Zhu X, Cai L, Xiao J
Department of Gynecology, Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou 510006, China.
Nan Fang Yi Ke Da Xue Xue Bao. 2022 Aug 20;42(8):1263-1266. doi: 10.12122/j.issn.1673-4254.2022.08.21.
Lynch syndrome (LS) is an autosomal dominant hereditary disease caused by deletion of such DNA mismatch repair (MMR) genes as MLH1, MSH2, MSH6, and PMS2. The functional loss of MMR genes results in instability of the highly repetitive DNA sequence, and may eventually leads to tumor occurrence. Here we report a case of LS- related endometrial cancer in a clustered LS family identified by genetic counseling and genetic testing. For patients with a family history of LSrelated tumors, the diagnosis of LS should be considered, and immunohistochemical testing of MMR and genetic testing for LS should be performed. A definite diagnosis of LS has important clinical significance for individuals and family members, and risk screening and preventive measures can minimize the overall risk of developing LS-related cancers.
林奇综合征(LS)是一种常染色体显性遗传病,由MLH1、MSH2、MSH6和PMS2等DNA错配修复(MMR)基因缺失引起。MMR基因的功能丧失导致高度重复DNA序列的不稳定,并最终可能导致肿瘤发生。在此,我们报告一例通过遗传咨询和基因检测确定的聚集性LS家族中与LS相关的子宫内膜癌病例。对于有LS相关肿瘤家族史的患者,应考虑LS的诊断,并进行MMR免疫组化检测和LS基因检测。LS的明确诊断对个体及其家庭成员具有重要的临床意义,风险筛查和预防措施可将发生LS相关癌症的总体风险降至最低。