Lynch综合征1例并家系分析  

Analysis of a case of Lynch syndrome and his family

作　　者：耿海涛[1] 曹瑞娟[2] 孙霖 万金良[1] 李绵利[1] GENG Haitao;CAO Ruijuan;SUN Lin;WAN Jinliang;LI Mianli(Department of Oncology,Binzhou Medical University Hospital,Shandong,Binzhou 256603,China;Department of ENT&HN Surgery,Binzhou Medical University Hospital,Shandong,Binzhou 256603,China)

机构地区：[1]滨州医学院附属医院肿瘤科,山东滨州256603 [2]滨州医学院附属医院耳鼻咽喉头颈外科,山东滨州256603

出　　处：《中国医药科学》2022年第12期186-189,共4页China Medicine And Pharmacy

基　　金：山东省滨州医学院科技计划项目(BY2013KJ08)。

摘　　要：回顾1例滨州医学院附属医院收治的Lynch综合征患者诊断过程并对其家系进行分析。Lynch综合征是一种由错配修复基因突变导致的常染色体显性遗传肿瘤综合征,其导致罹患结直肠癌、子宫内膜癌等风险显著升高。本例患者同时罹患子宫内膜癌与结肠癌,且病理免疫组化提示错配修复蛋白缺失,经基因测序证实MSH2胚系突变并最终确诊Lynch综合征。同时,患者家族成员调查发现一级亲属有两人患有Lynch综合征相关肿瘤。本文旨在提高对Lynch综合征的认识并在日常医疗工作中加强对患者整个家系的管理,以便对其家系成员进行适当干预并降低患癌风险。The diagnostic process of a patient with Lynch syndrome admitted to and treated in Binzhou Medical University Hospital was reviewed and his family was analyzed.Lynch syndrome is an autosomal dominant genetic tumor syndrome caused by mutation of mismatch repair gene,which leads to a significantly increased risk of colorectal cancer and endometrial cancer,etc.This patient suffered from endometrial cancer and colon cancer at the same time,and pathological immunohistochemistry showed that mismatch repair protein was missing.The mutation of MSH2 germline was confirmed by gene sequencing and Lynch syndrome was finally diagnosed.At the same time,the investigation of family members found that two first-grade relatives had Lynch syndrome-related tumors.Through this paper,the author aims to improve the understanding of Lynch syndrome and strengthen the management of the whole family in daily medical work,so as to properly intervene with his family members and reduce the risk of cancer.

关 键 词：LYNCH综合征 家族遗传性肿瘤 错配修复基因 微卫星不稳定 

分 类 号：R735.3[医药卫生—肿瘤]