Molecular pathogenesis of cutaneous melanocytic neoplasms

Annu Rev Pathol. 2009;4:551-79. doi: 10.1146/annurev.pathol.3.121806.151541.


Melanoma is the deadliest form of skin cancer without an effective treatment. An understanding of the genetic basis of melanoma has recently shed light on some of the mechanisms of melanomagenesis. This review explores the major genes involved in familial and sporadic cutaneous melanoma with an emphasis on CDKN2A, CDK4, MC1R, and MAPK pathway targets (e.g., RAS and BRAF), apoptosis regulators (e.g., BCL-2, AKT, and APAF-1), and the tumor-suppressor genes TP53 and PTEN. New directions for therapeutics based on our current knowledge of the genes implicated in melanoma are also discussed.

Publication types

  • Review

MeSH terms

  • Animals
  • Apoptosis / genetics
  • Cell Lineage / genetics
  • Cell Transformation, Neoplastic / genetics*
  • Cell Transformation, Neoplastic / metabolism
  • Cell Transformation, Neoplastic / pathology
  • Gene Expression Regulation, Neoplastic*
  • Genes, Tumor Suppressor
  • Genetic Predisposition to Disease
  • Humans
  • Melanocytes / metabolism*
  • Melanocytes / pathology
  • Melanoma / genetics*
  • Melanoma / metabolism
  • Melanoma / pathology
  • Melanoma / therapy
  • Pedigree
  • Signal Transduction / genetics
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / metabolism
  • Skin Neoplasms / pathology
  • Skin Neoplasms / therapy