Central nervous system high grade neuroepithelial tumor with BCOR immunopositivity: Is there a molecular heterogeneity?
We describe four cases of high grade neuroepithelial tumor with BCOR immunopositivity which were diagnosed over a period of one year at our institute. Amongst these, only one tumor revealed BCOR-ITD on sequencing. SATB2 immunopositivity which is a sensitive marker of BCOR-ITD, BCOR fusions and YWHAE fusions was noted in three out of four cases. Our study suggests that BCOR immunopositive CNS high grade tumors are molecularly heterogeneous and could harbour genetic alterations other than BCOR-ITD (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - September 26, 2020 Category: Neurology Source Type: research
Frequency of mismatch repair protein deficiency and PD-L1 in high-grade gliomas in adolescents and young adults (AYA)
AbstractCentral nervous system tumors in adolescents and young adults (AYA) are rarely reported in the literature. The association with cancer predisposition syndrome is not established. Programmed death ligand 1 (PD-L1) can predict the potential response of patients to immunotherapy. A link between mismatch repair protein deficiency (MMRP-D) and response to immunotherapy is established. P53 is reported to be positive in MMRD-D cases. We aim to investigate the frequency of MMRP-D in AYA with high-grade glioma and any potential association with PD-L1. A total of 96 cases were tested including 49 (51.0%) cases of glioblastom...
Source: Brain Tumor Pathology - September 7, 2020 Category: Neurology Source Type: research
Reviewers in 2020
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - September 2, 2020 Category: Neurology Source Type: research
Glioblastomas harboring gene fusions detected by next-generation sequencing
AbstractOncogenic gene fusions have been reported in diffuse gliomas and may serve as potential therapeutic targets. Here, using next-generation sequencing analysis (Illumina TruSight Tumor 170 panel), we analyzed a total of 356 diffuse gliomas collected from 2017 to 2019 to evaluate clinical, pathological, and genetic features of gene fusion. We found 53 cases of glioblastomas harboring the following oncogenic gene fusions:MET (n = 18),EGFR (n = 14),FGFR (n = 12),NTRK (n = 5),RET (n = 2),AKT3 (n = 1), andPDGFRA fusions (n = 1). Gene fusions were consistently observed in bothIDH-wildtype andIDH-...
Source: Brain Tumor Pathology - August 5, 2020 Category: Neurology Source Type: research
RELA fusion-positive ependymoma accompanied by extensive desmoplasia: a case report
We report a case of 33-year-old Japanese male who presented with a headache and visual disturbances. Magnetic resonance imaging revealed a large tumor in the left frontal lobe, measuring 7 cm in diameter, which was diagnosed as supratentorial anaplastic ependymoma accompanied by extensive desmoplasia. The patient underwent a gross total resection. Histologically, the tumor cells had oval or short, spindle-shaped nuclei, and proliferating cells in perivascular pseudorosettes with anu cleate zones and mitotic figures. Desmoplasia with abundant collagen fibers among the tumor cells was detected at numerous sites, and perinu...
Source: Brain Tumor Pathology - August 3, 2020 Category: Neurology Source Type: research
Highly sensitive detection of TERT promoter mutations in recurrent glioblastomas using digital PCR
AbstractTelomerase reverse transcriptase promoter (TERTp) hotspot mutations are the most frequent mutations in primary glioblastomas (GBM). Previous studies have shown that the combination ofTERTp and isocitrate dehydrogenase (IDH) status may serve as a useful diagnostic marker for oligodendroglioma and glioblastoma. In oligodendrogliomas,TERTp andIDH mutations, along with the 1p/19q codeletion, usually coexist and are likely to be founder mutations. However, in contrast to oligodendroglioma, the role of theTERTp status in GBM remains obscure. Here, we used Sanger sequencing, pyrosequencing, and digital PCR (dPCR) to exami...
Source: Brain Tumor Pathology - August 3, 2020 Category: Neurology Source Type: research
A dedifferentiated intracranial solitary fibrous tumor with osteosarcoma components: rapid tumor progression and lethal clinical course
AbstractSolitary fibrous tumor/hemangiopericytoma is a mesenchymal tumor that originates from a commonNAB2 –STAT6 fusion gene and is known to very rarely demonstrate dedifferentiation in the pattern of local recurrence or distant metastasis. Here we describe for the first time a rare case of intracranial dedifferentiated solitary fibrous tumor/hemangiopericytoma with osteosarcoma components that developed in an 84-year-old man after frequent gamma knife radiosurgery over a 14-year period. We performed tumor-debulking and gamma knife radiosurgery, but unfortunately the patient died shortly after the development of dediffe...
Source: Brain Tumor Pathology - August 1, 2020 Category: Neurology Source Type: research
Primary central nervous system lymphomas associated with chronic inflammation: diagnostic pitfalls of central nervous system lymphomas
AbstractIn recent years, the features of lymphomas associated with chronic inflammation, referred to as diffuse large B-cell lymphoma (DLBCL) associated with chronic inflammation (DLBCL-CI), have been elucidated. DLBCL-CI is an aggressive lymphoma occurring in the context of long-standing chronic inflammation and showing an association with Epstein –Barr virus. Fibrin-associated diffuse large B-cell lymphoma (F-DLBCL) was suggested as a new and unusual form of DLBCL-CI in the most recent version of the World Health Organization classification. From the perspective of genetics, DLBCL-CI was associated with frequentTP53 mu...
