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Aguilera P, Malvehy J, Carrera C, et al. Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain. J Clin Exp Dermatol Res. 2014;5(5):231doi: 10.4172/2155-9554.1000231.
Aguilera, P., Malvehy, J., Carrera, C., Palou, J., Puig-Butillé, J. A., Alòs, L., Badenas, C., & Puig, S. (2014). Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain. Journal of clinical & experimental dermatology research, 5(5), 231. https://doi.org/10.4172/2155-9554.1000231
Aguilera, Paula, et al. "Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain." Journal of clinical & experimental dermatology research vol. 5,5 (2014): 231. doi: https://doi.org/10.4172/2155-9554.1000231
Aguilera P, Malvehy J, Carrera C, Palou J, Puig-Butillé JA, Alòs L, Badenas C, Puig S. Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain. J Clin Exp Dermatol Res. 2014 Sep;5(5):231. doi: 10.4172/2155-9554.1000231. PMID: 25893138; PMCID: PMC4399806.
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J Clin Exp Dermatol Res. 2014 Sep;5(5):231. doi: 10.4172/2155-9554.1000231.

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

Journal of clinical & experimental dermatology research

Paula Aguilera, Josep Malvehy, Cristina Carrera, Josep Palou, Joan Anton Puig-Butillé, Llúcia Alòs, Celia Badenas, Susana Puig

Affiliations

  1. Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
  2. Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain ; CIBER on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.
  3. CIBER on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain ; Biochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
  4. Pathology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.

PMID: 25893138 PMCID: PMC4399806 DOI: 10.4172/2155-9554.1000231

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.

Keywords: CDKN2A; Familial melanoma; Genes; Histology; Melanoma; Multiple primary; Survivin; p16

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