肛直肠恶性黑色素瘤发病机制及临床诊疗的研究进展  

Pathogenesis,clinical diagnosis and treatment of anorectal malignant melanoma:a review

作　　者：张燕 倪晶 贾翁萍(综述) 徐利(审校)[2] ZHANG Yan;NI Jing;JIA Wengping;XU Li(The First School of Clinical Medicine,Zhejiang Chinese Medical University,Hangzhou,Zhejiang 310053,China;The First Affiliated Hospital of Zhejiang Chinese Medical University,Hangzhou,Zhejiang 310053,China)

机构地区：[1]浙江中医药大学第一临床医学院,浙江杭州310053 [2]浙江中医药大学附属第一医院,浙江杭州310053

出　　处：《预防医学》2023年第12期1053-1057,共5页CHINA PREVENTIVE MEDICINE JOURNAL

基　　金：国家自然科学基金项目(81704082)。

摘　　要：肛直肠恶性黑色素瘤(ARMM)是一种发病率低、高侵袭型恶性黑色素瘤亚型,由于其位置隐蔽,进展迅速,预后较差。在发病机制方面,ARMM的分子景观和潜在致癌驱动基因特点与皮肤黑色素瘤存在明显差异,表现为体细胞突变率较低,不显示紫外线暴露相关突变特征,细胞结构变异发生率高,基因组不稳定性高。肿瘤驱动基因组突变以KIT、NRAS和NF1突变为主,SF3B1突变发生率明显高于其他部位的黏膜黑色素瘤。手术仍是目前治疗ARMM的主要手段,免疫治疗、靶向治疗等尚待进一步研究开发。本文对ARMM的致癌驱动基因突变特征及临床诊治情况进行综述,为ARMM防治提供参考。Anorectal malignant melanoma(ARMM)is a subtype of malignant melanoma with low incidence and high in-vasion,and has a poor prognosis due to its hidden location and rapid progression.In terms of pathogenesis,the molecu-lar landscape and potential carcinogenic driver gene characteristics of ARMM are significantly different from those of cu-taneous melanoma,manifested by a lower rate of somatic mutations,no ultraviolet exposure-related mutation characteris-tics,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 diag-nosis and treatment of ARMM,providing a reference for the prevention and treatment of ARMM.

关 键 词：肛直肠黑色素瘤 发病机制 基因组学 免疫治疗 靶向治疗 

分 类 号：R735[医药卫生—肿瘤]