南方医科大学学报

南方医科大学学报 ›› 2022, Vol. 42 ›› Issue (8): 1263-1266.doi: 10.12122/j.issn.1673-4254.2022.08.21

• • 上一篇    

聚集性林奇综合征家族一例报告

朱秀君，蔡林儿，肖 静   

  1. 广州中医药大学第二附属医院大学城医院妇科,广东 广州 510006
  • 出版日期:2022-08-20 发布日期:2022-09-05

A family with clustered Lynch syndrome: a case report

ZHU Xiujun, CAI Lin'er, XIAO Jing   

  1. Department of Gynecology, Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou 510006, China
  • Online:2022-08-20 Published:2022-09-05

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摘要： 林奇综合征（LS）是一种常染色体显性遗传疾病，由于DNA错配修复（MMR）基因MLH1、MSH2、MSH6、PMS2等出现缺失，导致MMR基因功能缺失，最终导致基因组中高度重复DNA序列不稳定，最终导致肿瘤的发生。本文报道了1例LS相关子宫内膜癌患者，通过遗传咨询和基因检测，发现其背后的聚集性LS家族。临床上对评估有LS相关肿瘤家族史的患者，应考虑LS并进行MMR免疫组化检测，甚则行LS基因检测。诊断LS对个体和家庭成员有重要的临床意义，筛查和预防措施可最大限度地降低其罹患LS相关癌症的总体风险。

关键词: 林奇综合征；子宫内膜癌；遗传性疾病

Abstract: 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 LS-related 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.

Key words: lynch syndrome; endometrial cancer; hereditary disease