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Lynch综合征相关性子宫内膜癌(LS-EC)与散发性子宫内膜癌不同,该病是常染色体显性遗传病,是由于DNA错配修复基因(MLH1、MSH2、MSH6及PMS2)的突变或异常表达引起的。LS-EC再发肿瘤风险较高,及时诊断及治疗非常重要。近年来发达国家采用免疫组化、微卫星不稳定性和基因检测等相结合的分子诊断方法,大大提高了LS-EC的诊断率。全文针对LS-EC的遗传学改变、临床病理特点、筛查及诊断、预防、治疗进行了综述。
Lynch syndrome-associated endometrial cancer (LS-EC), unlike sporadic endometrial cancer, is an autosomal dominant genetic disorder that is caused by DNA mismatch repair genes (MLH1, MSH2, MSH6 and PMS2) Mutation or abnormal expression caused. LS-EC recurrence of tumor risk is higher, timely diagnosis and treatment is very important. In recent years, developed countries use immunohistochemistry, microsatellite instability and genetic testing combined with molecular diagnostic methods, greatly improving the diagnostic rate of LS-EC. The full text of the LS-EC genetic changes, clinical and pathological features, screening and diagnosis, prevention, treatment were reviewed.