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 A. Leachman

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


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
Issue number3
StatePublished - Sep 2004
Externally publishedYes


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

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology


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