592T) or p.(A817V), in the E-cadherin gene CDH1 that co-segregate with the tumor phenotype, consisting primarily of oligodendrogliomas, WHO grade II/III, IDH-mutant, 1p/19q-codeleted (ODs). Rare CDH1 variants, previously shown to predispose to gastric and breast cancer, were significantly overrepresented in these glioma families (13.3%) versus controls (1.7%). In 68 individuals from 28 gastric cancer families with pathogenic CDH1 germline variants, brain tumors, including a pituitary adenoma, were observed in three cases (4.4%), a significantly higher prevalence than in the general population (0.2%). Furthermore, rare CDH1 variants were identified in tumor DNA of 6/99 (6%) ODs. CDH1 expression was detected in undifferentiated and differentiating oligodendroglial cells isolated from rat brain. Functional studies using CRISPR/Cas9-mediated knock-in or stably transfected cell models demonstrated that the identified CDH1 germline variants affect cell membrane expression, cell migration and aggregation. E-cadherin ectodomain containing variant p.(A592T) had an increased intramolecular flexibility in a molecular dynamics simulation model. E-cadherin harboring intracellular variant p.(A817V) showed reduced β-catenin binding resulting in increased cytosolic and nuclear β-catenin levels reverted by treatment with the MAPK interacting serine/threonine kinase 1 inhibitor CGP 57380. Our data provide evidence for a role of deactivating CDH1 variants in the risk and tumorigenesis of neuroepithelial and epithelial brain tumors, particularly ODs, possibly via WNT/β-catenin signaling.

PMID:33929593 | DOI:10.1007/s00401-021-02307-1

Conventional Treatments Cannot Improve Outcomes of Early-Stage Primary Breast Marginal Zone Lymphoma

Fetched: May 1st, 2021, 5:01am GMT by Hailing Liu

Front Oncol. 2021 Apr 13;10:609512. doi: 10.3389/fonc.2020.609512. eCollection 2020.

ABSTRACT

INTRODUCTION: Primary breast marginal zone lymphoma (PBMZL) is a rare occurrence and less is known about its characteristics, treatments, and outcomes.

METHODS: We retrospectively reviewed 370 cases of early-stage PBMZL from the Surveillance, Epidemiology, and End Results database. Statistical analyses were performed to describe clinical features, determine prognostic factors, and compare different therapeutic strategies.

RESULTS: At a median follow-up of 68.5 months, the 5-year overall survival (OS) and disease-specific survival (DSS) rate were 81.2 and 95.4%, respectively. We divided the cohort into four treatment groups and compared their characteristics and survival: radiotherapy (RT) ± surgery (Sx) (n = 142, 38.4%), Sx alone (n = 71, 19.2%), any chemotherapy (CT) (n = 63, 17.0%), and none of the above (n = 94, 25.4%). Age of onset and laterality of lesions tended to relate to the choice of different treatments. Multivariate Cox analysis showed that advanced age (>60 years), concomitant tumor, and any CT (vs RT ± Sx) predicted poorer OS, while for DSS, there was no meaningful indicator (P > 0.05). Patients aged >60 years or treated with any CT seemed to have shorter DSS, but the difference only approached statistical significance. Then we applied a propensity score-matched analysis to demonstrate that neither RT- nor Sx-containing therapy could bring a better OS or DSS. The competing risk model suggested that CT was the only contributor to higher PBMZL-specific mortality.

CONCLUSION: Our results show an indolent behavior of early-stage PBMZL with long-term survival. Conventional oncological treatments fail to bring survival benefits; especially CT is detrimental to survival, suggesting that observation may be advisable in the management of early-stage PBMZL, and further research on novel targeted agents is warranted for patients in need.

PMID:33928019 | PMC:PMC8076799 | DOI:10.3389/fonc.2020.609512

Paraneoplastic limbic encephalitis due to lung squamous cell carcinoma

Fetched: May 1st, 2021, 5:01am GMT by Tetsuya So

J Surg Case Rep. 2021 Apr 24;2021(4):rjab156. doi: 10.1093/jscr/rjab156. eCollection 2021 Apr.

ABSTRACT

Paraneoplastic limbic encephalitis (PLE) is one of paraneoplastic neurological syndrome (PNS). We herein report a case of PLE due to lung squamous cell carcinoma. A 80-year-old woman visited because of several neurological symptoms. Brain magnetic resonance imaging revealed hyperintense signals at the splenium of the corpus callosum, suggesting limbic encephalitis. Chest X-ray and computed tomography showed a 17 × 14 mm tumor in the left lung field, suggesting lung cancer. Surgical examination revealed T1bN0M0 lung squamous cell carcinoma. She died 50 days after surgery due to the rapid progression of encephalitis. PLE is an extremely rare disorder, and even a case in the early stage of cancer shows poor prognosis. We should doubt a possibility of PLE, and detailed brain examination should be performed in case of consciousness disorder with rapid progression in the cancer patient.

PMID:33927880 | PMC:PMC8068470 | DOI:10.1093/jscr/rjab156

Neoplastic Meningitis and Paraneoplastic Syndromes

Fetched: May 1st, 2021, 5:01am GMT by Sangam Kanekar

Radiol Clin North Am. 2021 May;59(3):409-423. doi: 10.1016/j.rcl.2021.01.007.

