Clonal expansion and epigenetic reprogramming following deletion or amplification of mutant IDH

Initially IDH1 mutant gliomas are shown to have IDH1 is deletions or amplifications at recurrence yielding a higher-grade tumor with a reprogrammed epigenome. We also report systematic selection for cells with IDH1 CNA in vitro and in vivo.EGA study EGAS00001002618

初始状态下，异柠檬酸脱氢酶1（Isocitrate Dehydrogenase 1, IDH1）突变型胶质瘤在复发时会出现IDH1基因的缺失或扩增，进而形成具有重编程表观基因组的高级别肿瘤。本研究还报道了在体外（in vitro）与体内（in vivo）环境中，针对携带IDH1拷贝数变异（Copy Number Aberration, CNA）的细胞所开展的系统性筛选。本数据集来源于欧洲基因组学档案（European Genome-phenome Archive, EGA）中的研究项目EGAS00001002618。