Lynch综合征相关性子宫内膜癌研究进展

Advances in Lynch syndrome related endometrial carcinoma

Lynch综合征(Lynch syndrome)又称遗传性非息肉性结直肠癌综合征,是由DNA错配修复(MMR)基因突变引起的一组常染色体显性遗传病。Lynch综合征患者常患有多种原发性肿瘤,女性患者中子宫内膜癌与之最为密切,称为Lynch综合征相关性子宫内膜癌。目前,对Lynch综合征相关性子宫内膜癌无大样本的数据研究,对其筛查及随访缺乏统一策略。为提高对该病的认识与重视,作者对Lynch综合征相关性子宫内膜癌发病机制、临床病理特点、诊断方法、治疗要点及筛查策略等研究进展进行概述。

Lynch syndrome （LS）, also known as hereditary non-polyposis colorectal cancer syndrome, is made up of DNA mismatch repair （MMR） gene nmtation caused by a group of autosomal dominant genetic disease. Lynch syndrome patients often suffer from a variety of primary tumor, in women with endometrial carcinoma most closely with them, we called Lynch syndrome related endometrial cancer. At present, the endometrial cancer has no correlation with Lynch syndrome of large sample data research, lack of a unified strategy for the screening and follow-up. In this paper, the correlation of Lynch syndrome endometrial cancer pathogenesis, clinical pathological characteristics, diagnostic factors, screening and treatment were reviewed.