Source: Brain Tumor Pathology - July 4, 2020 Category: Neurology Source Type: research
Central nervous system neuroepithelial tumors with MN1 -alteration: an individual patient data meta-analysis of 73 cases
AbstractMN1 alteration characterizes a recently described group of neuroepithelial tumors with varied morphological features. In cIMPACT-NOW update 6, only those with astroblastoma morphology has been accepted as a newly recognized tumor type, whereas the rest of morphological variants are considered lesions sub-judice. We perform an individual patient data meta-analysis ofMN1-altered neuroepithelial tumors comprising a total of 73 cases, in order to study the survival data and predictive markers for better diagnosis and management of this rare molecular entity. The 5- and 10-year progression-free survival are 38% and 0%, ...
Source: Brain Tumor Pathology - June 28, 2020 Category: Neurology Source Type: research
Central nervous system ganglioneuroblastoma harboring MYO5A-NTRK3 fusion
AbstractCentral nervous system (CNS) ganglioneuroblastoma is a rare neuroectodermal neoplasm and little is known about its clinical and biological features. Herein, we report a pediatric case of CNS ganglioneuroblastoma harboringMYO5A-NTRK3 fusion. The patient, a 4-year-old boy, underwent a partial resection of a supratentorial tumor that was histopathologically diagnosed as a CNS ganglioneuroblastoma. Treatment with radiotherapy was started per the St Jude Medulloblastoma 03 (SJMB03) protocol; however, the tumor progressed rapidly and radiotherapy was temporally discontinued. Meanwhile, the patient underwent a second surg...
Source: Brain Tumor Pathology - June 17, 2020 Category: Neurology Source Type: research
Central nervous system neuroblastic tumor with FOXR2 activation presenting both neuronal and glial differentiation: a case report
AbstractA subset of central nervous system neuroblastomas (CNS NB), rare primary embryonal CNS tumors, has been encompassed in CNS NB withFOXR2 activation (CNS NB-FOXR2) and usually shows the primitive neuronal architecture and occasional neurocytic differentiation. Here, we report a rare case of 3-year-old female with uncommon morphology of CNS embryonal tumor withFOXR2 activation presenting bidirectional differentiation to neurocytic small primitive cells and astrocytic spindle cells both of which are positive for synaptophysin and GFAP. Ultrastructural study also showed that there were presynaptic structure and intermed...
Source: Brain Tumor Pathology - June 12, 2020 Category: Neurology Source Type: research
Prognostic role of H3K27M mutation, histone H3K27 methylation status, and EZH2 expression in diffuse spinal cord gliomas
The objective of this study is to clarify clinical significance of theH3F3A K27M mutation (H3K27M) and analyze the correlation between H3K27M, H3K27me3 status, and EZH2 expression and prognosis in spinal cord gliomas. Patients with spinal cord diffuse glioma regardless of World Health Organization (WHO) grade underwent genetic analysis forH3F3A, HIST1H3B,TERT promoter,IDH1/2, andBRAF. H3K27me3 status and EZH2 expression were analyzed through immunohistochemistry. Thereafter, the association between H3K27M, H3K27me3 status, and EZH2 expression and prognosis was retrospectively analyzed using the log-rank test. A total of 26...
Source: Brain Tumor Pathology - June 10, 2020 Category: Neurology Source Type: research
A rare case of oligodendroglioma with gangliocytic differentiation in a 31-year-old male: importance of genetic testing for IDH1/2
We report a rare case of oligodendroglioma with gangliocytic differentiation. A 31-year-old male without a past medical history was admitted with a sudden seizure. On magnetic resonance imaging, an approximately 7-cm mass with necrosis was noted in the right frontal lobe. The patient underwent surgical resection. On microscopy, two morphologically distinct areas with oligodendroglioma- and ganglioglioma-like features were found. Immunohistochemistry showed an absence of CD34 expression, whereas isocitrate dehydrogenase 1 (IDH1) was positive in the glial component. Moreover, IDH1 was positive in the ganglion-like cells as w...
Source: Brain Tumor Pathology - June 4, 2020 Category: Neurology Source Type: research
Intravascular carcinomatosis of the brain: a report of two cases
We report two cases of brain metastasis in which tumor cells were restricted to the vascular lumina without parenchymal involvement, resulting in ischemic lesions. The first patient is a previously healthy young woman who presented with symptoms of community-acquired pneumonia and progressed to respiratory failure. Computed tomography of the brain showed infarcts of differing ages. At autopsy, she was found to have widely metastatic cervical squamous cell carcinoma and cerebral tumor emboli with multifocal infarcts, mainly microinfarcts. The second patient is an elderly man with cognitive impairment and mild Parkinsonism w...
Source: Brain Tumor Pathology - May 31, 2020 Category: Neurology Source Type: research
Diffuse midline glioma of the cervical spinal cord with H3 K27M genotype phenotypically mimicking anaplastic ganglioglioma: a case report and review of the literature
AbstractHere, we report on a 28-year old male patient presenting with neck and shoulder pain, dysesthesia of all four limbs and hypesthesia of both hands, without motor deficits. Magnetic resonance imaging showed an intradural, intramedullary mass of the cervical spinal cord of 6.4 cm length and 1.7 cm diameter. The patient underwent surgical resection. Histological and immunohistochemical evaluation showed pleomorphic glial tumor cells, mitoses, calcifications, and atypical ganglioid cells compatible with the morphology of anaplastic ganglioglioma (WHO Grade III). Extensiv e molecular workup revealedH3F3A K27M, TERT C2...
Source: Brain Tumor Pathology - May 24, 2020 Category: Neurology Source Type: research
