皮肤黑色素瘤中神经母细胞瘤大鼠肉瘤基因突变分析

摘要

Objective: To analyze the mutation of NRAS gene in patients with cutaneous melanoma by using the cancer genome atlas (TCGA) dataset. Methods: The information of 471 cases of cutaneous melanoma were downloaded from TCGA datasets. The clinical information and NRAS gene mutation data were statistically analyzed by cBioPortal net and SPSS. software Results: In 471 cutaneous melanoma cases, the mutation rate of NRAS gene was 20.80% (98/471). And there were 41 cases with Q61R mutation in the 98 cases were main(41.84%, 41/98), and 31 cases were Q61K mutation(31.63%, 31/98), and 10 cases were Q61L mutation (10.20%, 10/98), and 4 cases mutation were Q61H, and 1 case was G12A, and 1 case was G12D, and 2 cases were G12R, and 1 case with G13D, and 2 cases were G13R, and 5 cases were other mutations. Conclusion: The mutation rate of NRAS gene was 20.80% and the NRAS mutation with Q61 plays important roles in development of cutaneous melanoma targeted drugs.%目的:应用癌症基因组图谱(TCGA)数据集,在皮肤黑色素瘤中进行神经母细胞瘤大鼠肉瘤(NRAS)基因突变分析.方法:从TCGA数据库收集471例皮肤黑色素瘤病例数据集,统计患者临床信息、应用cBioPortal网站、SPSS统计学软件对数据集进行突变分析、基因共表达分析、生存期及基因调控网络等分析.结果:在471个病例中,NRAS基因突变98例(占20.80%),其中Q61R为主41例,占41.84%(41/98),Q61K突变31例,占31.63%(31/98),Q61L突变10例,占10.20%(10/98),Q61H突变4例,G12A突变1例,G12D突变1例,G12R突变2例,G13D突变1例,G13R突变2例,其他突变5例.结论:NRAS基因突变在皮肤黑色素瘤中有较高的发生率,占比20.80%,且以Q61突变为主,占比87.75%(86/98),此位点对黑色素瘤的靶向药物研发有着重要的作用.