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CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients - 12/04/19

Doi : 10.1016/j.jaad.2018.07.060 
Bruna Dalmasso, MD a, Lorenza Pastorino, PhD a, Giulia Ciccarese, MD a, Virginia Andreotti, PhD a, Federica Grillo, MD b, Luca Mastracci, MD b, Francesco Spagnolo, MD c, Alberto Ballestrero, MD, PhD a, Paola Queirolo, MD c, William Bruno, MD, PhD a, , Paola Ghiorzo, PhD a
a Department of Internal Medicine and Medical Specialties, University of Genoa and IRCCS Ospedale Policlinico San Martino, Genoa, Italy 
b Department of Surgical and Diagnostic Sciences, Pathology Unit, University of Genoa and IRCCS Ospedale Policlinico San Martino, Genoa, Italy 
c Department of Medical Oncology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy 

Correspondence to: William Bruno, MD, PhD, Department of Internal Medicine and Medical Specialties, University of Genoa and Genetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, V.le Benedetto XV, 6, 16132 Genoa, Italy.Department of Internal Medicine and Medical SpecialtiesUniversity of Genoa and Genetics of Rare CancersIRCCS Ospedale Policlinico San MartinoV.le Benedetto XV, 6Genoa16132Italy

Abstract

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.

Le texte complet de cet article est disponible en PDF.

Key words : cancer genetics, CDKN2A, follow-up, genetic testing, germline mutation, melanoma, predisposition, surveillance, survival, susceptibility

Abbreviations used : CI, HR, MPM, MSS, MUT, MUT+, OR, OS


Plan


 Funding sources: Supported by the Associazione Italiana per la Ricerca sul Cancro (grant IG 15460), the Italian Ministry of Health 5 × 1000 per la Ricerca Corrente to IRCCS Ospedale Policlinico San Martino, Genoa, and Italian Ministry of Health RF-2016-02362288.
 Conflicts of interest: None disclosed.


© 2018  American Academy of Dermatology, Inc.. Publié par Elsevier Masson SAS. Tous droits réservés.
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Vol 80 - N° 5

P. 1263-1271 - mai 2019 Retour au numéro
Article précédent Article précédent
  • Melanoma prognosis in the United States: Identifying barriers for improved care
  • Zachary H. Hopkins, Christopher Moreno, Ryan Carlisle, Aaron M. Secrest
| Article suivant Article suivant
  • Retrospective single-center study evaluating clinical and dermoscopic features of longitudinal melanonychia, ABCDEF criteria, and risk of malignancy
  • Dayoung Ko, Clara Oromendia, Richard Scher, Shari R. Lipner

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