Distinct sets of genetic alterations in melanoma
Comparing melanomas from sun-damaged skin, non-sun-damaged skin, palms and soles, and mucosal surfaces showed each carries a different pattern of BRAF, NRAS and copy-number changes, establishing that melanoma is several genetically distinct diseases.
Overview
Comparative genomic hybridisation and mutation analysis of 126 melanomas grouped by anatomical site and sun exposure, showing BRAF mutations concentrated in melanomas on skin without chronic sun damage, and frequent focal amplifications with few BRAF mutations in acral and mucosal melanomas.
- BRAF mutations in 59 percent of melanomas on non-chronically sun-damaged skin vs 11 percent in chronically sun-damaged, 23 percent acral and 11 percent mucosal.
- Frequent focal copy-number amplifications in acral and mucosal melanoma.
This paper founded the site-based molecular classification of melanoma that underpins separate pages for acral and mucosal disease and their different treatment responses.
- Low-resolution copy-number technology by current standards.
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