Gliosarcomas with the BRAF V600E mutation: a report of two cases and review of the literature

J Clin Pathol. 2017 Dec;70(12):1079-1083. doi: 10.1136/jclinpath-2017-204620. Epub 2017 Aug 3.


Gliosarcoma, which is regarded as a variant of glioblastoma, is a rare malignant neoplasm of the central nervous system. Both its sarcomatous component and glial component are reported to share significant clinical and genetic similarities. However, gliosarcomas are considered to be characterised by a lack of the BRAF V600E mutation. Here, we report two cases of gliosarcoma harbouring the BRAF V600E mutation, of which one case appears to have arisen de novo, while the other likely arose from ganglioglioma. Interestingly, the BRAF V600E mutation was detected only in the glial component in the first case, but was present in both the glial and the sarcomatous components in the recurrent gliosarcoma. Furthermore, the different mutation state of BRAF V600E in our two cases suggests that the malignant transformation of gliosarcoma might have different underlying genetic alterations and mechanisms in de novo versus recurrent gliosarcoma.

Keywords: BRAF V600E; IDH mutation; glioblastoma; gliosarcoma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Biomarkers, Tumor / genetics*
  • Biopsy
  • Brain Neoplasms / enzymology
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Brain Neoplasms / therapy
  • DNA Mutational Analysis
  • Disease Progression
  • Fatal Outcome
  • Female
  • Ganglioglioma / enzymology
  • Ganglioglioma / genetics*
  • Ganglioglioma / pathology
  • Ganglioglioma / therapy
  • Genetic Predisposition to Disease
  • Gliosarcoma / enzymology
  • Gliosarcoma / genetics*
  • Gliosarcoma / pathology
  • Gliosarcoma / therapy
  • Humans
  • Immunohistochemistry
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation*
  • Neoplasm Recurrence, Local
  • Phenotype
  • Proto-Oncogene Proteins B-raf / genetics*
  • Treatment Outcome


  • Biomarkers, Tumor
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf