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Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype.
Melanoma Res 2010; 20(4):266-72MR

Abstract

Phenotypic characteristics were examined in melanoma-prone southern Swedish CDKN2A (p16-113insArg/p14ARF-128insSer) mutation families, in relation to the CDKN2A genotype, nevi, clinically atypical nevi (CAN) and melanoma. Individuals from eight melanoma-prone families, with index patients carrying the CDKN2A mutation, were offered skin examinations and genotyping (CDKN2A and MC1R). Ninety-three individuals above 18 years of age participated; 29 invasive melanomas in 16 patients were recorded, all in the 38 verified CDKN2A mutation carriers. Median age at diagnosis was 36 years. Several MC1R variants were observed. A significant correlation to CAN (P=0.01) and red hair colour (P=0.02) could be confirmed in melanoma patients. A positive mutation status (CDKN2A) was correlated to one or more CAN (P=0.007) but neither to blue eyes, red hair colour, heavy freckling nor high number of nevi. For mutation carriers, median total naevus count was 24 and interquartile range was 12-47 (mean 31); whereas for the whole cohort, median total naevus count was 12 and interquartile range was 5-25 (mean 22). No participant fulfilled the atypical mole syndrome phenotype criteria. Melanomas were diagnosed only in mutation carriers, and melanoma diagnosis was statistically correlated to the presence of one or more CAN and red hair colour, supporting the possible synergistic effect of a MC1R mutation on increased risk of melanoma in patients with a CDKN2A mutation. Family history, with verified tumour diagnoses, remains an important clinical tool for finding mutation carriers for referral to clinical geneticists and simultaneous presence of CAN in probable mutation carriers might strengthen this indication. The atypical mole syndrome phenotype was, however, not verified in the studied families and total naevus counts were low.

Authors+Show Affiliations

Department of Clinical Sciences, Division of Dermatology, Lund Melanoma Study Group, Lund University, Lund, Sweden. Kari.Nielsen@med.lu.seNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20526219

Citation

Nielsen, Kari, et al. "Swedish CDKN2A Mutation Carriers Do Not Present the Atypical Mole Syndrome Phenotype." Melanoma Research, vol. 20, no. 4, 2010, pp. 266-72.
Nielsen K, Harbst K, Måsbäck A, et al. Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype. Melanoma Res. 2010;20(4):266-72.
Nielsen, K., Harbst, K., Måsbäck, A., Jönsson, G., Borg, A., Olsson, H., & Ingvar, C. (2010). Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype. Melanoma Research, 20(4), pp. 266-72. doi:10.1097/CMR.0b013e3283341339.
Nielsen K, et al. Swedish CDKN2A Mutation Carriers Do Not Present the Atypical Mole Syndrome Phenotype. Melanoma Res. 2010;20(4):266-72. PubMed PMID: 20526219.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype. AU - Nielsen,Kari, AU - Harbst,Katja, AU - Måsbäck,Anna, AU - Jönsson,Göran, AU - Borg,Ake, AU - Olsson,Håkan, AU - Ingvar,Christian, PY - 2010/6/8/entrez PY - 2010/6/8/pubmed PY - 2010/10/26/medline SP - 266 EP - 72 JF - Melanoma research JO - Melanoma Res. VL - 20 IS - 4 N2 - Phenotypic characteristics were examined in melanoma-prone southern Swedish CDKN2A (p16-113insArg/p14ARF-128insSer) mutation families, in relation to the CDKN2A genotype, nevi, clinically atypical nevi (CAN) and melanoma. Individuals from eight melanoma-prone families, with index patients carrying the CDKN2A mutation, were offered skin examinations and genotyping (CDKN2A and MC1R). Ninety-three individuals above 18 years of age participated; 29 invasive melanomas in 16 patients were recorded, all in the 38 verified CDKN2A mutation carriers. Median age at diagnosis was 36 years. Several MC1R variants were observed. A significant correlation to CAN (P=0.01) and red hair colour (P=0.02) could be confirmed in melanoma patients. A positive mutation status (CDKN2A) was correlated to one or more CAN (P=0.007) but neither to blue eyes, red hair colour, heavy freckling nor high number of nevi. For mutation carriers, median total naevus count was 24 and interquartile range was 12-47 (mean 31); whereas for the whole cohort, median total naevus count was 12 and interquartile range was 5-25 (mean 22). No participant fulfilled the atypical mole syndrome phenotype criteria. Melanomas were diagnosed only in mutation carriers, and melanoma diagnosis was statistically correlated to the presence of one or more CAN and red hair colour, supporting the possible synergistic effect of a MC1R mutation on increased risk of melanoma in patients with a CDKN2A mutation. Family history, with verified tumour diagnoses, remains an important clinical tool for finding mutation carriers for referral to clinical geneticists and simultaneous presence of CAN in probable mutation carriers might strengthen this indication. The atypical mole syndrome phenotype was, however, not verified in the studied families and total naevus counts were low. SN - 1473-5636 UR - https://www.unboundmedicine.com/medline/citation/20526219/Swedish_CDKN2A_mutation_carriers_do_not_present_the_atypical_mole_syndrome_phenotype_ L2 - http://Insights.ovid.com/pubmed?pmid=20526219 DB - PRIME DP - Unbound Medicine ER -