title: Genotype analysis in Hungarian patients with multiple primary melanoma.
abstract: Multiple primary melanoma patients (MPMps) have better prognosis and are more prone to genetic predisposition than single melanoma patients. We aimed to compare genetic background (CDKN2A, CDK4, MITF, MC1R) of 43 Hungarian MPMps 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. CDKN2A mutation frequency was 4.7% (E69G, R99P). We identified a new human MC1R variant (D117G) and reported MC1R variant distributions in Hungarian MMs for the first time. The rare R163Q was exceptionally common among Hungarian MPMps, a variant otherwise frequent in Asia, but not in Europe. MC1R 'R' carriers showed histopathological signs of a more progressive disease than 'r' carriers did; however, tumor-infiltrating lymphocytes (TILs) 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%).
authors.affiliation: Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary.
authors.forename: Zsófia
authors.initials: Z
authors.lastname: Hatvani
authors.forename: Valentin
authors.initials: V
authors.lastname: Brodszky
authors.forename: Mercédesz
authors.initials: M
authors.lastname: Mazán
authors.forename: Dóra
authors.initials: D
authors.lastname: Pintér
authors.forename: Judit
authors.initials: J
authors.lastname: Hársing
authors.forename: Veronika
authors.initials: V
authors.lastname: Tóth
authors.forename: Beáta
authors.initials: B
authors.lastname: Somlai
authors.forename: Sarolta
authors.initials: S
authors.lastname: Kárpáti
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D051358:Cyclin-Dependent Kinase 4 / Q000235:genetics; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D006814:Hungary; D016246:Lymphocytes, Tumor-Infiltrating / Q000166:cytology; D008297:Male; D008545:Melanoma / Q000235:genetics*; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000208:ethnology / Q000235:genetics; D011379:Prognosis; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D012878:Skin Neoplasms / Q000208:ethnology / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D044102:Receptor, Melanocortin, Type 1; C495900:CDK4 protein, human; D051358:Cyclin-Dependent Kinase 4
keywords: CDKN2A; MC1R; genetics; multiple primary melanoma