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 onBRAF,NRASandc-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 inBRAFandc-KITwere 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, andBRAFmutant status did not affect survival. Standard management typically involves immunotherapy. Cases withBRAForc-KITmutations may be considered for targeted therapies. Unfortunately, MM prognosis remains unfavorable, with a less than 50% survival rate at 2 years.
黏膜黑色素瘤是一种罕见的黑色素瘤亚型，主要累及头颈部、肛门直肠区及外阴阴道区的黏膜表面。本研究旨在总结某三级医院在黏膜黑色素瘤诊断、治疗、进展监测、基因突变及预后预测方面的临床经验。我们开展了一项基于登记系统的队列研究，纳入2012年至2022年确诊的黏膜黑色素瘤病例，并回顾性分析了BRAF、NRAS和c-KIT基因的体细胞突变特征。通过Kaplan-Meier曲线、时序检验和Cox回归分析，我们对35例患者（女性占63%，中位年龄70岁）的预后因素和生存结局进行了探究。结果显示黏膜黑色素瘤主要发生于外阴阴道区域（48.6%）。确诊时28.6%的患者存在淋巴结转移，31.4%伴有远处转移。基因检测发现BRAF突变率为9%（3/35），c-KIT突变率为33%（2/6）。71.4%的患者接受了手术治疗，大多数（65.7%）接受了全身系统治疗。较低疾病分期、较浅Breslow浸润深度及手术切除与改善总生存期相关。值得注意的是，年龄、性别、放疗及BRAF突变状态对生存率无显著影响。目前标准治疗方案通常采用免疫治疗，而存在BRAF或c-KIT突变的病例可考虑靶向治疗。遗憾的是，黏膜黑色素瘤预后仍然较差，2年生存率不足50%。
Mucosal Melanoma Clinical Management and Prognostic Implications: A Retrospective Cohort Study
肿瘤(癌症)患者之家