Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation

Mark J. Eliason, Chris B. Hansen, Marybeth Hart, Patricia Porter-Gill, Wei Chen, Richard A. Sturm, Glen Bowen, Scott R. Florell, Ronald M. Harris, Lisa A. Cannon-Albright, Leonard Swinyer, Sancy A. Leachman

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Background: Recent research has shown a possible causal relationship between ionizing radiation exposure and melanoma. Individuals with mutations in CDKN2A (cyclin-dependent kinase inhibitor 2A), the major melanoma predisposition gene, have an increased susceptibility to melanoma-promoting exposures, such as UV light. We describe a patient from a familial melanoma pedigree with 7 primary melanomas on the right side of her body, the first occurring 5 years after exposure to atmospheric nuclear bomb testing in the 1950s. Observations: Physical examination revealed phototype I skin, red hair, and 26 nevi (14 on the right and 12 on the left side of her body). One nevus was larger than 5 mm, and 2 were clinically atypical. Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G?34T) and homozygosity for a red hair color variant in MC1R (melanocortin 1 receptor) (R151C). Fluorescence in situ hybridization analysis of blood, fibroblasts, and melanocytes from both upper extremities ruled out mosaicism. Conclusions: Individuals such as this patient, who has CDKN2A and MC1R mutations, are likely to be more susceptible to environmental insults. A careful review of environmental exposures in these vulnerable cases may reveal cancer-promoting agents, such as ionizing radiation, that go unnoticed in less susceptible populations.

Original languageEnglish (US)
Pages (from-to)1409-1412
Number of pages4
JournalArchives of Dermatology
Issue number11
StatePublished - Nov 2007
Externally publishedYes

ASJC Scopus subject areas

  • Dermatology


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