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

Area of Science:

• Genetics and Environmental Health
• Melanoma Pathogenesis
• Radiation Oncology

Background:

• Investigates the link between ionizing radiation and melanoma risk.
• Highlights increased susceptibility in individuals with CDKN2A (cyclin-dependent kinase inhibitor 2A) mutations.
• Examines a patient with familial melanoma and a history of nuclear bomb testing exposure.

Observation:

• Patient presented with multiple primary melanomas on the right side of the body.
• Physical examination revealed fair skin, red hair, and numerous nevi.
• Genetic analysis identified a deleterious CDKN2A mutation (G-34T) and an MC1R (melanocortin 1 receptor) red hair variant (R151C).

Findings:

• The patient possesses a known melanoma predisposition gene mutation (CDKN2A) and a red hair color variant (MC1R).
• The patient developed multiple melanomas following exposure to atmospheric nuclear bomb testing.
• Genetic analysis ruled out mosaicism for the mutations.

Implications:

• Individuals with combined CDKN2A and MC1R mutations exhibit heightened susceptibility to environmental carcinogens.
• Careful environmental exposure assessment in genetically vulnerable populations may identify novel cancer-promoting agents.
• Ionizing radiation is suggested as a potential melanoma-promoting agent in susceptible individuals.