Muir-Torre综合征的研究进展

Update of Muir-Torre syndrome

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.