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Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation.
Arch Dermatol 2007; 143(11):1409-12AD

Abstract

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.

Authors+Show Affiliations

Department of Dermatology, Health Sciences Center, University of Utah, Salt Lake City, UT 84112-5550, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18025365

Citation

Eliason, Mark J., et al. "Multiple Primary Melanomas in a CDKN2A Mutation Carrier Exposed to Ionizing Radiation." Archives of Dermatology, vol. 143, no. 11, 2007, pp. 1409-12.
Eliason MJ, Hansen CB, Hart M, et al. Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. Arch Dermatol. 2007;143(11):1409-12.
Eliason, M. J., Hansen, C. B., Hart, M., Porter-Gill, P., Chen, W., Sturm, R. A., ... Leachman, S. A. (2007). Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. Archives of Dermatology, 143(11), pp. 1409-12.
Eliason MJ, et al. Multiple Primary Melanomas in a CDKN2A Mutation Carrier Exposed to Ionizing Radiation. Arch Dermatol. 2007;143(11):1409-12. PubMed PMID: 18025365.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. AU - Eliason,Mark J, AU - Hansen,Chris B, AU - Hart,Marybeth, AU - Porter-Gill,Patricia, AU - Chen,Wei, AU - Sturm,Richard A, AU - Bowen,Glen, AU - Florell,Scott R, AU - Harris,Ronald M, AU - Cannon-Albright,Lisa A, AU - Swinyer,Leonard, AU - Leachman,Sancy A, PY - 2007/11/21/pubmed PY - 2007/12/21/medline PY - 2007/11/21/entrez SP - 1409 EP - 12 JF - Archives of dermatology JO - Arch Dermatol VL - 143 IS - 11 N2 - 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. SN - 1538-3652 UR - https://www.unboundmedicine.com/medline/citation/18025365/Multiple_primary_melanomas_in_a_CDKN2A_mutation_carrier_exposed_to_ionizing_radiation_ L2 - https://jamanetwork.com/journals/jamadermatology/fullarticle/10.1001/archderm.143.11.1409 DB - PRIME DP - Unbound Medicine ER -