Ultraviolet radiation drives mutations in a subset of mucosal melanomas

Although identified as the key environmental driver of common cutaneous melanoma, the role of ultraviolet radiation (UVR)-induced DNA damage in mucosal melanoma is poorly defined. We analyze 10 mucosal melanomas of conjunctival origin by whole genome sequencing and our data shows a predominance of UVR-associated single base substitution signature 7 (SBS7) in the majority of the samples. Our data shows mucosal melanomas with SBS7 dominance have similar genomic patterns to cutaneous melanomas and therefore this subset should not be excluded from treatments currently used for common cutaneous melanoma. Mucosal melanomas are not thought to be UV radiation (UVR)-driven, yet some present UVR-related mutations. Here the authors show that some mucosal melanomas, especially conjunctival, present mutations characteristic of UVR exposure, yet share structural variants typical of other mucosal melanomas.

Automated summary

By analyzing 10 mucosal melanomas of conjunctival origin, the study found that mucosal melanomas with a predominance of UVR-associated single base substitution signature 7 (SBS7) have genomic patterns similar to cutaneous melanomas, suggesting they should not be excluded from treatments currently used for common cutaneous melanoma. While mucosal melanomas are not typically thought to be driven by UV radiation, some do present mutations characteristic of UVR exposure, indicating a potential overlap between certain mucosal and cutaneous melanomas in terms of genetic characteristics.