Epidemiology, Clinical Presentation and Treatment of Mucosal Melanoma

Mucosal melanomas are rare and associated with poor prognosis. Importantly, primary mucosal melanoma is clinically and biologically different from cutaneous melanoma. Complete surgical resection is the standard of care treatment for localized melanoma. However, given the usual anatomic locations where mucosal melanomas arise, including head and neck and anorectal mucosa, resection with optimal margins is challenging and post-surgical local recurrences are not uncommon. Adjuvant radiation therapy diminishes local recurrence rate but does not seem to improve overall survival in multiple retrospective series. Although significant progress has been achieved in term of systemic treatment for patients with metastatic cutaneous and uveal melanomas, there are still no groundbreaking results for patients with mucosal melanoma. In that sense, metastatic mucosal melanoma is indeed an orphan disease. Chemotherapy in general has shown poor results. The efficacy of ipilimumab is not established yet. Targeted agents, such as imatinib or sunitinib could be a promising treatment option for patients with KIT mutations. In this review we will try to update the reader with some key points of this rare disease, especially those related to its particular clinical features, some recently discovered and potential molecular targets as well as the small number of clinical trials that support a rational approach to this disease.