Clinical and radiological findings of glioblastomas harboring a BRAF V600E mutation

Brain Tumor Pathol. 2022 Jul;39(3):162-170. doi: 10.1007/s10014-022-00432-7. Epub 2022 Apr 1.

Abstract

The aim of this study was to analyze the clinical and radiological characteristics of glioblastomas (GBMs) harboring a BRAF mutation. Sequencing analysis of BRAF, IDH1/2, and TERT promoters was performed on GBM samples of patients older than 15 years. The clinical, pathological, and radiological data of patients were retrospectively reviewed. Patients were classified into three groups according to their BRAF and IDH1/2 status: BRAF group, IDH group, and BRAF/IDH-wild-type (WT) group. Among 179 GBM cases, we identified nine cases with a BRAF mutation and nine with IDH mutation. The WT group had 161 cases. Age at onset in the BRAF group was significantly lower compared to the WT group and was similar to the IDH group. In cases with negative IDH1-R132H staining and age < 55 years, 15.2% were BRAF-mutant cases. Similar to the IDH group, overall survival of the BRAF group was significantly longer compared with the WT group. Among nine cases in the BRAF group, three cases had hemorrhagic onset and prior lesions were observed in two cases. In conclusion, age < 55 years, being IDH1-R132H negative, with hemorrhagic onset or the presence of prior lesions are factors that signal recommendation of BRAF analysis for adult GBM patients.

Keywords: BRAF V600E; Glioblastoma; IDH1/2; MRI.

MeSH terms

  • Adult
  • Brain Neoplasms* / diagnostic imaging
  • Brain Neoplasms* / enzymology
  • Brain Neoplasms* / genetics
  • Glioblastoma* / diagnostic imaging
  • Glioblastoma* / enzymology
  • Glioblastoma* / genetics
  • Humans
  • Isocitrate Dehydrogenase / genetics
  • Isocitrate Dehydrogenase / metabolism
  • Middle Aged
  • Mutation
  • Proto-Oncogene Proteins B-raf* / genetics
  • Proto-Oncogene Proteins B-raf* / metabolism
  • Retrospective Studies

Substances

  • Isocitrate Dehydrogenase
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf