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Review
. 2016 May 9;11(5):e0155095.
doi: 10.1371/journal.pone.0155095. eCollection 2016.

Diagnostic Performance of DNA Hypermethylation Markers in Peripheral Blood for the Detection of Colorectal Cancer: A Meta-Analysis and Systematic Review

Bingsheng Li  1 , Aihua Gan  1 , Xiaolong Chen  2 , Xinying Wang  3 , Weifeng He  1 , Xiaohui Zhang  1 , Renxiang Huang  4 , Shuzhu Zhou  4 , Xiaoxiao Song  5 , Angao Xu  4
Affiliations
Review

Diagnostic Performance of DNA Hypermethylation Markers in Peripheral Blood for the Detection of Colorectal Cancer: A Meta-Analysis and Systematic Review

Bingsheng Li et al. PLoS One. .

Abstract

DNA hypermethylation in blood is becoming an attractive candidate marker for colorectal cancer (CRC) detection. To assess the diagnostic accuracy of blood hypermethylation markers for CRC in different clinical settings, we conducted a meta-analysis of published reports. Of 485 publications obtained in the initial literature search, 39 studies were included in the meta-analysis. Hypermethylation markers in peripheral blood showed a high degree of accuracy for the detection of CRC. The summary sensitivity was 0.62 [95% confidence interval (CI), 0.56-0.67] and specificity was 0.91 (95% CI, 0.89-0.93). Subgroup analysis showed significantly greater sensitivity for the methylated Septin 9 gene (SEPT9) subgroup (0.75; 95% CI, 0.67-0.81) than for the non-methylated SEPT9 subgroup (0.58; 95% CI, 0.52-0.64). Sensitivity and specificity were not affected significantly by target gene number, CRC staging, study region, or methylation analysis method. These findings show that hypermethylation markers in blood are highly sensitive and specific for CRC detection, with methylated SEPT9 being particularly robust. The diagnostic performance of hypermethylation markers, which have varied across different studies, can be improved by marker optimization. Future research should examine variation in diagnostic accuracy according to non-neoplastic factors.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Flowchart of article selection.
Fig 2
Fig 2. Forest plots of summary performance estimates.
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Grants and funding

This study was supported by Natural Science Foundation of Guangdong Province (2015A030310057).