摘要
Lynch综合征是由DNA错配修复(MMR)基因突变引起的常染色体显性遗传病,子宫内膜癌是女性Lynch综合征患者最常见的恶性肿瘤。与散发性子宫内膜癌不同,MMR突变和微卫星不稳定(MSI)是Lynch综合征相关子宫内膜癌的主要分子遗传学基础。目前,Lynch相关子宫内膜癌尚未引起国内妇产科医生的足够重视,本文就Lynch相关子宫内膜癌的发病机制、诊断标准、与激素的关系、临床病理特征、筛查及治疗作一综述。
Lynch syndrome（LS）is an autosomal dominant genetic disease which caused by a genetic mutation within DNA mismatch repair（MMR）genes,Endometrial cancer（EC）is the most common malignancy in women of LS. Different from sporadic endometrial carcinoma,the MMR mutations and microsatellite instability（MSI）are the molecular genetics foundation of LS related EC. The domestic obstetricians and gynaecologists have yet to pay enough attention to LS related EC,This article is to summarize the etiology and pathogenesis of endometrial carcinoma,diagnosis and relations with hormone,the clinical pathological characteristics,screening and treatment of Lynch syndrome related endometrial carcinoma.
出处
《中国优生与遗传杂志》
2016年第10期134-136,共3页
Chinese Journal of Birth Health & Heredity
