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Updated: Aug 18, 2026

Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
06:09

Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells

Published on: June 7, 2019

Role of the CDKN2A locus in patients with multiple primary melanomas

Susana Puig1, Josep Malvehy, Cèlia Badenas

  • 1Dermatology Department, Hospital Clínic, Villarroel 170, 08036 Barcelona, Spain. spuig@clinic.ub.es

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|April 30, 2005
PubMed
Abstract

Insights

Genetic screening for CDKN2A mutations is recommended for multiple primary melanoma (MPM) patients, as these mutations are linked to earlier onset and increased melanoma risk. Early detection programs are crucial for high-risk individuals.

Area of Science:

  • Genetics
  • Dermatology
  • Oncology

Background:

  • Multiple primary melanoma (MPM) presents a significant clinical challenge.
  • Understanding the genetic basis of MPM is crucial for risk stratification and early detection.

Purpose of the Study:

  • To investigate the involvement of melanoma susceptibility loci CDKN2A and CDK4 in patients with multiple primary melanoma (MPM).

Main Methods:

  • A consecutive case series of 104 MPM patients was analyzed.
  • Germline DNA was screened for mutations in CDKN2A and CDK4 genes.

Main Results:

  • CDKN2A germline mutations were identified in 16.3% of MPM patients.
  • Mutations were associated with earlier age of onset and a higher number of primary melanomas.
  • CDKN2A mutations were significantly more frequent in patients with a family history of melanoma and those with more than two primary melanomas.

Conclusions:

  • MPM patients are strong candidates for CDKN2A mutational screening.
  • Targeted surveillance programs, including total body photography and digital dermoscopy, are recommended for high-risk patients and their families.
  • These measures can lead to early melanoma detection and improved phenotypic characterization.

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