Oncogenic mutations in melanomas and benign melanocytic nevi of the female genital tract

Diane Tseng, Julie Kim, Andrea Warrick, Dylan Nelson, Marina Pukay, Carol Beadling, Michael Heinrich, Maria Angelica Selim, Christopher L. Corless, Kelly Nelson

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Background The genetic heterogeneity of melanomas and melanocytic nevi of the female genital tract is poorly understood. Objective We aim to characterize the frequency of mutations of the following genes: BRAF, NRAS, KIT, GNA11, and GNAQ in female genital tract melanomas. We also characterize the frequency of BRAF mutations in female genital tract melanomas compared with melanocytic nevi. Methods Mutational screening was performed on the following female genital tract melanocytic neoplasms: 25 melanomas, 7 benign melanocytic nevi, and 4 atypical melanocytic nevi. Results Of the 25 female genital tract melanoma specimens queried, KIT mutations were detected in 4 (16.0%), NRAS mutations in 4 (16.0%), and BRAF mutations in 2 (8.0%) samples. Two of the tumors with KIT mutations harbored double mutations in the same exon. No GNAQ or GNA11 mutations were identified among 11 melanomas screened. BRAF V600E mutations were detected in 7 of 7 benign melanocytic genital nevi (100%) and 3 of 4 atypical genital nevi (75%). Limitations Our study is limited by the small sample size of this rare subset of melanomas. Conclusion KIT, NRAS, and BRAF mutations are found in a subset of female genital tract melanomas. Screening for oncogenic mutations is important for developing and applying clinical therapies for melanomas of the female genital tract.

Original languageEnglish (US)
Pages (from-to)229-236
Number of pages8
JournalJournal of the American Academy of Dermatology
Issue number2
StatePublished - Aug 2014


  • BRAF
  • KIT
  • NRAS
  • female genital melanomas
  • female genital nevi
  • oncogenic mutations

ASJC Scopus subject areas

  • Dermatology


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