Longitudinal assessment of the nevus phenotype in a melanoma kindred

Scott R. Florell, Laurence J. Meyer, Kenneth M. Boucher, Patricia A. Porter-Gill, Marybeth Hart, Jennica Erickson, Lisa A. Cannon-Albright, Lynn K. Pershing, Ronald M. Harris, Wolfram E. Samlowski, John J. Zone, Sancy Leachman

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Phenotypic characteristics of members of a melanoma prone kindred with a V126D CDKN2A gene mutation were monitored over approximately 15 y. Thirty-eight previously studied subjects were recruited. Participants underwent a complete skin examination by the same dermatologist who examined them initially. The size and location of all nevi were recorded on a body map diagram. Total nevus number (TNN) and total nevus density (TND) were determined. CDKN2A sequencing verified 13 mutation carriers and 16 non-carriers. Nine participants were spouse controls without a history of melanoma and did not carry a CDKN2A mutation. Mutation carriers demonstrated a greater mean TNN and TND at initial and follow-up examinations compared with non-carriers and continued to develop nevi rather than show nevus regression seen in non-carriers and spouse controls. Non-carriers showed an intermediate nevus phenotype between mutation carriers and spouse controls. Four of the 13 mutation carriers and one non-carrier have developed invasive melanoma. Over a 15-y interval, TNN and TND were increased in mutation carriers compared with non-carriers and spouse controls. Continued accumulation of nevi in mutation carriers supports a nevogenic role for this CDKN2A mutation. An intermediate nevus phenotype in non-carrier family members suggests the presence of additional modifier genes.

Original languageEnglish (US)
Pages (from-to)576-582
Number of pages7
JournalJournal of Investigative Dermatology
Volume123
Issue number3
DOIs
StatePublished - Sep 2004
Externally publishedYes

Fingerprint

Nevus
Melanoma
Phenotype
Mutation
Spouses
Skin
Genes
Modifier Genes
p16 Genes

Keywords

  • Familial
  • p16
  • Total nevus density
  • Total nevus number

ASJC Scopus subject areas

  • Dermatology

Cite this

Florell, S. R., Meyer, L. J., Boucher, K. M., Porter-Gill, P. A., Hart, M., Erickson, J., ... Leachman, S. (2004). Longitudinal assessment of the nevus phenotype in a melanoma kindred. Journal of Investigative Dermatology, 123(3), 576-582. https://doi.org/10.1111/j.0022-202X.2004.23312.x

Longitudinal assessment of the nevus phenotype in a melanoma kindred. / Florell, Scott R.; Meyer, Laurence J.; Boucher, Kenneth M.; Porter-Gill, Patricia A.; Hart, Marybeth; Erickson, Jennica; Cannon-Albright, Lisa A.; Pershing, Lynn K.; Harris, Ronald M.; Samlowski, Wolfram E.; Zone, John J.; Leachman, Sancy.

In: Journal of Investigative Dermatology, Vol. 123, No. 3, 09.2004, p. 576-582.

Research output: Contribution to journalArticle

Florell, SR, Meyer, LJ, Boucher, KM, Porter-Gill, PA, Hart, M, Erickson, J, Cannon-Albright, LA, Pershing, LK, Harris, RM, Samlowski, WE, Zone, JJ & Leachman, S 2004, 'Longitudinal assessment of the nevus phenotype in a melanoma kindred', Journal of Investigative Dermatology, vol. 123, no. 3, pp. 576-582. https://doi.org/10.1111/j.0022-202X.2004.23312.x
Florell SR, Meyer LJ, Boucher KM, Porter-Gill PA, Hart M, Erickson J et al. Longitudinal assessment of the nevus phenotype in a melanoma kindred. Journal of Investigative Dermatology. 2004 Sep;123(3):576-582. https://doi.org/10.1111/j.0022-202X.2004.23312.x
Florell, Scott R. ; Meyer, Laurence J. ; Boucher, Kenneth M. ; Porter-Gill, Patricia A. ; Hart, Marybeth ; Erickson, Jennica ; Cannon-Albright, Lisa A. ; Pershing, Lynn K. ; Harris, Ronald M. ; Samlowski, Wolfram E. ; Zone, John J. ; Leachman, Sancy. / Longitudinal assessment of the nevus phenotype in a melanoma kindred. In: Journal of Investigative Dermatology. 2004 ; Vol. 123, No. 3. pp. 576-582.
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