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[AMSS-PCR在肺癌基因突变检测中的应用价值]

[Applicable Value of AMSS-PCR in Lung Cancer Gene Mutation Detection].

作者信息

Jin Ke, Xie Xuan, Pan Yuejiang, Wang Kexi, Chen Baishen, Wu Duoguang, Shen Zhuojian, Wang Minghui, Zhang Huizhong

机构信息

Department of Thoracic Surgery, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou 510120, China.

出版信息

Zhongguo Fei Ai Za Zhi. 2018 Nov 20;21(11):815-820. doi: 10.3779/j.issn.1009-3419.2018.11.02.

Abstract

BACKGROUND

The detection of driver oncogenes of lung cancer is of great importance. There are various gene detection techniques nowadays which are different from each other. We carried out this study to investigate the specificity and sensitivity of assay panels based on an Amplification Refractory Mutation System-polymerase chain reaction (ARMS-PCR) technique of Amplification Mutation Specific System (AMSS) in detection of lung cancer gene mutation. To estimate the applicable value of assay panels in clinical settings.

METHODS

We collected cancer tissue specimens or fluid specimens from 309 patients. Mutation results were presented for those samples previously detected by ARMS-PCR. In comparison, we carried out AMSS-PCR using (epidermal growth factor receptor, EGFR) assay panel and Six-Alliance assay panel as well as Sanger sequencing. Software SPSS 22.0 (SPSS IBM) was used for statistical analysis.

RESULTS

The rates of consistency between the results by assay panels and Sanger sequencing or ARMS-PCR were 97.41% and 97.73%, respectively. Besides, EGFR assay panel had higher consistency rates with other detection methods than Six-Alliance assay panel. As for consistency test, the Kappa values of assay panels with Sanger sequencing, assay panels with ARMS-PCR, and ARMS-PCR with Sanger sequencing were 0.946, 0.953, and 0.913, respectively. The receiver operating characteristic curve (ROC) area under curve (AUC) of assay panels was 0.976 referring to Sanger sequencing, and 0.975 as ARMS-PCR was referred to.

CONCLUSIONS

AMSS-PCR can make an optimal cancer gene mutation detection method for clinical settings.

摘要

背景

肺癌驱动癌基因的检测至关重要。如今有多种基因检测技术,它们各不相同。我们开展本研究以调查基于扩增突变特异性系统(AMSS)的扩增难治性突变系统-聚合酶链反应(ARMS-PCR)技术的检测板在检测肺癌基因突变中的特异性和敏感性。以评估检测板在临床环境中的应用价值。

方法

我们收集了309例患者的癌组织标本或体液标本。呈现了那些先前通过ARMS-PCR检测的样本的突变结果。相比之下,我们使用(表皮生长因子受体,EGFR)检测板和六联检测板以及桑格测序法进行了AMSS-PCR。使用软件SPSS 22.0(SPSS IBM)进行统计分析。

结果

检测板结果与桑格测序或ARMS-PCR结果之间的一致性率分别为97.41%和97.73%。此外,EGFR检测板与其他检测方法的一致性率高于六联检测板。至于一致性检验,检测板与桑格测序、检测板与ARMS-PCR以及ARMS-PCR与桑格测序的Kappa值分别为0.946、0.953和0.913。以桑格测序为参照时,检测板的受试者工作特征曲线(ROC)曲线下面积(AUC)为0.976,以ARMS-PCR为参照时为0.975。

结论

AMSS-PCR可成为临床环境中一种优化的癌症基因突变检测方法。

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