皮肤黑色素瘤中IDH1基因突变分析

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.

Analysis of IDH1 mutations in skin cutaneous melanoma

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.