# Whole-genome landscapes of major melanoma subtypes

Source: https://onco.cc/key-papers/paper-hayward-melanoma-whole-genome-nature-2017/  
OnCo record `paper-hayward-melanoma-whole-genome-nature-2017` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Whole-genome sequencing of 183 melanomas showed that acral and mucosal melanomas have far fewer mutations than sun-exposed skin melanomas but many more structural rearrangements, confirming they are biologically different diseases.

## Summary

Whole-genome sequencing of 183 melanomas including cutaneous, acral and mucosal subtypes, characterising mutation burden, ultraviolet signatures, structural variants, telomerase promoter alterations and driver genes.

Cutaneous melanomas carried a high ultraviolet-signature mutation load, whereas acral and mucosal melanomas had low point-mutation burden, frequent structural variants and amplifications (including KIT, CDK4 and CCND1), and different driver patterns.

## Fields

- Kind: Key paper
- Last checked: 2026-09-17
- Journal: Nature
- Year: 2017
- DOI: 10.1038/nature22071
- Authors: Hayward NK, Wilmott JS, Waddell N, et al.
- Findings: Acral and mucosal melanomas: low mutation burden, high structural variant load.; Frequent amplifications of KIT, CDK4 and CCND1 in non-sun-exposed subtypes.
- What it means: The lower response of acral and mucosal melanoma to immunotherapy and the interest in KIT and CDK4/6 inhibitors for these subtypes follow from this genomic picture.
- Caveats: Relatively small numbers of acral and mucosal tumours.

## Sources

- Nature 2017: https://doi.org/10.1038/nature22071
- PubMed: https://pubmed.ncbi.nlm.nih.gov/28467829/

## Connected records

- cancers: [Acral melanoma](https://onco.cc/cancers/acral-melanoma/), [Mucosal melanoma](https://onco.cc/cancers/mucosal-melanoma/)
- journals: [Nature](https://onco.cc/journals/nature/)

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