To increase understanding of the genomic landscape of acral melanoma, a rare form of melanoma occurring on palms, soles or nail beds, whole genome sequencing of 87 tumors with matching transcriptome sequencing for 63 tumors was performed. Here we report that mutational signature analysis reveals a subset of tumors, mostly subungual, with an ultraviolet radiation signature. Significantly mutated genes are BRAF, NRAS, NF1, NOTCH2, PTEN and TYRP1. Mutations and amplification of KIT are also common. Structural rearrangement and copy number signatures show that whole genome duplication, aneuploidy and complex rearrangements are common. Complex rearrangements occur recurrently and are associated with amplification of TERT, CDK4, MDM2, CCND1, PAK1 and GAB2, indicating potential therapeutic options.

为了增进对手掌，脚底或指甲床上罕见的黑色素瘤形式的黑色素瘤黑素瘤基因组格局的了解，对87个肿瘤进行了全基因组测序，并对63个肿瘤进行了匹配的转录组测序。在这里，我们报告突变签名分析揭示了一个肿瘤子集，大部分是颌下的，带有紫外线辐射签名。显着突变的基因是BRAF，NRAS，NF1，NOTCH2，PTEN和TYRP1。KIT的突变和扩增也很常见。结构重排和拷贝数签名表明，全基因组重复，非整倍性和复杂重排是常见的。复杂的重排反复发生并与TERT，CDK4，MDM2，CCND1，PAK1和GAB2的扩增有关，表明潜在的治疗选择。