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

Abstract：

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.

journal_name

J Am Acad Dermatol

journal_title

Journal of the American Academy of Dermatology

authors

Tseng D,Kim J,Warrick A,Nelson D,Pukay M,Beadling C,Heinrich M,Selim MA,Corless CL,Nelson K

doi

10.1016/j.jaad.2014.03.033

subject

Has Abstract

pub_date

2014-08-01 00:00:00

pages

229-36

issue

2

eissn

0190-9622

issn

1097-6787

pii

S0190-9622(14)01267-5

journal_volume

71

pub_type

杂志文章

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