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lüll Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation Eliason MJ; Hansen CB; Hart M; Porter-Gill P; Chen W; Sturm RA; Bowen G; Florell SR; Harris RM; Cannon-Albright LA; Swinyer L; Leachman SAArch Dermatol 2007[Nov]; 143 (11): 1409-12BACKGROUND: 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.|*Genes, p16[MESH]|*Heterozygote[MESH]|*Mutation[MESH]|*Neoplasms, Radiation-Induced[MESH]|5' Untranslated Regions[MESH]|Adult[MESH]|Arginine[MESH]|Cysteine[MESH]|Environmental Exposure[MESH]|Female[MESH]|Genetic Predisposition to Disease[MESH]|Hair Color/genetics[MESH]|Humans[MESH]|Melanoma/*etiology/genetics/pathology[MESH]|Neoplasms, Multiple Primary/*etiology/genetics/pathology[MESH]|Nuclear Weapons[MESH]|Receptor, Melanocortin, Type 1/*genetics[MESH]|Skin Neoplasms/*etiology/genetics/pathology[MESH] |