Melanomas of unknown primary have a mutation profile consistent with cutaneous sun-exposed melanoma

Dutton-Regester, K., Kakavand, H., Aoude, L.G., Stark, M.S., Gartside, M.G., Johansson, P., O'Connor, L., Lanagan, C., Tembe, V., Pupo, G.M., Haydu, L.E., Schmidt, C.W., Mann, G.J., Thompson, J.F., Scolyer, R.A. and Hayward, N.K. (2013) Melanomas of unknown primary have a mutation profile consistent with cutaneous sun-exposed melanoma. Pigment Cell and Melanoma Research, 26 6: 852-860. doi:10.1111/pcmr.12153

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Author Dutton-Regester, K.
Kakavand, H.
Aoude, L.G.
Stark, M.S.
Gartside, M.G.
Johansson, P.
O'Connor, L.
Lanagan, C.
Tembe, V.
Pupo, G.M.
Haydu, L.E.
Schmidt, C.W.
Mann, G.J.
Thompson, J.F.
Scolyer, R.A.
Hayward, N.K.
Title Melanomas of unknown primary have a mutation profile consistent with cutaneous sun-exposed melanoma
Journal name Pigment Cell and Melanoma Research   Check publisher's open access policy
ISSN 1755-1471
1755-148X
Publication date 2013-11-01
Year available 1996
Sub-type Article (original research)
DOI 10.1111/pcmr.12153
Open Access Status Not yet assessed
Volume 26
Issue 6
Start page 852
End page 860
Total pages 9
Place of publication Malden, MA, United States
Publisher Wiley-Blackwell Publishing
Language eng
Abstract Summary: 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.
Keyword Melanoma of unknown primary
Mutation profile
Sequencing
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
School of Medicine Publications
 
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Created: Thu, 03 Apr 2014, 23:38:29 EST by Matthew Lamb on behalf of School of Medicine