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.
- BRAF V600E
- IDH mutation
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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.001).
Provenance and peer review Not commissioned; externally peer reviewed.