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Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype.

Nielsen, Kari LU ; Harbst, Katja LU ; Måsbäck, Anna; Jönsson, Göran B LU ; Borg, Åke LU ; Olsson, Håkan LU and Ingvar, Christian LU (2010) In Melanoma Research Jul 1. p.266-272
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... (More)
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. (Less)
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organization
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type
Contribution to journal
publication status
published
subject
in
Melanoma Research
volume
Jul 1
pages
266 - 272
publisher
Lippincott Williams & Wilkins
external identifiers
  • wos:000279656300002
  • pmid:20526219
  • scopus:77954657293
ISSN
0960-8931
DOI
10.1097/CMR.0b013e3283341339
language
English
LU publication?
yes
id
3ade5892-0e1f-4015-a529-20ba7c056f2d (old id 1626325)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/20526219?dopt=Abstract
date added to LUP
2010-07-05 10:43:22
date last changed
2018-05-29 11:58:10
@article{3ade5892-0e1f-4015-a529-20ba7c056f2d,
  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.},
  author       = {Nielsen, Kari and Harbst, Katja and Måsbäck, Anna and Jönsson, Göran B and Borg, Åke and Olsson, Håkan and Ingvar, Christian},
  issn         = {0960-8931},
  language     = {eng},
  pages        = {266--272},
  publisher    = {Lippincott Williams & Wilkins},
  series       = {Melanoma Research},
  title        = {Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype.},
  url          = {http://dx.doi.org/10.1097/CMR.0b013e3283341339},
  volume       = {Jul 1},
  year         = {2010},
}