散发性大肠癌患者中错配修复基因胚系突变筛查策略

Screening for mismatch repair gene germline mutation in sporadic colorectal cancer

目的探讨在散发性大肠癌患者中筛查错配修复(MMR)基因胚系突变的可行性和策略。方法以150例散发性大肠癌患者为研究对象,以微卫星不稳定性(MSI)检测和免疫组化(IHC)检测作为初筛方法,对MSI-H表型或IHC检测MMR蛋白缺失的患者行hMLH1和hMSH2基因测序,检测MMR基因胚系突变。结果150例散发性大肠癌中MSI-H表型20例,IHC示22例MMR蛋白缺失。共发现3例MMR基因突变。MSI检测和IHC检测结果具有很好的一致性。结论散发性大肠癌患者中分子生物学筛查方法能够有效鉴别出MMR基因胚系突变。

Objective To investigate the feasibility and strategy of screening for mismatch repair gene germline mutation in sporadic colorectal cancer.Methods One hundred and fifty sporadic colocrectal cancers were enrolled.Microsatellite instability（MSI） detecting and the immunohistochemical（IHC） staining for mismatch repair proteins were used as the primary screening methods.Among patients with MSI-H or loss of MMR expression,sequencing for hMLH1 and hMSH2 was undertaken.Results Among 150 cases,there were 20 MSI-H cancers and 22 cancers showed loss of MMR expression.Three micro-mutation were detected.The results of IHC accorded with the MSI status.Conclusion Molecular screening could identify MMR gene germline mutation efficiently in patients with sporadic colorectal cancer.