Mucosal Melanoma: Epidemiology, Clinical Features, and Treatment

Curr Oncol Rep. 2023 Nov;25(11):1247-1258. doi: 10.1007/s11912-023-01453-x. Epub 2023 Sep 29.

Abstract

Purpose of review: Summarize the writings published in the last years on the management and novel therapies of mucosal melanoma (MM).

Recent findings: New research has demonstrated a difference between MM and cutaneous melanoma (CM) in their genomic and molecular landscapes, explaining the response's heterogeneity. Immunotherapy and targeted therapy have limited benefit, but novel therapies are rapidly expanding. MM is aggressive cancer occurring in gastrointestinal, respiratory, or urogenital mucosa; whose incidence is greater in the Asian population. The etiology and pathogenesis remain unclear since UV exposure is not a proven risk factor as in cutaneous melanoma. In contrast to CM, lesions on the mucosal surface are less likely to be recognized early; therefore, the disease is diagnosed in an advanced stage. Clinical manifestations, such as bleeding or pain, can help to detect this tumor, although the prognosis remains unfavorable with an overall 5-year survival rate of less than 20%. The mutational landscape of MM includes mutations of BRAF and NRAS, as well as mutations in the c-KIT/CD117 gene (in 50% of patients), thus limiting therapeutic interventions to immunotherapy. However, clinical studies show less responsiveness to immunotherapy compared to CM, therefore novel therapeutic strategies targeting new molecules are needed to improve the survival of patients with MM.

Keywords: BRAF mutation; Immunotherapy; Mucosal melanoma; Targeted therapy; cKIT mutation.

Publication types

  • Review

MeSH terms

  • Humans
  • Melanoma* / diagnosis
  • Melanoma* / epidemiology
  • Melanoma* / genetics
  • Melanoma, Cutaneous Malignant
  • Mutation
  • Prognosis
  • Proto-Oncogene Proteins B-raf / genetics
  • Skin Neoplasms* / therapy

Substances

  • Proto-Oncogene Proteins B-raf