Dysembryoplastic Neuroepithelial Tumors Share with Pleomorphic Xanthoastrocytomas and Gangliogliomas BRAFV600E Mutation and Expression
Dysembryoplastic Neuroepithelial Tumors Share with Pleomorphic Xanthoastrocytomas and Gangliogliomas BRAFV600E Mutation and Expression
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DOI：
10.1111/bpa.12048
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发表时间：
2013-09-01
期刊：
影响因子：
6.4
通讯作者：
Figarella-Branger, Dominique
中科院分区：
文献类型：
--
作者：
Chappe, Celine;Padovani, Laetitia;Figarella-Branger, Dominique
小儿皮质胶质细胞良性肿瘤主要包括神经节胶质瘤（GG）[鉴别诊断毛细胞星形细胞瘤（PA）和多形性黄色星形细胞瘤（PXA）]和胚胎发育异常神经上皮瘤（DNT）。DNT包括特异性形式和缺乏特异性胶质细胞成分的有争议的非特异性形式。我们的目的是寻找BRAF（V600E）突变和CD34在DNT、PXA、GG和PA中的表达，以将BRAF（V600E）突变与BRAF（V600E）表达联系起来，并评估其诊断和预后价值。96名儿童被纳入研究。采用测序和免疫组化方法研究BRAF（V600E）突变；免疫组化分析CD34表达。BRAF（V600E）突变在PXA（60%）、GG（38.7%）、DNT（30%，包括3/11特异性和3/9非特异性形式）和PA（12.5%）中检测到。BRAF（V600E）在PXA（60%）、GG（45.2%）和DNT（30%）中均有表达。CD34在PXA（60%）、GG（58.1%）、DNT（25%）和PA（12.5%）中均有表达。CD34表达和BRAF（V600E）状态都不能预测预后，但PA肿瘤中CD34表达与较短的总生存期相关。综上所述，DNT与PXA和GG、BRAF（V600E）突变和/或CD34表达具有共性，是这些肿瘤的分子标志物，我们建议在所有DNT中，特别是非特异性形式中寻找CD34表达和BRAF（V600E）突变。
Pediatric cortical glioneuronal benign tumors mainly include gangliogliomas (GG) [differential diagnoses pilocytic astrocytomas (PA) and pleomorphic xanthoastrocytomas (PXA)] and dysembryoplastic neuroepithelial tumor (DNT). DNT include the specific form and the controversial non-specific form that lack the specific glioneuronal element. Our aims were to search for BRAF(V600E) mutation and CD34 expression in DNT, PXA, GG and PA to correlate BRAF(V600E) mutation with BRAF(V600E) expression and to evaluate their diagnostic and prognostic values. Ninety-six children were included. BRAF(V600E) mutation was studied by sequencing and immunohistochemistry; CD34 expression was analyzed by immunohistochemistry. BRAF(V600E) mutation was detected in PXA (60%), GG (38.7%), DNT (30%, including 3/11 specific and 3/9 non-specific forms) and PA (12.5%). BRAF(V600E) expression was recorded in PXA (60%), GG (45.2%) and DNT (30%). CD34 expression was recorded in PXA (60%), GG (58.1%), DNT (25%) and PA (12.5%). Neither CD34 expression nor BRAF(V600E) status was predictive of prognosis, except for PA tumors where CD34 expression was associated with a shorter overall survival. In conclusion, DNT shared with PXA and GG, BRAF(V600E) mutation and/or CD34 expression, which represent molecular markers for these tumors, and we recommend searching for CD34 expression and BRAF(V600E) mutation in all DNT, especially the non-specific forms.