The mutational burden of acral melanoma revealed by whole-genome sequencing and comparative analysis
The mutational burden of acral melanoma revealed by whole-genome sequencing and comparative analysis
复制标题
DOI：
10.1111/pcmr.12279
复制
发表时间：
2014-09-01
影响因子：
4.3
通讯作者：
Marais, Richard
中科院分区：
文献类型：
--
作者：
Furney, Simon J.;Turajlic, Samra;Marais, Richard
肢端黑色素瘤是黑色素瘤的一种亚型，具有不同的流行病学、临床和突变特征。为了确定肢端黑色素瘤的基因组改变，我们对5个转移性肿瘤及其匹配的正常基因组进行了全基因组测序和SNP阵列分析。我们确定了这些肿瘤中的体细胞突变、拷贝数改变和结构变异，并将我们的数据与已发表的研究相结合，以确定可能是肢端黑色素瘤发生驱动因素的复发突变基因。我们比较和对比肢端，粘膜，葡萄膜和常见的皮肤黑色素瘤的基因组景观，以揭示每个亚型的独特的突变特征。
Acral melanoma is a subtype of melanoma with distinct epidemiological, clinical and mutational profiles. To define the genomic alterations in acral melanoma, we conducted whole-genome sequencing and SNP array analysis of five metastatic tumours and their matched normal genomes. We identified the somatic mutations, copy number alterations and structural variants in these tumours and combined our data with published studies to identify recurrently mutated genes likely to be the drivers of acral melanomagenesis. We compared and contrasted the genomic landscapes of acral, mucosal, uveal and common cutaneous melanoma to reveal the distinctive mutational characteristics of each subtype.