ATRX status correlates with 11  C-methionine uptake in WHO grade II and III gliomas with IDH1 mutations
This study was designed to determine whether ATRX status correlates with uptake of11C-methionine in WHO grades II and III gliomas. Sixty-two patients underwent11C-methionine positron emission tomography scans prior to histological diagnosis. The tumor-to-normal ratio (T/N) of11C-methionine uptake was calculated by dividing the maximum standardized uptake value (SUV) for the tumor by the mean SUV of the normal brain. After surgery, tumor samples were subjected to immunohistochemistry for ATRX and IDH1-R132H followed byIDH1/2 sequencing. Twenty-seven of the sixty-two patients were found to have theIDH mutation. Nine of the t...
Source: Brain Tumor Pathology - February 28, 2017 Category: Neurology Source Type: research

The clinicopathological features of liponeurocytoma
AbstractTo discuss the clinicopathological features of liponeurocytoma, we retrospectively reviewed three liponeurocytoma cases and compared their immunophenotypes and genotypes with those of similar tumors. Furthermore, we reviewed the literature and compared the similarities and differences between cerebellar and intraventricular liponeurocytomas. Two cerebellar and one intraventricular liponeurocytomas were included in the present study. The liponeurocytomas comprised small tumor cells and lipomatous cells. The tumor cells expressed SYN, MAP-2, and NeuN. One case showed atypical histological features. By reviewing the l...
Source: Brain Tumor Pathology - February 23, 2017 Category: Neurology Source Type: research

Erratum to: Development of a robust and sensitive pyrosequencing assay for the detection of IDH1 / 2 mutations in gliomas
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - February 13, 2017 Category: Neurology Source Type: research

Molecular mechanisms involved in gliomagenesis
AbstractThe application of molecular parameters in the World Health Organization classification of central nervous system tumors has advanced remarkably in this field. Large-scale genomic DNA analyses, including gene expression profiling, genome-wide association studies, and single-nucleotide polymorphism analysis, have revealed differences between tumors with the same pathological features. Because mutated genes and their signaling pathways can be targets for therapy, categorizing tumors by molecular parameters facilitates the selection of optimal therapeutic methods. Many genes are either oncogenes or tumor suppressor ge...
Source: Brain Tumor Pathology - January 22, 2017 Category: Neurology Source Type: research

Prevalence of NRAS, PTEN and AKT1 gene mutations in the central nervous system metastases of non-small cell lung cancer
AbstractSomatic mutations inNRAS, PTEN andAKT1 genes are rarely (~1%) reported in primary NSCLC, but their role in carcinogenesis have been proven. Therefore, we assessed the frequency of them in 145 FFPE tissue samples from CNS metastases of NSCLC using the real-time PCR technique. We identified four (twoNRAS and singleAKT1 andPTEN) mutations in CNS metastases of NSCLC. All mutations were observed in current male smokers (4% out of the male group; 4/100 and 4.25% out of smokers; 4/94). Three mutations have been detected in patients with SqCC (10.3% out of SqCC patients; 3/29), and only one mutation in theNRAS gene —in a...
Source: Brain Tumor Pathology - January 16, 2017 Category: Neurology Source Type: research

Histopathologic diagnosis of brain metastases: current trends in management and future considerations
This article aims to review the anatomopathological diagnostic approach for BM in the age of targeted therapies. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - November 21, 2016 Category: Neurology Source Type: research

Granular cells in oligodendroglioma suggest a neoplastic change rather than a reactive phenomenon: case report with molecular characterisation
We describe a case of oligodendroglioma with granular cells, in which we have attempted to molecularly characterise the granular cells. These granules were stained blue on Luxol fast blue and red on Masson ’s trichrome. The cells showed a distinct pattern of immunoreactivity to GFAP andIDH1. In addition, they exhibited mitotic activity and increased Ki-67 labelling. Molecularly, both the granular cells and classical oligodendroglial cells in the tumor showed 1p/19q co-deletion which is the diagnostic hallmark of an oligodendroglioma. Thus, we opine that granular cells are neoplastic and represent a morphological variant ...
Source: Brain Tumor Pathology - October 12, 2016 Category: Neurology Source Type: research

