Epidemiology

 A positive family history of the disease is among the most established risk factors for CMM; it is estimated that 10% of CMM cases result from an inherited predisposition. Mutations in CDKN2A and CDK4 genes have been shown to confer an increased risk of CMM and account for only 20%-25% of families with multiple cases.

Variants

 myxoid melanoma (#11807440#, #9711669#)
 desmoplastic melanoma
 melanoma with ganglioneuroblastic differentiation (#10328091#)

Susceptibility loci

 CDKN2A mutations
 CDK4 mutations
 1p22 (#12844286#)

LOH

 9p21: CDKN2A or p16(INK4) inactivation (MIM.600160)

Prognosis

 tumor thickness

• Clark level system
   ulcerative state

Return to: melanocytic tumors

References

 Chudnovsky Y, Khavari PA, Adams AE. Melanoma genetics and the development of rational therapeutics. J Clin Invest. 2005 Apr;115(4):813-24. PMID: #15841168#

 Chin L. The genetics of malignant melanoma: lessons from mouse and man. Nat Rev Cancer. 2003 Aug;3(8):559-70. PMID: #12894244#

 Merlino G, Noonan FP. Modeling gene-environment interactions in malignant melanoma. Trends Mol Med. 2003 Mar;9(3):102-8. PMID: #12657431#

 Satyamoorthy K, Bogenrieder T, Herlyn M. No longer a molecular black box--new clues to apoptosis and drug resistance in melanoma. Trends Mol Med. 2001 May;7(5):191-4. PMID: #11325619#