摘要
Muir-Torre综合征是一种罕见的常染色体显性遗传病,是Lynch综合征(又称遗传性非息肉性大肠癌)的一个亚型,临床特征为皮脂腺肿瘤或角化棘皮瘤至少合并一种内脏恶性肿瘤,种系DNA错配修复基因突变是本病的遗传学特征。本文对近年来Muir-Torre综合征的流行病学、基因研究、临床特征和预防治疗等方面进展加以综述,以提高对Muir-Torre综合征的认识。
Muir-Torre syndrome, one subtype of Lynch syndrome(hereditary non-polyposis colorectal carcinoma), is a rare and autosomal dominant condition characterized by the presence of a skin tumor of sebaceous differentiation or keratoacanthomas complicated with at least one visceral malignancy. Its genetic characteristic is the germline mutation in the DNA mismatch repair. The update of epidemiology, genetic researches, clinical features, prevention and treatments of Muir-Torre syndrome is reviewed in this paper.
作者
张聪聪
陈浩
ZHANG Congcong;CHEN Hao(Department of Pathology,Institute of Dermatology,Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042,China)
出处
《中国麻风皮肤病杂志》
2020年第4期253-256,共4页
China Journal of Leprosy and Skin Diseases
基金
中国医学科学院医学与健康科技创新工程重大协同创新项目(编号:CIFMS-2017-I2M-1-107)
江苏省六大人才高峰项目(编号:WSN-030)。