Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe

Autor: Anna Carbó-Bagué, Jordi Rubió-Casadevall, Montserrat Puigdemont, Arantza Sanvisens, Glòria Oliveras, Mònica Coll, Bernat del Olmo, Ferran Perez-Bueno, Rafael Marcos-Gragera
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Cancers, Vol 14, Iss 780, p 780 (2022)
Cancers, 2022, vol. 14, núm. 3, p. 780
Articles publicats (D-CM)
Carbó-Bagué, Anna Rubió Casadevall, Jordi Puigdemont, Montserrat Sanvisens, Arantza Oliveras, Glòria Coll, Mónica Olmo, Bernat del Perez Bueno, Ferran Marcos Gragera, Rafael 2022 Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe Cancers 14 3 780
DUGiDocs – Universitat de Girona
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Cancers; Volume 14; Issue 3; Pages: 780
ISSN: 2072-6694
Popis: 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.
Databáze: OpenAIRE