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Genotype analysis in H ungarian patients with multiple primary melanoma
Author(s) -
Hatvani Zsófia,
Brodszky Valentin,
Mazán Mercédesz,
Pintér Dóra,
Hársing Judit,
Tóth Veronika,
Somlai Beáta,
Kárpáti Sarolta
Publication year - 2014
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/exd.12382
Subject(s) - cdkn2a , melanoma , microphthalmia associated transcription factor , medicine , genotype , genetic predisposition , oncology , disease , cancer research , cancer , biology , gene , genetics , transcription factor
Multiple primary melanoma patients ( MPM ps) have better prognosis and are more prone to genetic predisposition than single melanoma patients. We aimed to compare genetic background ( CDKN 2A, CDK 4, MITF , MC 1R ) of 43 Hungarian MPM ps with their clinicopathological data. We observed a higher rate of synchronous first and second melanoma ( MM ) (49%) and a higher frequency of non‐melanoma tumor co‐occurrence (42%) than reported previously. CDKN 2A mutation frequency was 4.7% (E69G, R99P). We identified a new human MC 1R variant (D117G) and reported MC 1R variant distributions in Hungarian MM s for the first time. The rare R163Q was exceptionally common among Hungarian MPM ps, a variant otherwise frequent in Asia, but not in Europe. MC 1R ‘R’ carriers showed histopathological signs of a more progressive disease than ‘r’ carriers did; however, tumor‐infiltrating lymphocytes ( TIL s) in their second melanomas occurred significantly more frequently. Calculating 5‐year overall survival, ‘R’ carriers showed more unfavourable prognosis (87%) than ‘r’ carriers did (95%).