Gliosarcomas with the BRAF V600E mutation: a report of two cases and review of the literature
Gliosarcomas with the BRAF V600E mutation: a report of two cases and review of the literature
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DOI：
10.1136/jclinpath-2017-204620
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发表时间：
2017-12-01
影响因子：
3.4
通讯作者：
Lu, Dehong
中科院分区：
文献类型：
--
作者：
Wang, Leiming;Sun, Jian;Lu, Dehong
胶质肉瘤是一种罕见的中枢神经系统恶性肿瘤，被认为是胶质母细胞瘤的一种变体。据报道，其肉瘤成分和神经胶质成分具有显著的临床和遗传相似性。然而，胶质瘤被认为是以缺乏BRAF V600E突变为特征。在这里，我们报告两例胶质肉瘤窝藏BRAF V600E突变，其中一个案件似乎已经出现从头，而另一个可能产生的神经节胶质瘤。有趣的是，BRAF V600E突变在第一个病例中仅在神经胶质成分中检测到，但在复发性神经胶质肉瘤的神经胶质和肉瘤成分中都存在。此外，在我们的两个病例中BRAF V600 E的不同突变状态表明，胶质肉瘤的恶性转化可能有不同的潜在的遗传改变和机制，在新发和复发胶质肉瘤。
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.