Cerebellar high-grade gliomas do not present the same molecular alterations as supratentorial high-grade gliomas and may show histone H3 gene mutations
Cerebellar high-grade gliomas do not present the same molecular alterations as supratentorial high-grade gliomas and may show histone H3 gene mutations
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DOI：
10.5414/np301104
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发表时间：
2018-09-01
影响因子：
1.1
通讯作者：
Varlet, Pascale
中科院分区：
文献类型：
--
作者：
Tauziede-Espariat, Arnault;Saffroy, Raphael;Varlet, Pascale
在幕上高级神经胶质瘤中已经描述了许多分子改变（1p19q 共缺失、IDHI/2、组蛋白 H3、hTERT 启动子突变、ATRX 丢失），这些改变导致了弥漫性神经胶质瘤的新组织分子分类。我们的目的是描述一系列 19 名患有纯小脑高级神经胶质瘤的成年人的这些变化。系统免疫组织化学分析，包括 IDHIR132H、ATRX、p53、PTEN、EGFR、p16、FGFR3、BRAFV600E、错配修复蛋白、H3K27me3、H3K36me3。和H3K27M； IDH1/2 的分子分析。在一项多中心研究中回顾性进行了 hTERT、BRAF、H3F3A 和 HIST1H3B 突变热点：以及 EGFR、PTEN FISH。我们通过组织病理学鉴定出 14 例胶质母细胞瘤、4 例 III 级星形细胞瘤和 1 例胶质肉瘤。两例显示 H3F3A K27M 突变。只有 1 例具有典型的胶质母细胞瘤特征，伴有 hTERT 突变、EGFR 增加和 10q 缺失。最常见的改变是 p16 免疫表达的缺失。我们报告了纯小脑高级神经胶质瘤的组织分子分析。组织分子特征似乎与幕上胶质瘤不同，没有 IDH1/2 基因突变，只有 1 例具有新发胶质母细胞瘤的经典特征。在 2 例病例中，我们发现了 H3F3A K27M 突变，这种突变通常在儿科中线神经胶质瘤中描述。
Numerous molecular alterations have been described in supratentorial high-grade gliomas (1p19q co-deletion, IDHI/2, histone H3, hTERT promotor mutations, loss of ATRX) which have led to a new histomolecular classification of diffuse gliomas. We aimed at describing these alterations in a series of 19 adults with pure cerebellar high-grade gliomas. Systematic immunohistochemical analyses, including that of IDHIR132H, ATRX, p53, PTEN, EGFR, p16, FGFR3, BRAFV600E, mismatch repair proteins, H3K27me3, H3K36me3. and H3K27M; molecular analyses of IDH1/2. hTERT, BRAF, H3F3A, and HIST1H3B mutation hotspots: and EGFR, PTEN FISH were retrospectively performed in a multicentric study. We histopathologically identified 14 glioblastomas, 4 grade III astrocytomas and 1 gliosarcoma. Two cases showed a H3F3A K27M mutation. Only one case harbored a classical profile of glioblastoma with hTERT mutation, EGFR gain and 10q loss. The most frequent alteration was the absence of p16 immunoexpression We report a histomolecular analysis of pure cerebellar high grade gliomas. The histomolecular profile appears to be different from that of supratentorial gliomas, with no IDH1/2 gene mutations and only 1 case with a classic profile of de novo glioblastoma. In 2 cases, we identified H3F3A K27M mutation, classically described in pediatric midline gliomas.