Abstract
The B-Raf proto-oncogene serine/threonine kinase (B-Raf) is a member of the Raf kinase family. The BRAF V600E mutation occurs frequently in certain brain tumors such as pleomorphic xanthoastrocytoma, ganglioglioma, and pilocytic astrocytoma, and less frequently in epithelioid and giant cell glioblastoma. BRAF V600E mutation in these cases has been canonically detected using Sanger sequencing or immunohistochemistry but not with next-generation sequencing (NGS). Moreover, to our knowledge, there is no detailed report of the BRAF V600E mutation in an adult glioblastoma with classical histologic features (c-GBM). Therefore, we performed NGS analysis to determine the mutational status of BRAF of 13 glioblastomas (GBMs) (11 primary and 2 secondary cases) and detected one tumor harboring the BRAF V600E mutation. We report here the detection of the BRAF V600E mutation in a patient with c-GBM and describe the patient’s clinical course as well as the results of histopathological analysis.
Highlights
The B-Raf proto-oncogene serine/threonine kinase (BRaf ) is a strong activator of the extracellular signalregulated kinase/mitogen-activated protein kinase 1 and 2 (Erk 1/2) signal transduction cascade that mediates cell proliferation [1]
Most BRAF mutations occur at codon 600, which resides within the activation loop of the kinase domain, and 80% to 90% of these mutations generate a protein with a glutamic acid (E) residue substituted for the normal valine (V) residue (BRAF V600E)
The BRAF V600E mutation may occur at low frequency in adult classical glioblastoma (c-GBM)
Summary
The B-Raf proto-oncogene serine/threonine kinase (BRaf ) is a strong activator of the extracellular signalregulated kinase/mitogen-activated protein kinase 1 and 2 (Erk 1/2) signal transduction cascade that mediates cell proliferation [1]. * Correspondence: yosinobu@hokuto7.or.jp 1Department of Neurosurgery, Hokuto Hospital, 7-5, Inada, Obihiro, Hokkaido 080-0039, Japan 3Department of Biology and Genetics, Laboratory of Cancer Medical Science, Hokuto Hospital, 7-5, Inada, Obihiro, Hokkaido 080-0039, Japan Full list of author information is available at the end of the article classical glioblastoma (c-GBM) with the BRAF V600E mutation lack detailed characterization of the tumors. We present the first report, to our knowledge, that combines histopathological, immunohistochemical, and next-generation sequencing (NGS) analyses of c-GBM with the BRAF V600E mutation.
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