Zhang Tongwu, Dutton-Regester Ken, Brown Kevin M, Hayward Nicholas K
Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Cancer Program, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Pigment Cell Melanoma Res. 2016 May;29(3):266-83. doi: 10.1111/pcmr.12459. Epub 2016 Mar 4.
Somatic mutation analysis of melanoma has been performed at the single gene level extensively over the past several decades. This has provided considerable insight into the critical pathways controlling melanoma initiation and progression. During the last 5 yr, next-generation sequencing (NGS) has enabled even more comprehensive mutational screening at the level of multigene panels, exomes and genomes. These studies have uncovered many new and unexpected players in melanoma development. The recent landmark study from The Cancer Genome Atlas (TCGA) consortium describing the genomic architecture of 333 cutaneous melanomas provides the largest and broadest analysis to date on the somatic aberrations underlying melanoma genesis. It thus seems timely to review the mutational landscape of melanoma and highlight the key genes and cellular pathways that appear to drive this cancer.
在过去几十年里，黑色素瘤的体细胞突变分析主要是在单基因水平上广泛开展的。这为深入了解控制黑色素瘤起始和进展的关键通路提供了大量信息。在过去5年中，新一代测序（NGS）技术使得在多基因面板、外显子组和基因组水平上进行更全面的突变筛查成为可能。这些研究发现了许多在黑色素瘤发生过程中发挥作用的新的和意想不到的因素。癌症基因组图谱（TCGA）联盟最近发表的一项具有里程碑意义的研究，描述了333例皮肤黑色素瘤的基因组结构，是迄今为止对黑色素瘤发生过程中体细胞畸变进行的规模最大、范围最广的分析。因此，回顾黑色素瘤的突变格局并突出那些似乎驱动这种癌症的关键基因和细胞通路显得恰逢其时。
