Current Trends in Mucosal Melanomas: An Overview

Abstract

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.

Neoadjuvant ipilimumab plus nivolumab therapy as a potential organ preservation strategy in mucosal melanoma: case report

“…Furthermore, while complete surgical resection is associated with a somewhat better outcome, there is no evidence that radical resection leads to improved overall survival rates ( 4 ). Even if resection with negative tumor margins is achievable, local recurrence within a year post-operation is common and is often accompanied with disseminated disease ( 20 , 21 ). It should be noted that both of the cases in this report were suspected to have regional lymph node involvment, decreasing the potential for a curative surgical resection.…”

Diagnostik und Therapie von Schleimhautmelanomen der Nase/Nasennebenhöhlen

“…Diese Unterschiede können eine Erklärung für die unterschiedlichen Krankheitsverläufe der beiden Erkrankungen liefern. Häufige Veränderungen beim SM sind die Aktivierung des PI3K-Akt-Signalwegs durch Mutationen der Gene NRAS oder PTEN, des MAPK-Signalwegs durch Mutationen der Gene KIT, BRAF und NRAS oder die Mutation des CDK4-Gens [18]. Wie aus ▶ Tab.…”

“…3 und ▶ Abb. 3 hervorgeht, können bei Schleimhautmelanomen verschiedene Treibergene mutiert sein, die als möglicher Angriffspunkt für eine Tumortherapie in Frage kommen können [18].…”

A Pigmented Lesion of the Vulva Revealing Aggressive Melanoma: A Case Report

“…MMs originate from melanocytes in the mucous membranes of the body [3], with approximately 50% located in the head and neck, 37% in the gastrointestinal tract, 6% in the genital tract in women, and 4% in the urinary tract [1]. Despite similarities in diagnostic and therapeutic aspects, MM and CM differ in their clinical presentations, molecular profile, treatment response, and prognosis, emphasizing the necessity to differentiate between the entities [3]. This report discusses an uncommon variant of MM in women, namely vulvar melanoma (VM), which represents approximately 1% of all melanomas [4].…”

“…According to the American Cancer Society's cancer statistics, melanomas accounted for 5% of all cancers in the United States in 2023, of which ≤2% were MM [ 2 ]. MMs originate from melanocytes in the mucous membranes of the body [ 3 ], with approximately 50% located in the head and neck, 37% in the gastrointestinal tract, 6% in the genital tract in women, and 4% in the urinary tract [ 1 ]. Despite similarities in diagnostic and therapeutic aspects, MM and CM differ in their clinical presentations, molecular profile, treatment response, and prognosis, emphasizing the necessity to differentiate between the entities [ 3 ].…”