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遗传性非息肉病性结直肠癌临床分子诊断的研究进展 被引量:2

Recent advances in molecular diagnosis of hereditary nonpolyposis colorectal cancer
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摘要 遗传性非息肉病性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC)是一种由于错配修复基因(mismatch repair gene,MMR)突变导致的常染色体显性遗传性疾病,占结直肠癌的5%-15%.研究显示,与HNPCC发生相关的错配修复基因有hMSH2、hMLH1、hMSH6、hPSM1和hPSM2.HNPCC肿瘤具有发病早、近段结肠多见、原发癌多见、肠外肿瘤多见、病理以黏液腺癌为主的特点.到目前为止,HNPCC的诊断主要依赖病史及相关遗传检测结果.对于符合Amsterdam Ⅱ或Bethesda标准的结直肠癌患者应进行微卫星不稳定(microsatellite instability,MSI)和免疫组织化学错配修复蛋白的检测,继而进行错配修复基因等种系突变检测. Hereditary nonpolyposis colorectal cancer (HN- PCC) is a dominant autosomal genetic syndrome, accounting for 5%-10% of all colorectal cancers. It is caused by inactivating germ-line mutations of DNA mismatch repair (MMR) genes, including hMLH1, hMSH2, hMSH6, hPMS2, and hPMS1. HNPCC shows a tendency towards early age at onset, multiplicity of tumors, right-sided colon involvement, characteristic tumor pathology, and spectrum of extracolonic tumors. The diagnosis of HNPCC mainly relies on history and genetic linkage analysis. Patients meeting the Amster- dam criteria or Bethesda guidelines should undergo detection of microsatellite instability and immunohistochemistry analysis of hMSH2 andhMLH1 expression. If one of the two detections yields a positive result, molecular genetic testing for germline mutations of MMR genes should be taken into consideration.
出处 《世界华人消化杂志》 CAS 北大核心 2012年第29期2806-2811,共6页 World Chinese Journal of Digestology
基金 国家自然科学基金资助项目 No.30873272 江苏省自然科学基金资助项目 No.BK200845 江苏省普通高校研究生科研创新计划基金资助项目 No.CXZZ12-0607~~
关键词 遗传性非息肉性结直肠癌 微卫星不稳定 免疫组织化学 错配修复基因 Hereditary nonpolyposis colorectal can- cer Microsatellite instability Immunohistochemis-try Mismatch repair gene
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