Concomitant KIAA1549-BRAF fusion and IDH mutation in Pediatric spinal cord astrocytoma: a case report and literature review
AbstractPrimary tumors of the spinal cord are rare, accounting for 3 –6% of tumors in the central nervous system, particularly in children. KIAA1549-BRAF fusion is more common in pilocytic astrocytoma (PA) and IDH1 R132H mutation is rare in infratentorial tumors. Here, we report a 10-year-old male patient who presented with weakness in lower limbs that progressed t o difficulty walking. Magnetic resonance imaging (MRI) revealed an intramedullary solid-cystic lesion from the medulla oblongata to the thoracic spin 4 level, with the expansion of the spinal cord. The lesion exhibited patchy enhancement at C4-T1, indicating a...
Source: Brain Tumor Pathology - February 28, 2021 Category: Neurology Source Type: research
The proteomic analysis shows enrichment of RNA surveillance pathways in adult SHH and extensive metabolic reprogramming in Group 3 medulloblastomas
AbstractMedulloblastoma, a common malignant brain tumor in children, comprises four molecular subgroups WNT, SHH, Group 3, and Group 4. In the present study, we performed a deep proteome-based investigation of SHH, Group 3 and Group 4 tumors. The adult SHH medulloblastomas were found to have a distinct proteomic profile. Several RNA metabolism-related pathways including mRNA splicing, 5 ′ to 3′ RNA decay, 3′ to 5′ RNA decay by the RNA exosome, and the N6-methyladenosine modification of RNA were enriched in adult SHH tumors. The heightened expression of the RNA surveillance pathways is likely to be essential for the...
Source: Brain Tumor Pathology - January 12, 2021 Category: Neurology Source Type: research
Intracranial angiomatoid fibrous histiocytoma with rhabdoid features: a mimic of rhabdoid meningioma
AbstractAngiomatoid fibrous histiocytoma (AFH) is an uncommon soft-tissue neoplasm that arises mostly in the extremities of young people and generally carries a good prognosis. Intracranial location is unusual and frequently associated with myxoid change.EWSR1 gene fusions with members of theCREB family (CREB1, ATF1, andCREM) are well-established events in AFH. These fusions have also been described in other neoplasms including intracranial myxoid mesenchymal tumor, and it is still uncertain whether the latter is a distinct entity or if it represents a myxoid variant of AFH. Here, we describe a rare falcine AFH presenting ...
Source: Brain Tumor Pathology - January 12, 2021 Category: Neurology Source Type: research
Correction to: EZH2 inhibitory protein (EZHIP/Cxorf67) expression correlates strongly with H3K27me3 loss in posterior fossa ependymomas and is mutually exclusive with H3K27M mutations
In the original publication of the article, the middle name was missing in corresponding author ’s name. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - January 9, 2021 Category: Neurology Source Type: research
Prognostic significance of brain invasion in meningiomas: systematic review and meta-analysis
AbstractThe WHO 2016 classification introduced brain invasion as a standalone criterion for grade II meningioma (GIIM). We systematically reviewed studies published after 2000 and performed a PRISMA-compliant meta-analysis of the hazard ratios (HRs) for progression-free survival (PFS) between brain-invasive and noninvasive meningiomas. In five studies that included both benign and higher-grade meningiomas, brain invasion was a significant risk factor for recurrence (HR = 2.45,p = 0.0004). However, in 3 studies comparing “brain-invasive meningioma with otherwise benign histology (BIOB)” with grade I meningioma,...
Source: Brain Tumor Pathology - January 6, 2021 Category: Neurology Source Type: research
The molecular framework of pediatric-type diffuse gliomas: shifting toward the revision of the WHO classification of tumors of the central nervous system
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - January 5, 2021 Category: Neurology Source Type: research
Ependymoma with C11orf95-MAML2 fusion: presenting with granular cell and ganglion cell features
AbstractC11orf95-RELA fusion or, less frequently,YAP1 fusion is recurrently detected in most cases of supratentorial ependymoma. Other fusions have rarely been reported in some cases of supratentorial ependymoma, and little is known about their pathological or clinical features. Here, we present a case of supratentorial ependymoma with unusual pathological findings andC11orf95-MAML2 fusion. A 23-year-old man was admitted to our hospital because of headache and vomiting. Magnetic resonance imaging revealed a cystic lesion in the right frontal lobe, and gross total resection of the tumor was performed. Pathologically, the tu...