Concordance analysis and diagnostic test accuracy review of IDH1 immunohistochemistry in glioblastoma
AbstractThe study investigated isocitrate dehydrogenase (IDH) 1 immunohistochemistry (IHC) positive rate and concordance rate between IDH1 IHC and molecular test in glioblastoma. The current study included 1360 glioblastoma cases from sixteen eligible studies. Meta-analysis, including subgroup analysis by antibody clones and cut-off values, for IDH1 IHC positive rate was conducted. In addition, we performed a concordance analysis and diagnostic test accuracy review between IDH1 IHC and molecular tests. The estimated rates of IDH1 IHC were 0.106 [95  % confidence interval (CI) 0.085–0.132]. The IDH1 IHC positive rate of ...
Source: Brain Tumor Pathology - September 15, 2016 Category: Neurology Source Type: research

Genetic landscape of meningioma
AbstractMeningioma is the most common intracranial tumor, arising from arachnoid cells of the meninges. Monosomy 22 and inactivating mutations ofNF2 are well-known genetic alterations of meningiomas. More recently, mutations inTRAF7,AKT1,KLF4,SMO, andPIK3CA were identified by next-generation sequencing. We here reviewed 553 meningiomas for the mutational patterns of the six genes.NF2 aberration was observed in 55  % of meningiomas. Mutations ofTRAF7,AKT1,KLF4,PIK3CA, andSMO were identified in 20, 9, 9, 4.5, and 3  % of cases, respectively. Altogether, 80 % of cases harbored at least one of the genetic alterations in the...
Source: Brain Tumor Pathology - September 12, 2016 Category: Neurology Source Type: research

A case of papillary tumor of the pineal region with a long clinical history: molecular characterization and therapeutic consideration with review of the literature
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - July 28, 2016 Category: Neurology Source Type: research

Letter to the Editor: regarding “Lipomatous ependymoma: report of a rare differentiation pattern with a comprehensive review of literature”
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - July 4, 2016 Category: Neurology Source Type: research

WHO ’s arrived in 2016! An updated weather forecast for integrated brain tumor diagnosis
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - June 30, 2016 Category: Neurology Source Type: research

Sarcoma-like tumor originating from oligodendroglioma
We present a case of sarcoma occurring at a site of resected oligodendroglioma without preceding radiotherapy or chemotherapy. Oligosarcoma occurring at sites of resected oligodendroglioma or anaplastic oligodendroglioma with sarcomatous components are rare. Although meningioma or sarcoma-like lesions are sometimes reported after glioma-targeted radiotherapy, those without preceding radiotherapy are quite rare. Moreover, cases of sarcoma without oligodendroglial components occurring at a site of resected oligodendroglioma have never been reported. In this case, fluorescent in situ hybridization analysis revealed 1p/19q co-...
Source: Brain Tumor Pathology - June 21, 2016 Category: Neurology Source Type: research

Atypical teratoid/rhabdoid tumors with multilayered rosettes in the pineal region
Abstract Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly malignant tumor of the central nervous system (CNS) that typically occurs during infancy. These tumors exhibit morphologic heterogeneity and differentiate along multiple lineages, thus posing a diagnostic challenge. Here, we present two cases of AT/RT with a primitive neuroectodermal component and histological pattern resembling an embryonal tumor with multilayered rosettes (ETMR), a rare but distinctive embryonal entity with different therapeutic implications. Patient 1, a 23-month-old girl, presented with a history of gait unsteadiness ...
Source: Brain Tumor Pathology - June 14, 2016 Category: Neurology Source Type: research

Cancer metabolism as a central driving force of glioma pathogenesis
Abstract The recent identification of distinct genetic and epigenetic features in each glioma entity is leading to a multilayered, integrated diagnostic approach combining histologic features with molecular genetic information. Somatic mutations in isocitrate dehydrogenase (IDH) and receptor tyrosine kinase (RTK) pathways are key oncogenic events in diffuse gliomas, including lower grade (grade II and III) gliomas (LGG) and the highly lethal brain tumor glioblastoma (GBM), respectively, where they reprogram the epigenome, transcriptome, and metabolome to drive tumor growth. However, the mechanisms by whic...
Source: Brain Tumor Pathology - June 12, 2016 Category: Neurology Source Type: research