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.
Highlights
Colorectal cancer (CRC) is the third most common cause of cancer-related death in the US [1]
Colorectal Cancer Detected by Hypermethylation Markers in Blood effective interventions that substantially reduce CRC-specific mortality and morbidity
The key words employed for literature retrieval were “epigenetic” or “methylation” or “hypermethylation” or “methylated” and “colorectal” or “colon” or “rectum” and “cancer” or “carcinoma” or “tumor” or “neoplasm” or “adenocarcinoma” and “serum” or “sera” or “blood” or “plasma.” To identify additional relevant articles, we scanned conference summaries and reference lists of articles identified in the initial search
Summary
Colorectal cancer (CRC) is the third most common cause of cancer-related death in the US [1]. Current guidelines divide CRC screening approaches into two categories: invasive and noninvasive methods [2]. Invasive methods, such as colonoscopy, remain the primary screening tools due to very good diagnostic performance, enabling the detection and removal of precancerous lesions. Non-invasive screening approaches, such as fecal occult blood tests and fecal immunochemical testing (FIT), are not very effective. These methods do not detect the majority of advanced adenomas [3], and they require patient compliance in self-collecting stool samples annually for occult blood detection [4]. Improvements in the sensitivity and user-friendliness of feces-based tests have not increased compliance in CRC screening
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