Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain.

Abstract

BACKGROUND:

About 6 to 14% of melanoma cases occur in a familial setting. Germline mutations in CDKN2A are detected in 20 to 40% of melanoma families.

OBJECTIVE:

To characterise the clinical and histopathological characteristics of familial melanoma thus providing more information to clinicians and contribute to the understanding of the genetic-environment interplay in the pathogenesis of melanoma.

METHODS:

Clinical, histological and immunohistochemical characteristics of 62 familial melanomas were compared with 127 sporadic melanomas.

RESULTS:

variables associated with familial melanoma were earlier age at diagnosis (OR 1.036; 95% CI 1.017-1.055), lower Breslow thickness (OR 1.288; 95% CI 1.013-1.683) and in situ melanomas (OR 2.645; 95% CI 1.211-5.778). Variables associated with CDKN2A mutation carriers were earlier age at diagnosis (OR 1.060; 95% CI 1.016-1.105), in situ melanomas (OR 6.961; 95% CI 1.895-25.567), the presence of multiple melanomas (OR 8.920; 95% CI 2.399-33.166) and the immunopositivity of the tumours for cytoplasmic survivin (OR 9.072; 95% CI 1.025-85.010).

CONCLUSIONS:

Familial melanoma was significantly associated with the earlier age of onset, lower Breslow thickness and with a higher number of in situ melanomas; and also carriers of CDKN2A mutations were associated with a higher risk of multiple melanomas and cytoplasmic survivin immunostaining.

• Authors: Paula Aguilera, Josep Malvehy, Cristina Carrera, Josep Palou, Joan Anton Puig-Butillé, Llúcia Alòs, Celia Badenas, Susana Puig
• Journal: Journal of clinical & experimental dermatology research (J Clin Exp Dermatol Res) Vol. 5 Issue 5 Pg. 231 (Sep 2014) ISSN: 2155-9554 [Print] United States
• PMID: 25893138 (Publication Type: Journal Article)