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结直肠癌中微卫星状态检测方法的比较

Comparison of microsatellite status detection methods in colorectal carcinoma.

作者信息

Chen Mei-Li, Chen Jie-Yu, Hu Jing, Chen Qian, Yu Li-Xia, Liu Bao-Rui, Qian Xiao-Ping, Yang Mi

机构信息

The Comprehensive Cancer Center of Drum Tower Hospital, Medical School of Nanjing University and Clinical Cancer Institute of Nanjing University Nanjing 210008, China.

Medical School of Southeast University Nanjing, Jiangsu, China.

出版信息

Int J Clin Exp Pathol. 2018 Mar 1;11(3):1431-1438. eCollection 2018.

Abstract

There are two commonly accepted methods for detecting microsatellite status. One is to detect amplified microsatellite loci by polymerase chain reaction (PCR) and the other is to detect mismatch repair gene (MMR) protein expression by immunohistochemistry (IHC). PCR detection is considered to be accurate in clinical operations while IHC is widely used due to ease of operation and lesser expense. In order to compare IHC with PCR in detecting microsatellite status in colorectal carcinoma, a total of 569 samples of colorectal carcinoma resection were collected in the Department of Pathology, Nanjing Drum Tower Hospital, between June 2014 and June 2017. In all samples, IHC and PCR was used to detect microsatellite status and the consistency of results between the two methods was compared. We found that 48 cases of microsatellite instability (MSI) were detected by PCR including 37 cases of microsatellite instability high (MSI-H), 11 cases of microsatellite instability low (MSI-L), and 521 cases of MSS. MSI accounted for 8.44% of all cases and MSI-H accounted for 6.50%. IHC results of the 569 patients showed that 69 cases were deficient mismatch repair (dMMR) and 500 cases were proficient mismatch repair (pMMR). dMMR accounted for 12.13% of all cases. Loss expression of PMS2 protein was the most common while MSH6 was rare. The coincidence rate of the two methods for detecting microsatellite states was 91.92%. IHC and the PCR method had high consistency in microsatellite status. Compared with PCR, the IHC method is more economical and more convenient for clinical operations. When the 4 repair proteins were without deficiency detected by IHC, it could be diagnosed as MSS/MSI-L and further PCR was not necessary. When any repair protein was found to be deficient, PCR detection was needed to determine whether MSI existed. Our conclusion will save a lot of time and costs in clinical work.

摘要

检测微卫星状态有两种普遍认可的方法。一种是通过聚合酶链反应(PCR)检测扩增的微卫星位点,另一种是通过免疫组织化学(IHC)检测错配修复基因(MMR)蛋白表达。PCR检测在临床操作中被认为是准确的,而IHC由于操作简便且成本较低而被广泛应用。为了比较IHC与PCR在检测结直肠癌微卫星状态方面的差异,2014年6月至2017年6月期间,南京鼓楼医院病理科共收集了569例结直肠癌切除样本。对所有样本同时采用IHC和PCR检测微卫星状态,并比较两种方法结果的一致性。我们发现,通过PCR检测出48例微卫星不稳定(MSI),其中包括37例高度微卫星不稳定(MSI-H)、11例低度微卫星不稳定(MSI-L)以及521例微卫星稳定(MSS)。MSI占所有病例的8.44%,MSI-H占6.50%。569例患者的IHC结果显示,69例为错配修复缺陷(dMMR),500例为错配修复功能正常(pMMR)。dMMR占所有病例的12.13%。PMS2蛋白缺失表达最为常见,而MSH6缺失表达较少见。两种检测微卫星状态方法的符合率为91.92%。IHC与PCR方法在微卫星状态方面具有高度一致性。与PCR相比,IHC方法更经济,临床操作更方便。当通过IHC检测发现4种修复蛋白均无缺陷时,可诊断为MSS/MSI-L,无需进一步进行PCR检测。当发现任何一种修复蛋白有缺陷时,则需要进行PCR检测以确定是否存在MSI。我们的结论将在临床工作中节省大量时间和成本。

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