Mucosal Melanoma: Epidemiology, Biology and Treatment

Cancer Treat Res. 2016;167:295-320. doi: 10.1007/978-3-319-22539-5_13.


Mucosal melanoma is an exceedingly rare variant of cutaneous melanoma that, due to its rarity, is poorly described and infrequently studied. Primary sites of origin include the head and neck, anorectum and vulvovaginal regions. It is uniquely different from cutaneous melanoma with respect to epidemiology, etiology, pathogenesis and prognosis. The etiology and pathogenesis remain unclear. Unlike cutaneous melanoma, exposure to UV light is not an apparent risk factor. Furthermore, distinct molecular features including a lower incidence of BRAF oncogene mutations but a higher incidence of KIT oncogene mutations suggest divergent genetic etiologies. Mucosal melanomas generally present at a later stage, are more aggressive and carry a worse prognosis regardless of the stage at diagnosis. Establishing standardized treatment guidelines has been challenging due to the rarity of the disease. Early detection provides the best chance at survival but is often difficult due to anatomic location. Surgery remains the primary therapeutic intervention if complete resection is technically feasible given the anatomic location. Radiotherapy may be used to achieve local control when resection is not feasible, or adjuvantly to enhance locoregional control, but most studies have failed to demonstrate an improvement in overall survival. There are no consensus guidelines on the optimal systemic therapy, and regimens are often extrapolated from data based on therapies used to treat advanced cutaneous melanoma. Clinical trials, particularly utilizing newer targeted therapies and immunotherapies, are investigating novel treatment approaches.

Keywords: BRAF; Imatinib; Immunotherapy; KIT; Melanoma; Mucosal; Targeted.

Publication types

  • Review

MeSH terms

  • Humans
  • Immunotherapy
  • Melanoma / etiology
  • Melanoma / genetics
  • Melanoma / therapy*
  • Molecular Targeted Therapy
  • Mutation
  • Prognosis
  • Skin Neoplasms / etiology
  • Skin Neoplasms / genetics
  • Skin Neoplasms / therapy*