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Epidemiology and genetic susceptibility of malignant melanoma in North Sardinia, Italy

Cossu, Antonio; Casula, Milena; Cesaraccio, Rosaria; Lissia, Amelia; Colombino, Maria; Sini, Maria C.; Budroni, Mario; Tanda, Francesco; Paliogiannis, Panagiotis; Palmieri, Giuseppe

European Journal of Cancer Prevention: May 2017 - Volume 26 - Issue 3 - p 263–267
doi: 10.1097/CEJ.0000000000000223
Research Papers: Skin Cancer

The aim of this report was to study the descriptive and genetic epidemiology of malignant melanoma in North Sardinia, Italy, in the period 1992–2011. Epidemiological data were obtained from the local tumor registry, which is part of the Italian Association for Tumor Registries. Among patients included in the North Sardinia tumor registry, 316 patients first evaluated for familial recurrence of melanoma were submitted to mutation analysis in CDKN2A and CDK4 genes. The overall number of cases registered was 532. The male-to-female ratio was 1 : 1 and the mean age was 56 years for men and 55 years for women. The standardized incidence rates were 4.9/100 000 and 4.4/100 000 and the standardized mortality rates were 1.7/100 000 and 1.3/100 000 for men and women, respectively. The relative 5-year survival was 77% for men and 79% for women. In our series, 24/316 (7.6%) patients had a familial occurrence of melanoma (presence of at least one additional family member affected). Among these, one variant (Gly23Asp), reported previously as a low-frequency disease-causing mutation, was detected by mutational screening in the p16 CDKN2A gene only. With the exception of polymorphisms, none of either the sporadic melanoma patients or healthy controls presented a germline mutation in candidate genes. An increase in incidence and a decrease in mortality rates of malignant melanoma were registered in North Sardinia, from 1992 to 2011, whereas survival was similar to that reported in recent international reports. The high-penetrance melanoma susceptibility genes (CDKN2A and CDK4) are not involved in predisposition to melanoma in North Sardinia.

aUnit of Pathology, Azienda Ospedaliero Universitaria (AOU)

bUnit of Cancer Genetics, Institute of Biomolecular Chemistry, CNR

cSassari Cancer Registry, Azienda Sanitaria Locale (ASL) n. 1

dSurgical Pathology Unit, AOU Sassari, Sassari, Italy

* Antonio Cossu and Milena Casula contributed equally to the writing of this article.

Correspondence to Panagiotis Paliogiannis, MD, PhD, Surgical Pathology Unit, AOU Sassari, Viale San Pietro 43B, 07100 Sassari, Italy Tel/fax: +39 079 228 596; e-mail:

Received November 5, 2015

Accepted January 9, 2016

Copyright © 2017 Wolters Kluwer Health, Inc. All rights reserved.