CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients

Bruna Dalmasso, Lorenza Pastorino, Giulia Ciccarese, Virginia Andreotti, Federica Grillo, Luca Mastracci, Francesco Spagnolo, Alberto Ballestrero, Paola Queirolo, William Bruno, Paola Ghiorzo

Research output: Contribution to journalArticlepeer-review


Background: Cyclin dependent kinase inhibitor 2A gene (CDKN2A) germline mutations have recently been associated with poor survival in patients with melanoma. Despite the high mutation rate in our cohort (up to 10% in patients with apparently sporadic melanoma), information on the impact of CDKN2A on survival in this cohort is lacking. Objective: To investigate whether poor survival associated with CDKN2A germline mutations was confirmed in a high mutation–prevalence cohort of Italian patients with melanoma undergoing a mutation-based follow-up. Methods: A total of 1239 patients with cutaneous melanoma were tested for CDKN2A mutational status and then assigned to a follow-up scheme according not only to family history but also to CDKN2A mutational status, as follow-up intervals were more frequent for CDKN2A germline mutation–positive (MUT+) patients. From this cohort, we selected 106 MUT+ patients (with familial melanoma or apparently sporadic melanoma) and 199 CDKN2A germline mutation–negative (MUT) patients with sporadic melanoma who were matched by age and sex and had a similar tumor stage distribution. Results: We found no difference in overall survival (hazard ratio, 0.85; 95% confidence interval, 0.48-1.52; P =.592,) or melanoma-specific survival (hazard ratio, 0.86; 95% confidence interval, 0.38-1.95; P =.718,) between MUT+ and MUT patients. MUT+ patients were more likely to develop multiple melanomas and to undergo surgical excision of dysplastic nevi than were MUT patients. Limitations: Retrospective study. Conclusion: CDKN2A mutations were not associated with survival in our cohort.

Original languageEnglish
JournalJournal of the American Academy of Dermatology
Publication statusAccepted/In press - Jan 1 2018


  • cancer genetics
  • CDKN2A
  • follow-up
  • genetic testing
  • germline mutation
  • melanoma
  • predisposition
  • surveillance
  • survival
  • susceptibility

ASJC Scopus subject areas

  • Dermatology


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