The mutational burden of acral melanoma revealed by whole-genome sequencing and comparative analysis

Pigment Cell Melanoma Res. 2014 Sep;27(5):835-8. doi: 10.1111/pcmr.12279. Epub 2014 Jun 30.

Abstract

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.

Keywords: acral melanoma; mutational burden; somatic mutations; whole-genome sequencing.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Damage
  • DNA Mutational Analysis*
  • Gene Dosage
  • Genetic Variation
  • Genome, Human
  • Humans
  • Melanoma / genetics*
  • Melanoma, Cutaneous Malignant
  • Mutation*
  • Polymorphism, Single Nucleotide
  • Skin Neoplasms / genetics*