Current Trends in Mucosal Melanomas: An Overview

Simple Summary This review provides an updated overview about molecular features, clinical advancements and therapeutic directions of the primary mucosal melanoma which represents a rare and heterogeneous malignancy characterized by a poor prognosis. Primary mucosal melanomas (MMs) are uncommon tumors originating from melanocytes located in the mucous membranes at various anatomic sites within the body. MM significantly differs from cutaneous melanoma (CM) regarding epidemiology, genetic profile, clinical presentation, and response to therapies. Despite these differences, that have important implications for both disease diagnosis and prognosis, MMs are usually treated in the same way as CM but exhibit a lower response rate to immunotherapy leading to a poorer survival rate. Furthermore, a high inter-patient variability can be observed in relation to therapeutic response. Recently, novel omics techniques have evidenced that MM lesions have different genomic, molecular, and metabolic landscapes as compared with CM lesions, thus explaining the heterogeneity of the response. Such specific molecular aspects might be useful to identify new biomarkers aimed at improving the diagnosis and selection of MM patients who could benefit from immunotherapy or targeted therapy. In this review, we have focused on relevant molecular and clinical advancements for the different MM subtypes in order to describe the updated knowledge relating to main diagnostic, clinical, and therapeutic implications as well as to provide hints on likely future directions.

Automated summary

This review summarizes the molecular features, clinical advancements, and therapeutic directions of primary mucosal melanoma (MM), a rare and heterogeneous malignancy with poor prognosis. MM differs significantly from cutaneous melanoma in terms of epidemiology, genetic profile, clinical presentation, and response to therapies. Recent omics techniques have revealed distinct genomic, molecular, and metabolic landscapes of MM lesions compared to cutaneous lesions, which explains the heterogeneity of treatment response. The specific molecular aspects of MM may help identify new biomarkers for improved diagnosis and selection of patients suitable for immunotherapy or targeted therapy.