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
E-mail: [email protected]
|Received July 02, 2014; Accepted August 11, 2014; Published 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.|
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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.