Pigment cell & melanoma research · 2013
Melanomas of unknown primary have a mutation profile consistent with cutaneous sun-exposed melanoma.
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Dutton-Regester Ken, Kakavand Hojabr, Aoude Lauren G, Stark Mitchell S, Gartside Michael G, Johansson Peter, O'Connor Linda, Lanagan Cathy, Tembe Varsha, Pupo Gulietta M, Haydu Lauren E, Schmidt Christopher W, Mann Graham J, Thompson John F, Scolyer Richard A, Hayward Nicholas K
Аннотация
Melanoma of unknown primary (MUP) is an uncommon phenomenon whereby patients present with metastatic disease without an evident primary site. To determine their likely site of origin, we combined exome sequencing from 33 MUPs to assess the total rate of somatic mutations and degree of UV mutagenesis. An independent cohort of 91 archival MUPs was also screened for 46 hot spot mutations highly prevalent in melanoma including BRAF, NRAS, KIT, GNAQ, and GNA11. Results showed that the majority of MUPs exhibited high somatic mutation rates, high ratios of C>T/G>A transitions, and a high rate of BRAF (45 of 101, 45%) and NRAS (32 of 101, 32%) mutations, collectively indicating a mutation profile consistent with cutaneous sun-exposed melanomas. These data suggest that a significant proportion of MUPs arise from regressed or unrecognized primary cutaneous melanomas or arise de novo in lymph nodes from nevus cells that have migrated from the skin.