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

Melanoma Research
Ozlen SaglamJane L Messina

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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Citations

Dec 1, 2019·American Journal of Clinical Dermatology·Christoph WohlmuthStéphane Laframboise
Oct 1, 2019·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Shabnam ZareiThomas J Flotte
Aug 3, 2020·The American Journal of Dermatopathology·Jakob M T MoranMai P Hoang
Dec 31, 2020·International Journal of Molecular Sciences·Fulvio BorellaLeonardo Micheletti
Feb 3, 2021·Journal of Clinical Medicine·Emi DikaMaria Concetta Fargnoli
Dec 1, 2020·Journal of Lower Genital Tract Disease·Christoph WohlmuthStéphane Laframboise
Mar 13, 2021·Molecular Cancer Research : MCR·Natasa BroitAntonia L Pritchard

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Methods Mentioned

BETA
PCR
dissection
biopsy

Software Mentioned

BioAnalyzer
SAS
MuTect
Strelka
Genome Analysis ToolKit
VarSifter
Burrows Aligner
ANNOVAR

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