High prevalence of TP53 mutations is associated with poor survival and epithelial-mesenchymal transition signature in gliosarcoma patients. Gliosarcoma

Gliosarcoma (GS) is a rare variant (2%) of glioblastoma (GBM) and poses clinical genomic challenges because of poor prognosis and limited genomic information1-3. To understand the molecular etiology of GS, we applied whole-exome sequencing for 28 GS cases from different patient cohorts. Mutations of TP53 were more predominantly prevalent in GS cases (70% (20/28)) compared to GBM cases (32% (29/90)), and GS patients with TP53 mutations showed a significantly shorter survival (P = 0.019).

胶质肉瘤（Gliosarcoma, GS）是胶质母细胞瘤（Glioblastoma, GBM）的罕见亚型，占比仅为2%；因其预后不佳且基因组学相关信息匮乏，给临床基因组学研究带来诸多挑战（参考文献1-3）。为明确胶质肉瘤的分子病因，本研究对来自不同患者队列的28例胶质肉瘤样本实施了全外显子组测序（whole-exome sequencing）。分析结果显示，TP53基因突变在胶质肉瘤患者中的检出率达70%（20/28），显著高于胶质母细胞瘤患者的32%（29/90）；且携带TP53基因突变的胶质肉瘤患者总生存期显著缩短（P=0.019）。