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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 is an autosomal dominant disease caused by DNA mismatch repair (MMR) mutations, the most common malignancy of women with Lynch syndrome. Unlike sporadic endometrial cancers, MMR mutations and microsatellite instability (MSI) are the major molecular genetic bases for Lynch syndrome-associated endometrial cancer. Currently, Lynch-related endometrial cancer has not attracted enough attention of domestic gynecologists. This review summarizes the pathogenesis of Lynch-related endometrial cancer, diagnostic criteria, the relationship with hormone, clinicopathological features, screening and treatment .