皮肤黑色素瘤中IDH1基因突变分析

Analysis of IDH1 mutations in skin cutaneous melanoma

目的:应用癌症基因组图谱(TCGA)数据库分析皮肤黑色素瘤中IDH1基因突变情况。方法:从癌症基因组图谱(TCGA)数据库收集皮肤黑色素瘤数据集,统计患者临床信息、应用cBioPortal网站对数据集进行突变、离散基因、基因共表达、生存期等分析。结果:287个病例中,IDH1基因突变15例,其中,R132C突变10例,R132L突变2例,P33S/E361K突变各1例,X174缺失1例。结论:IDH1基因突变在皮肤黑色素瘤中有一定发生率,占比5.2%,且以R132突变为主,此位点有可能成为靶向药物作用的靶点。

Objective：To observe the mutations of IDH1 in skin cutaneous melanoma.Methods：Skin cutaneous melanoma and the IDH1 mutations data in The Cancer Genome Atlas（TCGA）datasets and its clinical information were downloaded.Statistical assessment was performed using cBioPortal.Results：In the skin cutaneous melanoma,the frequency of IDH1 mutations was 5.2%（15/287）,and there were 10 cases with R132C mutation,2 cases with R132L mutation,1 case with P33S,1 case with E361K,and 1 case with X174 deletion.Conclusion：The frequency of IDH1 mutations is 5.2% and the IDH1 may play important roles in cutaneous melanoma.