alexa Clinical and Histopathological Characteristics between
ISSN: 2155-9554

Journal of Clinical & Experimental Dermatology Research
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Research Article

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

Paula Aguilera1*, Josep Malvehy1,2, Cristina Carrera1,2, Josep Palou1, Joan Anton Puig-Butillé2,3, Llúcia Alòs4, Celia Badenas2,3 and Susana Puig1,2

1Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain

2CIBER on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain

3Biochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain

4Pathology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain

*Corresponding Author:
Paula Aguilera, MD
Dermatology Department. Melanoma Unit, Hospital Clínic
IDIBAPS, Villarroel 170
08036. Barcelona, Spain
Tel: 696673323
E-mail: [email protected]

Received date: July 02, 2014; Accepted date: August 11, 2014; Published date: August 18, 2014

Citation: Aguilera P, Malvehy J, Carrera C, Palou J, Puig-Butillé JA, et al. (2014) Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain. J Clin Exp Dermatol Res 5:231. doi:10.4172/2155-9554.1000231

Copyright: © 2014 Aguilera P, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



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.


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