Melanomas of unknown primary have a mutation profile consistent with cutaneous sun-exposed melanoma
作者： Ken Dutton-Regester , Hojabr Kakavand , Lauren G. Aoude , Mitchell S. Stark , Michael G. Gartside
DOI: 10.1111/PCMR.12153
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摘要: Summary: Melanoma of unknown primary (MUP) is an uncommon phenomenon whereby patients present with metastatic disease without evident site. To determine their likely site origin, we combined exome sequencing from 33 MUPs to assess the total rate somatic mutations and degree UV mutagenesis. An independent cohort 91 archival was also screened for 46 hot spot highly prevalent in melanoma including BRAF, NRAS, KIT, GNAQ, GNA11. Results showed that majority exhibited high mutation rates, ratios C>T/G>A transitions, a BRAF (45 101, 45%) NRAS (32 32%) mutations, collectively indicating profile consistent cutaneous sun-exposed melanomas. These data suggest significant proportion arise regressed or unrecognized melanomas de novo lymph nodes nevus cells have migrated skin.
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