Tags

Type your tag names separated by a space and hit enter

Multiple melanomas after treatment for Hodgkin lymphoma in a non-Dutch p16-Leiden mutation carrier with 2 MC1R high-risk variants.
Arch Dermatol 2007; 143(4):495-9AD

Abstract

BACKGROUND

A 19-base pair germline deletion in exon 2 of the CDKN2A (cyclin-dependent kinase inhibitor 2A) gene (Leiden mutation) has been detected in Dutch families with familial melanomas. The penetrance of CDKN2A mutations varies widely and is influenced by environmental and unrelated genetic factors such as variants in the MC1R gene.

OBSERVATIONS

We describe a 25-year-old German woman who developed 8 invasive melanomas and 6 in situ melanomas after radiation therapy and polychemotherapy for Hodgkin lymphoma. Genetic testing revealed a constitutional CDKN2A Leiden mutation in the proband and her sister, mother, and mother's sister. The proband also carried high-risk MC1R variant alleles R151C and R160W, which she had inherited from her father and her mother, respectively. The less affected mutation carrier sister did not have high-risk MC1R variant alleles. Analysis of DNA from paraffin-embedded tissues showed loss of heterozygosity at CDKN2A loci in all 3 melanomas studied but not in Hodgkin lymphoma. The pedigree revealed several types of cancers on both sides of the family, but no Dutch ancestors were found. No mutations in the CDK4, B-raf, and N-ras genes were detected either in the germline or in tumors from the patient.

CONCLUSION

This study shows the variability of the penetrance of the CDKN2A Leiden mutation within the same family, which could be due to genetic or exogenous factors.

Authors+Show Affiliations

Skin Cancer Unit, German Cancer Research Center, Heidelberg, Germany.No 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

Language

eng

PubMed ID

17438182

Citation

Figl, Adina, et al. "Multiple Melanomas After Treatment for Hodgkin Lymphoma in a non-Dutch p16-Leiden Mutation Carrier With 2 MC1R High-risk Variants." Archives of Dermatology, vol. 143, no. 4, 2007, pp. 495-9.
Figl A, Thirumaran RK, Ugurel S, et al. Multiple melanomas after treatment for Hodgkin lymphoma in a non-Dutch p16-Leiden mutation carrier with 2 MC1R high-risk variants. Arch Dermatol. 2007;143(4):495-9.
Figl, A., Thirumaran, R. K., Ugurel, S., Gast, A., Hemminki, K., Kumar, R., & Schadendorf, D. (2007). Multiple melanomas after treatment for Hodgkin lymphoma in a non-Dutch p16-Leiden mutation carrier with 2 MC1R high-risk variants. Archives of Dermatology, 143(4), pp. 495-9.
Figl A, et al. Multiple Melanomas After Treatment for Hodgkin Lymphoma in a non-Dutch p16-Leiden Mutation Carrier With 2 MC1R High-risk Variants. Arch Dermatol. 2007;143(4):495-9. PubMed PMID: 17438182.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple melanomas after treatment for Hodgkin lymphoma in a non-Dutch p16-Leiden mutation carrier with 2 MC1R high-risk variants. AU - Figl,Adina, AU - Thirumaran,Ranjit K, AU - Ugurel,Selma, AU - Gast,Andreas, AU - Hemminki,Kari, AU - Kumar,Rajiv, AU - Schadendorf,Dirk, PY - 2007/4/18/pubmed PY - 2007/5/26/medline PY - 2007/4/18/entrez SP - 495 EP - 9 JF - Archives of dermatology JO - Arch Dermatol VL - 143 IS - 4 N2 - BACKGROUND: A 19-base pair germline deletion in exon 2 of the CDKN2A (cyclin-dependent kinase inhibitor 2A) gene (Leiden mutation) has been detected in Dutch families with familial melanomas. The penetrance of CDKN2A mutations varies widely and is influenced by environmental and unrelated genetic factors such as variants in the MC1R gene. OBSERVATIONS: We describe a 25-year-old German woman who developed 8 invasive melanomas and 6 in situ melanomas after radiation therapy and polychemotherapy for Hodgkin lymphoma. Genetic testing revealed a constitutional CDKN2A Leiden mutation in the proband and her sister, mother, and mother's sister. The proband also carried high-risk MC1R variant alleles R151C and R160W, which she had inherited from her father and her mother, respectively. The less affected mutation carrier sister did not have high-risk MC1R variant alleles. Analysis of DNA from paraffin-embedded tissues showed loss of heterozygosity at CDKN2A loci in all 3 melanomas studied but not in Hodgkin lymphoma. The pedigree revealed several types of cancers on both sides of the family, but no Dutch ancestors were found. No mutations in the CDK4, B-raf, and N-ras genes were detected either in the germline or in tumors from the patient. CONCLUSION: This study shows the variability of the penetrance of the CDKN2A Leiden mutation within the same family, which could be due to genetic or exogenous factors. SN - 0003-987X UR - https://www.unboundmedicine.com/medline/citation/17438182/Multiple_melanomas_after_treatment_for_Hodgkin_lymphoma_in_a_non_Dutch_p16_Leiden_mutation_carrier_with_2_MC1R_high_risk_variants_ L2 - https://jamanetwork.com/journals/jamadermatology/fullarticle/10.1001/archderm.143.4.495 DB - PRIME DP - Unbound Medicine ER -