Acral and Mucosal Melanomas Completely Distinct from Skin Melanoma

Genetic changes in melanomas on the hands and feet (acral) and internal surfaces (mucosal) are completely different to the mutations found in skin melanoma, according to a study forming part of the Australian Melanoma Genome Project. The findings confirm the diseases as being very distinct from each other.

Led by researchers at Melanoma Institute Australia, QIMR Berghofer Medical Research Institute and The University of Sydney, the study was the largest gene-sequencing study ever undertaken in melanoma. One of the biggest in the field of oncology, it was also the first study to survey melanomas’ entire DNA sequence.

The study of 183 patients found that, while UV radiation was the prevalent cause of genetic mutations in skin melanoma, whole-genome sequencing showed mutations in acral and mucosal melanomas were predominantly not caused by UV radiation. The study concluded that acral and mucosal melanomas, therefore, have different causes to skin melanoma, which may explain why new therapies for skin melanoma have been less unsuccessful in treating acral and mucosal melanomas.

The study also found that mucosal melanoma is genetically similar to eye melanoma, in that they share similar driver mutations (SF3B1 and GNAQ genes), which could have important outcomes for therapeutic development.

Professor Richard Scolyer, Conjoint Medical Director of Melanoma Institute Australia and a lead author of the study, said, “Our study provides important new insights from whole-genome sequencing, some of which are surprising. These findings will change the future direction of melanoma research and open the door for more effective treatments of acral and mucosal melanomas.”



Hayward, N.K. et al. Whole-genome landscapes of major melanoma subtypes. Nature. 03 May 2017. doi: 10.1038/nature22071.

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