Source: Brain Tumor Pathology - November 22, 2020 Category: Neurology Source Type: research
EZH2 inhibitory protein (EZHIP/Cxorf67) expression correlates strongly with H3K27me3 loss in posterior fossa ependymomas and is mutually exclusive with H3K27M mutations
AbstractThe PFA molecular subgroup of posterior fossa ependymomas (PF-EPNs) shows poor outcome. H3K27me3 (me3) loss by immunohistochemistry (IHC) is a surrogate marker for PFA wherein its loss is attributed to overexpression of Cxorf67/EZH2 inhibitory protein (EZHIP), C17orf96, and ATRX loss. We aimed to subgroup PF-EPNs using me3 IHC and study correlations of the molecular subgroups with other histone related proteins, 1q gain, Tenascin C and outcome. IHC for me3, acetyl-H3K27, H3K27M, ATRX, EZH2, EZHIP, C17orf96, Tenascin-C, and fluorescence in-situ hybridisation for chromosome 1q25 locus were performed on an ambispec...
Source: Brain Tumor Pathology - November 1, 2020 Category: Neurology Source Type: research
Genetic characterization of an aggressive optic nerve pilocytic glioma
AbstractOptic nerve glioma (ONG) is a rare, typically slow-growing WHO I grade tumor that affects the visual pathways. ONG is most commonly seen in the pediatric population, in association with neurofibromatosis type 1 syndrome. However, sporadic adult cases may also occur and may clinically behave more aggressively, despite benign histopathology. Genetic characterization of these tumors, particularly in the adult population, is lacking. A 39-year-old female presented with 1 month of progressive left-sided visual loss secondary to a enhancing mass along the left optic nerve sheath. Initial empiric management with focal rad...
Source: Brain Tumor Pathology - October 24, 2020 Category: Neurology Source Type: research
Clinicopathologic significance of MYD88 L265P mutation and expression of TLR4 and P-STAT3 in primary central nervous system diffuse large B-cell lymphomas
AbstractPatients with primary central nervous system lymphoma (PCNSL) have a prognosis poorer than that of systemic lymphoma patients. In patients with this condition, TLR4/STAT3 pathway alterations and the MYD88 L265P mutation may be viable targets for therapeutic intervention. The present study was, therefore, designed to identify clinicopathologic correlates of MYD88 mutations and TLR4/STAT3 pathway alterations in PCNSL. We detected TLR4 and p-STAT3 in 41.5% (22/53) and 43.4% (23/53) of PCNSL patients, respectively, while 60.4% of these patients (32/53) were found to harbor the MYD88 L265P mutation. TLR4 expression was ...
Source: Brain Tumor Pathology - October 20, 2020 Category: Neurology Source Type: research
Masked malignant phenotype with a benign appearance: beat-up copy number profile may be the key for hemangioblastoma dissemination
AbstractDissemination of histologically benign hemangioblastoma is rare; approximately 30 cases have previously been reported, and all cases occurred several months to years after surgical resection. Herein, we report a case of hemangioblastoma in which leptomeningeal dissemination occurred 2 years after hypofractionated radiation therapy (39 Gy/13 fractions). The tumor was treated primarily with radiation without surgical resection. Biopsy of the disseminated lesion confirmed histological diagnosis as histologically benign hemangioblastoma. Ki67 index was not remarkably elevated for hemangioblastomas. In addition, the ...
Source: Brain Tumor Pathology - October 18, 2020 Category: Neurology Source Type: research
Masked malignant phenotype with a benign appearance beat-up copy number profile may be the key for hemangioblastoma dissemination
AbstractDissemination of histologically benign hemangioblastoma is rare; approximately 30 cases have previously been reported, and all cases occurred several months to years after surgical resection. Herein, we report a case of hemangioblastoma in which leptomeningeal dissemination occurred 2 years after hypofractionated radiation therapy (39 Gy/13 fractions). The tumor was treated primarily with radiation without surgical resection. Biopsy of the disseminated lesion confirmed histological diagnosis as histologically benign hemangioblastoma. Ki67 index was not remarkably elevated for hemangioblastomas. In addition, the ...
Source: Brain Tumor Pathology - October 18, 2020 Category: Neurology Source Type: research
Methylation profiling-based diagnosis of radiologically suspected congenital glioma
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - October 16, 2020 Category: Neurology Source Type: research
H3 G34-mutant high-grade glioma
In conclusion,H3.3 G34-mutant gliomas were unique HGGs with uniform genetic and epigenetic abnormalities, which suggested a single phylogenic origin. The median survival ofH3.3 G34-mutant HGGs was better than those ofIDH-wildtype GBMs andH3 K27M-mutant DMGs, but worse than that ofIDH-mutant GBM. The tumor-infiltrating area and resectability may be the crucial parameters for the prognosis of the patients. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - September 28, 2020 Category: Neurology Source Type: research
Reduced H3K27me3 levels in diffuse gliomas: association with 1p/19q codeletion and difference from H3K27me3 loss in malignant peripheral nerve sheath tumors
In conclusion, reduction in H3K27me3 levels was associated with 1p/19q codeletion in diffuse gliomas; however, the exten t of reduction differed from that in MPNSTs, and the results depended on the immunostaining conditions. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - September 27, 2020 Category: Neurology Source Type: research
