Diagnostic value of aberrant gene methylation in stool samples for colorectal cancer or adenomas: a meta-analysis

Many studies have reported detection of aberrant methylation of genes in stool sample for early colorectal cancer (CRC) or adenomas had high sensitivity and specificity, but still remained controversial. We aimed to evaluate the diagnostic value of stool testing for markers of CRC and adenomas.

Medline, EMbase, Web of Science, the Cochrane Library, and EMbase were systematically searched. Meta-analysis was performed using a random effects model with sensitivity, specificity, diagnostic OR (DOR), area under the summary ROC curves (SROC) and their 95% confidence interval (95% CI).

A total of 13 studies including 716 patients with CRC 220 cases of adenoma and 414 healthy controls were eligible for final analysis. The sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, and DOR for the detection of CRC were 0.78 (95% CI: 0.75-0.82), 0.90 (95% CI: 0.91-0.96), 9.612 (95% CI: 6.761-13.666), 0.243 (95% CI: 0.176-0.336), and 48.21 (95% CI: 28.24-82.30), respectively. The sensitivity and specificity for the detection of adenoma were 0.63 (95% CI: 0.56-0.69) and 0.93 (95% CI: 0.90-0.96), respectively. The area under the SROC curve was 0.9438 and 0.9385 in CRC and adenoma detection, respectively.

Fecal gene methylation testing as a noninvasive method can be used as a screening measurement for CRC or colorectal adenoma with high sensitivity and specificity.