title: Clinical and histopathological features of malignant melanoma in germline CDKN2A mutation families.
abstract: Primary cutaneous malignant melanomas (CMMs) from 26 individuals belonging to nine families with an identified mutation were clinically and histopathologically compared with 78 matched CMM controls and with a population-based series of CMMs ( = 667). All tumours were histopathologically re-examined. CDKN2A-associated cases were significantly less invasive compared with the matched controls, with an adjusted odds ratio (adjOR) of 2.9 and a 95% confidence interval (CI) of 1.0-8.1 ( = 0.04). According to the odds ratio (OR) values, CDKN2A-associated cases seemed to have tumours more often located on the head and neck (adjOR 2.9, 95% CI 0.6-13.7), with less inflammation (adjOR 0.7, 95% CI 0.3-1.8) and regression (adjOR 0.6, 95% CI 0.2-1.8) but more frequent histological ulceration (adjOR 1.9, 95% CI 0.6-5.8). In comparison with the population-based material, CDKN2A-associated cases were significantly younger at diagnosis (crude OR 3.5, 95% CI 1.6-7.5, divided at 50 years) and had less regressive reaction in their tumours (crude OR 0.35, 95% CI 0.2-0.8). No significant differences were seen for tumour thickness between the different groups. On multivariate analysis, the overall survival was significantly worse for thicker tumours and older age ( = 0.04 for both). To our knowledge this is the first description of the histopathological features of CMMs from families with mutations in the CDKN2A gene.
authors.affiliation: Department of Pathology, University Hospital, Lund, Sweden. anna.masback@skane.se
authors.forename: A
authors.initials: A
authors.lastname: Måsbäck
authors.forename: H
authors.initials: H
authors.lastname: Olsson
authors.forename: J
authors.initials: J
authors.lastname: Westerdahl
authors.forename: T
authors.initials: T
authors.lastname: Sandberg
authors.forename: A
authors.initials: A
authors.lastname: Borg
authors.forename: N
authors.initials: N
authors.lastname: Jonsson
authors.forename: C
authors.initials: C
authors.lastname: Ingvar
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis*; D005260:Female; D019942:Genes, p16; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D016555:Matched-Pair Analysis; D008545:Melanoma / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D015999:Multivariate Analysis; D016017:Odds Ratio; D012878:Skin Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D016019:Survival Analysis; D013548:Sweden / Q000453:epidemiology
chemical_list: D004273:DNA, Neoplasm