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发生于脑干和丘脑的胶质瘤是一类毁灭性肿瘤,难以通过手术切除。为确定这些肿瘤的遗传和表观遗传学背景,作者对14例脑干胶质瘤(BSGs)和12例丘脑胶质瘤病例进行外显子组测序。同时该团队通过针对性突变分析对另外24例该类肿瘤及45例脑胶质瘤进行全基因组甲基化谱进行分析。这项研究发现肿瘤特异性突变PPM1D,该突变编码野生型p53蛋白诱导的蛋白磷酸酶1D(WIP1),其在37.5%的脑干胶质瘤中存在标志性的H3F3A基因突变导致编码第27
Glioma, which occurs in the brainstem and thalamus, is a type of devastating tumor that is difficult to surgically remove. To determine the genetic and epigenetic background of these tumors, the authors performed exome sequencing of 14 cases of brain stem gliomas (BSGs) and 12 cases of thalamic gliomas. At the same time, the team analyzed the genome-wide methylation profiles of another 24 tumors and 45 gliomas by targeted mutation analysis. This study found that the tumor-specific mutation PPM1D, which encodes the wild-type p53 protein-induced protein phosphatase 1D (WIP1), which has the marker H3F3A mutation in 37.5% of brain stem gliomas,