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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Concurrent TERT promoter and BRAF V600E mutation in epithelioid glioblastoma and concomitant low-grade astrocytoma
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Concurrent TERT promoter and BRAF V600E mutation in epithelioid glioblastoma and concomitant low-grade astrocytoma

机译：上皮胶质母细胞瘤中的并发Tert启动子和BRAF V600E突变和伴随的低级星形细胞瘤

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摘要

Epithelioid glioblastoma (E-GBM) is a rare variant of glioblastoma (GBM), characterized by epithelioid cells with eosinophilic round cytoplasm devoid of stellate cytoplasmic processes. A number of studies have demonstrated that more than half of E-GBMs harbor a valine to glutamic acid substitution at position 600 of the serine/threonine-protein kinase BRAF (BRAF V600E). However, there are no previous reports on E-GBM with telomerase reverse transcriptase (TERT) promoter mutation in addition to BRAF V600E mutation. Here, we report an E-GBM case in an 18-year-old man with BRAF V600E and TERT promoter mutations. The tumor composed of 80% E-GBM and 20% diffuse astrocytoma-like components, and BRAF V600E and TERT promoter mutations were detected in both. E-GBM generally arises as a primary lesion; however, a few previous cases have been demonstrated to accompany low-grade areas. Demonstration of concurrent BRAF V600E and TERT promoter mutations in low- and high-grade lesions strongly suggested their identical origin, and acquisition of each mutation may be an early event, possibly playing a pivotal role in the genesis and subsequent progression to E-GBM.
机译：上皮胶质母细胞瘤（E-GBM）是胶质母细胞瘤（GBM）的罕见变体，其特征在于具有嗜酸性圆形细胞质的上皮细胞，具有星状细胞质过程。许多研究表明，超过一半的E-GBMS含量在丝氨酸/苏氨酸 - 蛋白激酶BRAF（BRAF V600E）的位置600处含有谷氨酸取代。然而，除了BRAF V600E突变之外，还没有关于E-GBM的关于E-GBM的报道。在这里，我们在一个18岁的男性中向BRAF V600E和TERT启动子突变举报的E-GBM案例。在两者中检测到由80％E-GBM和20％弥漫性星形细胞瘤组成的肿瘤组成，以及BRAF V600E和TERT启动子突变。 E-GBM通常是主要病变;然而，已经证明了以下几种病例伴随着低级区域。在低级和高级病变中的并发BRAF V600E和TERT启动子突变的证明强烈建议它们的相同来源，并且对每个突变的获取可能是早期事件，可能在成因中发挥关键作用和随后对E-GBM的进展。

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