ABSTRACT

Neoplastic meningitis (NM) and paraneoplastic syndromes (PNSs) are a rare group of disorders present in patients with cancer. Clinical diagnosis of these conditions is challenging, and imaging and laboratory analysis play a significant role in diagnosing. Diagnosis of NM largely depends on documenting circulating tumor cells in the cerebrospinal fluid (CSF) and/or leptomeningeal and nodular enhancement on contrast-enhanced MR imaging of the brain or axial spine. PNSs encompass a variety of symptoms or syndromes. Paraneoplastic neuronal disorder diagnosis requires a multidimensional approach, high clinical suspicion, CSF and serum examination, and imaging. Neuroimaging is an integral part in the evaluation.

PMID:33926686 | DOI:10.1016/j.rcl.2021.01.007

Permalink for 'The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals'

The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals

Fetched: May 1st, 2021, 5:01am GMT by Cristina Carrato

Int J Mol Sci. 2021 Apr 28;22(9):4629. doi: 10.3390/ijms22094629.

ABSTRACT

Biallelic germline mismatch repair (MMR) gene (MLH1, MSH2, MSH6, and PMS2) mutations are an extremely rare event that causes constitutional mismatch repair deficiency (CMMRD) syndrome. CMMRD is underdiagnosed and often debuts with pediatric malignant brain tumors. A high degree of clinical awareness of the CMMRD phenotype is needed to identify new cases. Immunohistochemical (IHC) assessment of MMR protein expression and analysis of microsatellite instability (MSI) are the first tools with which to initiate the study of this syndrome in solid malignancies. MMR IHC shows a hallmark pattern with absence of staining in both neoplastic and non-neoplastic cells for the biallelic mutated gene. However, MSI often fails in brain malignancies. The aim of this report is to draw attention to the peculiar IHC profile that characterizes CMMRD syndrome and to review the difficulties in reaching an accurate diagnosis by describing the case of two siblings with biallelic MSH6 germline mutations and brain tumors. Given the difficulties involved in early diagnosis of CMMRD we propose the use of the IHC of MMR proteins in all malignant brain tumors diagnosed in individuals younger than 25 years-old to facilitate the diagnosis of CMMRD and to select those neoplasms that will benefit from immunotherapy treatment.

PMID:33924881 | PMC:PMC8124255 | DOI:10.3390/ijms22094629

Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review

Fetched: May 1st, 2021, 5:01am GMT by Marco Ranalli

Diagnostics (Basel). 2021 Apr 2;11(4):647. doi: 10.3390/diagnostics11040647.

ABSTRACT

Brain tumors are the most common solid neoplasms of childhood. They are frequently reported in children with Neurofibromatosis type 1 (NF1). The most frequent central nervous system malignancies described in NF1 are optic pathway gliomas and brainstem gliomas. Medulloblastoma (MB) in NF1 patients is extremely rare, and to our knowledge, only 10 cases without molecular characterization are described in the literature to date. We report the case of a 14-year-old girl with NF1 that came to our attention for an incidental finding of a lesion arising from cerebellar vermis. The mass was completely resected, revealing a localized classic medulloblastoma (MB), subgroup 4. She was treated as a standard-risk MB with a dose-adapted personalized protocol. The treatment proved to be effective, with minor toxicity. Brain and spine MRI one year after diagnosis confirmed the complete remission of the disease. To our knowledge, this is the only case of MB reported in a patient with NF1 with molecular characterization by the methylation profile. The association between NF1 and MB, although uncommon, may not be an accidental occurrence.

PMID:33918520 | PMC:PMC8067061 | DOI:10.3390/diagnostics11040647

Tumor-Treating Fields Therapy for Pediatric Brain Tumors

Fetched: May 1st, 2021, 5:01am GMT by Atsushi Makimoto

Neurol Int. 2021 Apr 8;13(2):151-165. doi: 10.3390/neurolint13020015.

ABSTRACT

Tumor-treating fields (TTFields) are alternating electric fields applied continuously to the brain by attaching two-pair arrays on the scalp. Although TTFields therapy has demonstrated efficacy against supratentorial glioblastoma (GBM) in adults, its safety and efficacy in children have not been confirmed. Despite differences in the genetic etiology of the adult and pediatric forms of GBM, both have certain clinical behaviors in common, allowing us to test TTFields therapy in pediatric GBM. Recently, several, pediatric case-series using TTFields therapy have been published, and a few, prospective, pediatric studies are ongoing. Because GBMs are extremely rare in pediatric patients, where they comprise a wide variety of genetic subtypes, these pediatric studies are feasibility studies targeting various types of malignant brain tumor. Although they are important for confirming the safety and feasibility of TTFields therapy in the pediatric population, confirming its efficacy against each type of pediatric brain tumor, including the GBM, is difficult. Our clinical research team, therefore, planned an investigator-initiated clinical trial targeting pediatric supratentorial GBMs (as in adults) with the aim of expanding regulatory approval of TTFields therapy for pediatric GBM treatment based on safety and exploratory efficacy data in combination with the accumulated evidence on adult GBMs.

PMID:33917660 | DOI:10.3390/neurolint13020015

Rare Cancer News & Clinical Trials » PubMed - Rare Brain Tumor

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