Clavero-Rovira Laia, Gómez-Tomás Álvaro, Bassas-Freixas Patricia, Bodet Domingo, Ferrer Berta, Hernández-Losa Javier, Muñoz-Couselo Eva, Pérez-Benavente Assumpció, García-Patos Vicente, Ferrándiz-Pulido Carla
Department of Dermatology, University Hospital Vall d'Hebron, 08035 Barcelona, Spain.
Facultad de Medicina, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.
Cancers (Basel). 2024 Jan 3;16(1):227. doi: 10.3390/cancers16010227.
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 , and 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 and 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 mutant status did not affect survival. Standard management typically involves immunotherapy. Cases with or mutations 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(MM)是一种罕见的黑色素瘤亚型,累及头颈部、肛门直肠区域及外阴阴道区域的黏膜表面。我们旨在介绍我们在一家三级医院关于MM诊断、管理、进展监测、突变及预后预测因素方面的经验。我们进行了一项基于登记的队列研究,纳入2012年至2022年诊断的MM病例,并对 、 和 的体细胞突变进行回顾性特征分析。我们采用Kaplan-Meier曲线、对数秩检验和Cox回归分析,在35例患者队列中探索预后因素和生存结局,这些患者主要为女性(63%),中位年龄70岁。MM主要发生在外阴阴道区域(48.6%)。诊断时,28.6%有淋巴结受累,31.4%也有远处转移。 和 突变分别在3/35例(9%)和2/6例患者(33%)中被鉴定出来。71.4%的患者接受了手术,大多数接受了全身治疗(65.7%)。较低的疾病分期、较薄的Breslow深度和手术切除与总体生存率提高相关。值得注意的是,年龄、性别、放疗和 突变状态不影响生存。标准治疗通常包括免疫治疗。有 或 突变的病例可考虑进行靶向治疗。不幸的是,MM的预后仍然不佳,2年生存率低于50%。