Methylation of and Genes in Circulating Cell-Free DNA as a Potential Biomarker for the Early Detection of Colorectal Polyps.

BACKGROUND

Recently, there has been a growing amount of data suggesting the significance of long noncoding RNAs () in controlling cellular biological processes and influencing the progression of cancer. Changes in the methylation of promoter regions in these genes can interfere with their expression and functions. The aim of this study was to evaluate the methylation status of and genes in plasma for the non-invasive early detection of polyps.

MATERIALS AND METHODS

In this study, 27 individuals with low-risk polyps (LRP), 27 with high-risk polyps (HRP), and 26 healthy controls were enrolled. The quantitative methylation levels of specific sites in and genes were examined in cell-free DNA (cfDNA) extracted from the plasma of all participants using a methylation-quantification endonuclease-resistant DNA (MethyQESD) method.

RESULTS

Increased methylation percentages of both and ( and ) were observed in individuals with LRP and HRP. The combination of and improved the diagnostic power and significance (AUC = 0.822; 95% CI: 0.696 to 0.912, < 0.001) with sensitivity of 69% (95% CI: 49-85%) and specificity of 96% (95 CI: 80-99%) for LRP. A combination of and showed an AUC of 0.925 (95% CI: 0.826 to 0.978, < 0.001) with a sensitivity of 88% (95% CI: 72-97%) and specificity of 96% (95 CI: 80-99%) for HRP.

CONCLUSIONS

can enhance the specificity of methylation-specific detection of precancerous lesions. The combined detection of and offers a simple and accurate screening tool for polyp detection, showing promise for the early non-invasive detection of CRC and associated precancerous lesions.