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Abstract：
Mucosal melanoma (MM) is an uncommon melanoma subtype affecting mucosal surfaces of the head and neck, anorectal region, and vulvovaginal area. We aimed to present our experience at a tertiary-level hospital regarding MM diagnosis, management, monitoring of progression, mutations, and outcome predictors. We performed a registry-based cohort study including MM cases diagnosed from 2012 to 2022 and retrospectively characterized somatic mutations on BRAF, NRAS and c-KIT. We employed Kaplan-Meier curves, log-rank tests, and Cox regression analysis to explore prognostic factors and survival outcomes in a cohort of 35 patients, mainly women (63%) with a median age of 70 years. Predominantly, MM occurred in the vulvovaginal region (48.6%). At diagnosis, 28.6% had lymph node involvement, and 31.4% also had distant metastasis. Mutations in BRAF and c-KIT were identified in 3/35 (9%) and 2/6 patients (33%), respectively. Surgery was performed in 71.4% of patients, and most received systemic treatment (65.7%). Lower disease stage, thinner Breslow depth, and surgical resection were associated with improved overall survival. Notably, age, sex, radiotherapy, and BRAF mutant status did not affect survival. Standard management typically involves immunotherapy. Cases with BRAF or c-KIT mutations may be considered for targeted therapies. Unfortunately, MM prognosis remains unfavorable, with a less than 50% survival rate at 2 years.
摘要：
粘膜黑色素瘤（MM）是一种罕见的黑色素瘤亚型，影响头颈部的粘膜表面，肛门直肠区域,和外阴阴道区域。我们的目的是介绍我们在三级医院关于MM诊断的经验，管理,监测进展，突变,和结果预测因子。我们进行了一项基于注册的队列研究，包括2012年至2022年诊断的MM病例，并回顾性地表征了BRAF的体细胞突变。NRAS和C-KIT。我们采用了Kaplan-Meier曲线,对数秩测试，和Cox回归分析，以探讨35例患者的预后因素和生存结果，主要是女性（63%），年龄中位数为70岁。主要是,MM发生在外阴阴道区（48.6%）。诊断时,28.6%有淋巴结受累，31.4%也有远处转移。在3/35（9%）和2/6（33%）患者中发现BRAF和c-KIT突变，分别。71.4%的患者进行了手术，大多数接受了全身治疗（65.7%）。疾病分期较低，较薄的Breslow深度，手术切除与总生存率改善相关.值得注意的是,年龄,性别,放射治疗,和BRAF突变状态不影响生存。标准管理通常涉及免疫疗法。具有BRAF或c-KIT突变的病例可考虑用于靶向治疗。不幸的是,MM预后仍然不利，2年生存率低于50%。
