BRAF V600E Mutation Is Associated with mTOR Signaling Activation in Glioneuronal Tumors
BRAF V600E Mutation Is Associated with mTOR Signaling Activation in Glioneuronal Tumors
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DOI：
10.1111/bpa.12081
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发表时间：
2014-01-01
期刊：
影响因子：
6.4
通讯作者：
Aronica, Eleonora
中科院分区：
文献类型：
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作者：
Prabowo, Avanita S.;Iyer, Anand M.;Aronica, Eleonora
BRAF V600 E突变最近已在胶质神经元肿瘤（GNT）中报道。为了评估BRAF V600 E突变蛋白的表达及其与哺乳动物雷帕霉素靶蛋白（mTOR）通路激活、免疫表型和GNT临床特征的相关性，我们研究了174例GNT。直接DNA测序和BRAF V600 E免疫组化检测BRAF V600 E突变的存在。BRAF突变蛋白在38/93（40.8%）例神经节细胞胶质瘤（GGs）、2/4（50%）例促纤维增生性婴儿神经节细胞胶质瘤（DIGs）和23/77（29.8%）例胚胎发育不良性神经上皮肿瘤（DNT）中表达。在GG和DNT中，BRAF V600 E突变的存在与发育不良神经元中的CD 34、磷酸化核糖体S6蛋白（pS 6; mTOR通路激活的标志物）和突触素的表达显著相关（P
BRAF V600E mutations have been recently reported in glioneuronal tumors (GNTs). To evaluate the expression of the BRAF V600E mutated protein and its association with activation of the mammalian target of rapamycin (mTOR) pathway, immunophenotype and clinical characteristics in GNTs, we investigated a cohort of 174 GNTs. The presence of BRAF V600E mutations was detected by direct DNA sequencing and BRAF V600E immunohistochemical detection. Expression of BRAF-mutated protein was detected in 38/93 (40.8%) gangliogliomas (GGs), 2/4 (50%) desmoplastic infantile gangliogliomas (DIGs) and 23/77 (29.8%) dysembryoplastic neuroepithelial tumors (DNTs) by immunohistochemistry. In both GGs and DNTs, the presence of BRAF V600E mutation was significantly associated with the expression of CD34, phosphorylated ribosomal S6 protein (pS6; marker of mTOR pathway activation) in dysplastic neurons and synaptophysin (P