title: 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.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
authors.forename: Paula
authors.initials: P
authors.lastname: Aguilera
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain ; CIBER on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Malvehy
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain ; CIBER on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Carrera
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Palou
authors.affiliation: CIBER on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain ; Biochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
authors.forename: Joan Anton
authors.initials: JA
authors.lastname: Puig-Butillé
authors.affiliation: Pathology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
authors.forename: Llúcia
authors.initials: L
authors.lastname: Alòs
authors.affiliation: CIBER on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain ; Biochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
authors.forename: Celia
authors.initials: C
authors.lastname: Badenas
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain ; CIBER on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Susana
authors.initials: S
authors.lastname: Puig
keywords: CDKN2A; Familial melanoma; Genes; Histology; Melanoma; Multiple primary; Survivin; p16