Abstract
Simple SummaryThere are few population-based studies focused on the epidemiology of mucosal melanoma, a rare neoplasm. Its poor prognosis, the different etiology from cutaneous melanoma and the lack of effective treatment beyond corrective surgery, make the knowledge of the mutational profile of this type of cancer a useful tool in understanding its natural history and also for the investigation of new target therapies. The aim of our population-based study is to analyze the incidence and survival of mucosal melanoma, which mainly arises from the head and neck sphere, genitourinary tract and rectal area, and to carry out the mutational analysis of selected cases. We used the Girona Cancer Registry database, which registered all cancer cases in Girona, a province of Spain in southern Europe, during the period of 1994–2018.Background: Mucosal melanoma is a rare neoplasm on which few epidemiological population-based studies have been published. A good surgical approach is the standard treatment, but the prognosis is worse than that of skin melanoma. The analysis of mucosal melanoma’s mutational profile can help to develop target therapies in advanced disease or adjuvant settings. Methods: We analyzed the database of the Cancer Registry of Girona, a region located in the north-east of Spain, in the period of 1994–2018. We selected cases of primary invasive melanoma, excluding those located in the skin, eye, central nervous system and an unknown primary site. Epidemiological analysis included incidence and survival. Mutational profile analysis was performed with a custom gene panel. Results: Forty-two patients were identified: 14 (33%) had vulvar-vaginal melanoma, 15 (35.7%) had rectal melanoma, 12 (28.6%) had melanoma located in the head and neck sphere and 1 male patient had a urethral melanoma. European age-standardized incidence rates for vulvar-vaginal, rectal and head and neck melanoma were 0.09, 0.1 and 0.09 cases/100,000 inhabitant-years, respectively. Five-year observed survival rates were 37.5%, 20% and 25% for these types of cancers. NRAS Q61 was the most frequent mutation found. Conclusion: Our study confirms the steady incidence and low survival of mucosal melanomas in a region of southern Europe. NRAS and NF1 play a role in the molecular landscape of mucosal melanoma. MEK and PI3K/mTOR inhibitors could be reasonable treatment options and are being studied in clinical trials.
Highlights
Melanomas of the mucosa (MMs) are neoplasms that arise from melanocytes of the epithelium of the otorhinolaryngological sphere, conjunctiva, genitourinary tract and anorectal area.MMs are a very rare type of cancer, with a much lower incidence and worse prognosis compared to cutaneous melanomas (CMs) and account for approximately 1.2% of all melanomas
The BRAF mutation in MM has been reported in 3–15% of cases, while it has been reported in nearly 50% of CM cases
Forty-two patients with MM were identified in the cohort: female patients with vulvarvaginal melanoma, rectal melanoma cases, 12 patients with head and neck melanoma and 1 male patient with a penile urethral melanoma
Summary
MMs are a very rare type of cancer, with a much lower incidence and worse prognosis compared to cutaneous melanomas (CMs) and account for approximately 1.2% of all melanomas. MM patients have a median survival of 9 months and the worst prognosis compared with other melanoma subgroups such as uveal, acral, non-acral cutaneous and unknown primary melanoma [2]. Clinical guidelines strongly recommend testing BRAF, NRAS and KIT in all melanomas. The BRAF mutation in MM has been reported in 3–15% of cases, while it has been reported in nearly 50% of CM cases. Mutations of KIT can be identified in 7–17% of cases, a much higher value than in cutaneous melanoma, especially in vulvovaginal melanomas, where they may be identified in 30% of cases [1]. The analysis of mucosal melanoma’s mutational profile can help to develop target therapies in advanced disease or adjuvant settings
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