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. 2018 Dec;28(6):586-591.
doi: 10.1097/CMR.0000000000000480.

Female genitourinary tract melanoma: mutation analysis with clinicopathologic correlation: a single-institution experience

Ozlen Saglam  1 , Syeda M H Naqvi  2 , Yonghong Zhang  3 , Tania Mesa  4 , Jamie K Teer  2 , Sean Yoder  4 , Jae Lee  2 , Jane Messina  1
Affiliations

Female genitourinary tract melanoma: mutation analysis with clinicopathologic correlation: a single-institution experience

Ozlen Saglam et al. Melanoma Res. 2018 Dec.

Abstract

Female genitourinary tract melanoma (FGTM) is a rare and often-fatal form of mucosal melanoma. We describe our institutional experience with 55 cases of FGTM, 16 of which were evaluated with next-generation sequencing targeting 151 cancer-associated genes. Tumors tended to be thicker than conventional melanoma at presentation (median: 3.2 mm), were frequently ulcerated (50%), and characterized by incomplete initial resections. Regional lymph nodes showed tumor involvement at presentation in 28% of cases. With a median follow-up of 23.6 months, the median recurrence free survival was 14.5 months and the median overall survival was 29.6 months. Genomic analysis revealed mutually exclusive mutations in TP53 and KIT in 25%, while 19% of cases showed BRAF mutation. NRAS mutation was found in 13% of cases. Mutation in ATRX, previously undescribed in mucosal melanoma, was seen in three (10%) of 16 patients. Only invasive melanoma cases were included in statistical analyses. Patients with three or more mutations had marginally worse overall survival rates than those with two or less (P=0.07). Further studies are required for potential adjuvant treatment modalities to improve survival outcomes of FGTM.

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Conflict of interest statement

Conflict of interest: None declared

Figures

Figure 1
Figure 1
Representative examples of female genital tract melanomas showing no distinct morphology based on mutation status. A: ATRX-mutated vulvar melanoma. B: BRAF-mutated vulvar melanoma. C: KIT-mutated vulvar melanoma. D: NRAS-mutated vaginal melanoma.
Figure 1
Figure 1
Representative examples of female genital tract melanomas showing no distinct morphology based on mutation status. A: ATRX-mutated vulvar melanoma. B: BRAF-mutated vulvar melanoma. C: KIT-mutated vulvar melanoma. D: NRAS-mutated vaginal melanoma.
Figure 1
Figure 1
Representative examples of female genital tract melanomas showing no distinct morphology based on mutation status. A: ATRX-mutated vulvar melanoma. B: BRAF-mutated vulvar melanoma. C: KIT-mutated vulvar melanoma. D: NRAS-mutated vaginal melanoma.
Figure 1
Figure 1
Representative examples of female genital tract melanomas showing no distinct morphology based on mutation status. A: ATRX-mutated vulvar melanoma. B: BRAF-mutated vulvar melanoma. C: KIT-mutated vulvar melanoma. D: NRAS-mutated vaginal melanoma.
See this image and copyright information in PMC

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