Prognosis of CDKN2A germline mutation in patients with familial melanoma: a systematic review and meta-analysis

  1. Taibo, Ana 2
  2. Paradela, Sabela 2
  3. Suanzes-Hernández, Jorge 1
  4. Balboa-Barreiro, Vanesa 1
  5. Amado-Bouza, Javier 1
  6. Fonseca, Eduardo 2
  1. 1 Research Support Unit, University Hospital of A Coruña, Instituto de Investigación Biomédica de A Coruña (INIBIC), Spain
  2. 2 Department of Dermatology, University Hospital of A Coruña
Revista:
Melanoma Research

ISSN: 0960-8931

Ano de publicación: 2023

Tipo: Artigo

DOI: 10.1097/CMR.0000000000000920 GOOGLE SCHOLAR lock_openAcceso aberto editor

Outras publicacións en: Melanoma Research

Resumo

Familial melanoma is defined as melanoma occurring in two or more first-degree relatives by the WHO. Germline mutations are isolated in a subset of them. It is well known that CDKN2A is the most frequently mutated high-risk gene in familial melanoma, however, the prognosis it confers to patients who carry its mutations is still controversial. This review aims to assess whether germline mutations imply a worse prognosis in patients with familial melanoma. A systematic review and meta-analysis were conducted by searching the electronic databases PubMed/MEDLINE, EMBASE, and Cochrane Library. Data from 3 independent populations were eventually included in the meta-analysis, involving 291 cases and 57 416 controls. The results of this systematic review and meta-analysis suggest that there is a tendency for patients with germline mutations in the CDKN2A gene to have a worse overall survival (HR = 1.30, 95% CI = 0.99-1.69, P = 0.05) and melanoma-specific survival (HR = 1.5, 95% CI = 0.97-2.31, P = 0.07). Carrier patients would not only have more incidence of melanoma and a higher risk of a second melanoma, but they also seem to have a worse prognosis. The inclusion of gene panel testing in clinical practice and the collaboration within consortia are needed to provide further evidence on the prognosis of these patients.

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