Clinical and histopathological features of malignant melanoma in germline CDKN2A mutation families

Anna Måsbäck, Håkan Olsson, Johan Westerdahl, Therese Törngren, Åke Borg, Nils Jonsson, Christian Ingvar

Research output: Contribution to journalArticlepeer-review


Primary cutaneous malignant melanomas (CMMs) from 26 individuals belonging to nine families with an identified CDKN2A mutation were clinically and histopathologically compared with 78 matched CMM controls and with a population-based series of CMMs (n=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 (P=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 0.355 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 (P=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.
Original languageEnglish
Pages (from-to)549-557
JournalMelanoma Research
Issue number6
Publication statusPublished - 2002

Bibliographical note

The information about affiliations in this record was updated in December 2015.
The record was previously connected to the following departments: Surgery (Lund) (013009000), Oncology, MV (013035000), Pathology, (Lund) (013030000)

Subject classification (UKÄ)

  • Cancer and Oncology

Free keywords

  • mutation
  • melanoma
  • histopathology
  • CDKN2A
  • hereditary
  • population-based


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