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Gliosarcomas with the BRAF V600E mutation: a report of two cases and review of the literature
  1. Leiming Wang1,
  2. Jian Sun2,
  3. Zhuo Li1,
  4. Li Chen1,
  5. Yongjuan Fu1,
  6. Lihong Zhao1,
  7. Li Liu1,
  8. Yukui Wei3,
  9. Lianghong Teng1,
  10. Dehong Lu1
  1. 1 Department of Pathology, Xuanwu Hospital Capital Medical University, Beijing, China
  2. 2 Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, China
  3. 3 Department of Neurosurgery, Xuanwu Hospital Capital Medical University, Beijing, China
  1. Correspondence to Lianghong Teng, Department of Pathology, xuanwu hospital, Beijing, China; tenglh2012{at}163.com

Abstract

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.

  • gliosarcoma
  • BRAF V600E
  • glioblastoma
  • IDH mutation

https://doi.org/10.1136/jclinpath-2017-204620

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    Footnotes

    • LT and DL contributed equally.

    • Handling editor Tahir S Pillay

    • Contributors LW and JS performed the experiments and analysed the data. ZL, LL, LZ and YW provided essential material. LT and DL designed the experiments. LW and LT wrote the draft of the manuscript. LC and YF critically reviewed the manuscript. All authors approved the final version of the manuscript.

    • Funding This work was supported by Beijing Excellent Talent Training Project Grant (201600026833ZK07) and National Natural Science Foundation of China (81401040).

    • Competing interests None declared.

    • Ethics approval Ethics approval was obtained from the ethics committee of Xuanwu Hospital (No.[2017]001).

    • Provenance and peer review Not commissioned; externally peer reviewed.