World Journal of Surgical Oncology · 2015 · 24 citations · 11 references
MedicineGeneticsOncologyMolecular OncologyNeoplasiaNeuro-oncologyBrain TumorsGlioblastomaMalignant TumorsMolecular Classification Of TumorsNeuro-oncologic PathologyNext-generation Sequencing In OncologyBraf V600 MutationsBraf V600e MutationClinical Next-generation SequencingGlioblastoma Molecular SubtypesGlioblastoma PathologyHistopathology Of Brain Tumors
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.
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Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas
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