Pathogenesis, clinical diagnosis and treatment of anorectal malignant melanoma: a review
ZHANG Yan1, NI Jing1, JIA Wengping1, XU Li2
1. The First School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, Zhejiang 310053, China; 2. The First Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, Zhejiang 310053, China
Abstract：Anorectal malignant melanoma (ARMM) is a subtype of malignant melanoma with low incidence and high invasion, and has a poor prognosis due to its hidden location and rapid progression. In terms of pathogenesis, the molecular landscape and potential carcinogenic driver gene characteristics of ARMM are significantly different from those of cutaneous melanoma, manifested by a lower rate of somatic mutations, no ultraviolet exposure-related mutation characteristics, a high incidence of cell structural variation, and high genomic instability. The tumor-driving genomic mutations are mainly KIT, NRAS, and NF1 mutations, and the incidence of SF3B1 mutations is significantly higher than that in other sites of mucosal melanoma. Surgery is still the main treatment for ARMM, while immunotherapy and targeted therapy need further development. This article reviews the characteristics of carcinogenic driver gene mutations and clinical diagnosis and treatment of ARMM, providing a reference for the prevention and treatment of ARMM.
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