Library · Neoplasm
Familial melanoma
Make it clearer
Familial melanoma, which in textbooks goes by familial atypical multiple mole melanoma syndrome, is an uncommon inherited disorder. People who have it tend to have many atypical nevi, that is, moles with irregular shape, color, and size, along with a significantly higher lifetime risk of melanoma.
What is inherited is a mutation in a tumor suppressor gene, one of the genes that put the brakes on cell growth. The ones most often involved are CDKN2A and CDK4, and receiving the mutated copy from one parent is enough: that is what autosomal dominant inheritance means.
With that brake defective, the melanocyte, the cell that gives skin its color, loses some control over its own cycle of division. The cell cycle brake is defective from birth, and the melanocyte grows with less control from the start. Out of that come the dysplastic nevi, which are precursor lesions: the step before a melanoma can develop.
In brief
Familial melanoma is a rare inherited disorder with numerous atypical nevi and a significantly increased lifetime risk of melanoma.
It results from inherited germline mutations in tumor suppressor genes, mainly CDKN2A and CDK4, usually with autosomal dominant inheritance.
Those mutations disrupt cell cycle control in the melanocyte, and the dysplastic nevi that appear are precursor lesions of melanoma.
The cell cycle brake is defective from birth, and the melanocyte grows with less control from the start.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingFamilial Atypical Multiple Mole and Melanoma Syndrome, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated