The Mutational Burden of Acral Melanoma

Scientists learn more through whole-genome sequencing and comparative analysis

Cancer Research UK scientists pinpoint how acral melanomas are genetically distinct from other more common types of melanoma, according to the whole genome sequencing study results published in the journal Pigment Cell & Melanoma Research.

Acral melanoma is a subtype of melanoma with distinct epidemiological, clinical and mutational profiles. Acral melanoma most often affects the palms of the hands, soles of the feet, nail-beds and other hairless parts of the skin. Unlike other more common types of melanoma, it’s not caused by UV damage from the sun.

Whole-Genome Sequencing and SNP Array

To define the genomic alterations in acral melanoma, the team from the Cancer Research UK Manchester Institute at The University of Manchester, conducted whole-genome sequencing and SNP array analysis in the tumours of five patients with metastatic acral melanoma and their matched normal genomes.

This revealed that the type of DNA damage found in acral melanoma is very different from other types of melanoma. Namely, the researchers identified the somatic mutations, copy number alterations and structural variants in these tumours and combined the data with published studies to identify recurrently mutated genes likely to be the drivers of acral melanomagenesis.

They then compared the pattern of genetic alterations found in acral tumours with genomic landscapes of mucosal, uveal and common cutaneous melanoma to reveal the distinctive mutational characteristics of each subtype.

The researchers hope that understanding the genomic landscape that drive acral melanoma will unlock better ways of treating this rare yet aggressive type of cancer.


Furney S, Turajlic S, Stamp G, et al.The mutational burden of acral melanoma revealed by whole genome sequencing and comparative analysis, Pigment cell and melanoma research 2014; Article first published online 30 June. DOI: 10.1111/pcmr.12279