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 Leachman

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)1409-1412
Number of pages4
JournalArchives of Dermatology
Volume143
Issue number11
DOIs
StatePublished - Nov 2007
Externally publishedYes

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Cyclin-Dependent Kinase Inhibitor p16
Ionizing Radiation
Melanoma
Receptor, Melanocortin, Type 1
Mutation
Nevus
Hair Color
Bombs
Mosaicism
Melanocytes
Environmental Exposure
Pedigree
Ultraviolet Rays
Fluorescence In Situ Hybridization
Upper Extremity
Hair
Physical Examination
Sequence Analysis
Fibroblasts
Skin

ASJC Scopus subject areas

  • Dermatology

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Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. / Eliason, Mark J.; Hansen, Chris B.; Hart, Marybeth; Porter-Gill, Patricia; Chen, Wei; Sturm, Richard A.; Bowen, Glen; Florell, Scott R.; Harris, Ronald M.; Cannon-Albright, Lisa A.; Swinyer, Leonard; Leachman, Sancy.

In: Archives of Dermatology, Vol. 143, No. 11, 11.2007, p. 1409-1412.

Research output: Contribution to journalArticle

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, S 2007, 'Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation', Archives of Dermatology, vol. 143, no. 11, pp. 1409-1412. https://doi.org/10.1001/archderm.143.11.1409
Eliason MJ, Hansen CB, Hart M, Porter-Gill P, Chen W, Sturm RA et al. Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. Archives of Dermatology. 2007 Nov;143(11):1409-1412. https://doi.org/10.1001/archderm.143.11.1409
Eliason, Mark J. ; Hansen, Chris B. ; Hart, Marybeth ; Porter-Gill, Patricia ; Chen, Wei ; Sturm, Richard A. ; Bowen, Glen ; Florell, Scott R. ; Harris, Ronald M. ; Cannon-Albright, Lisa A. ; Swinyer, Leonard ; Leachman, Sancy. / Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. In: Archives of Dermatology. 2007 ; Vol. 143, No. 11. pp. 1409-1412.
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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.",
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