Department of Obstetrics and Gynecology, Nantes University Hospital, Nantes, France.
INSERM U 1232, Nantes, France.
Exp Dermatol. 2018 Feb;27(2):210-213. doi: 10.1111/exd.13472. Epub 2017 Dec 21.
Data on BRAF, NRAS and KIT mutations are scarce in patients with vulvo-vaginal melanomas and are associated with important therapeutic issues. We investigated their prevalence in a cohort of patients with female lower genital tract melanomas between 2003 and 2017. Of the 22 patients, 5 (22.7%) harboured a BRAF mutation, which was much higher than the rate of 5% reported in the literature. One patient, who was tested negative on the primary melanoma, had a NRAS mutation in a cutaneous metastasis. Our data provide a rationale for prospective and repeated mutations testing in female lower genital tract melanomas.
BRAF、NRAS 和 KIT 基因突变的数据在外阴阴道黑色素瘤患者中很少见，并且与重要的治疗问题相关。我们调查了 2003 年至 2017 年间一组女性下生殖道黑色素瘤患者的这些突变的发生率。在 22 名患者中，有 5 名（22.7%）存在 BRAF 突变，远高于文献报道的 5%的发生率。一名在原发性黑色素瘤检测为阴性的患者，在皮肤转移灶中存在 NRAS 突变。我们的数据为女性下生殖道黑色素瘤的前瞻性和重复突变检测提供了依据。
