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微卫星不稳定性检测在遗传性非息肉病性结直肠癌家系遴选中的作用 被引量:3

Role of the detection of microsatellite Instability to identify the kindreds with hereditary nonpolyposis colorectal cancer
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摘要 目的 探讨微卫星不稳定性(MSI)检测在遗传性非息肉病性结直肠癌(HNPCC)家系遴选中敏感性、特异性及临床应用的价值。方法 对12例符合Amsterdam标准的HNPCC患者和16例散发性结直肠癌患者的肿瘤标本进行微卫星不稳定性检测。结果 若将高微卫星不稳定性(MSI-H)及低微卫星不稳定性(MSI-L)的结直肠癌患者作为HNPCC家系的诊断标准,其敏感性为100%,特异性为75%,正确率为81%;若仅将MSI-H的结直肠癌患者作为HNPCC家系的诊断标准,其敏感性为100%,特异性为94%,正确率为95%。结论 微卫星不稳定性检测遴选HNPCC家系敏感性和特异性较高,而且两者简单、经济,适合在临床广泛应用。 Objective To study the specificity and sensitivity of the detection of microsatellite instability(MSI) to identify the kindreds with hereditary nonpolyposis colorectal cancer and analyze its clinical value. Method MSI was detected in the specimens from 12 cases with HNPCC and 16 cases with sporadic colorectal cancer. Results The specificity and sensitivity of MSI were 100% and 75% if MSI-H and MSI-L were used as diagnostic standard of HNPCC. The specificity and sensitivity of MSI increased to 100% and 94% if only MSI-H was used as diagnostic standard. Conclusions The specificity and sensitivity of MSI to identify the HNPPC kindreds are high. The detection of MSI is simple and economical and can be used in clinic.
出处 《中华胃肠外科杂志》 CAS 2003年第5期320-322,共3页 Chinese Journal of Gastrointestinal Surgery
基金 国家自然科学基金(39970823 30170927)
关键词 微卫星不稳定性检测 遗传性非息肉病性结直肠癌 家系遴选 临床应用 诊断 Hereditary nonpolyposis colorectal cancer Microsatellite instability Screening
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共引文献29

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  • 1刘善润,王振军,赵博,万远廉,黄莚庭.遗传性非息肉病性结直肠癌患者的临床特点及hMSH2与hMLH1种系突变的筛查[J].中华医学杂志,2004,84(9):714-717. 被引量:13
  • 2肖秀英,周晓燕,孙孟红,颜歌,杜祥.散发性结直肠癌中微卫星不稳定性及临床病理意义[J].中华肿瘤杂志,2006,28(4):289-293. 被引量:17
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  • 10袁瑛,郑树.可疑遗传性非息肉病性结直肠癌的hMLH1和hMSH2基因突变研究[J].中华医学杂志,1999,79(5):346-348. 被引量:25

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