Detection of colorectal neoplasm using promoter methylation of ITGA4, SFRP2, and p16 in stool samples: a preliminary report in Korean patients.

Background/aims Colorectal cancer (CRC) screening using stool DNA has yielded a greater detection rate than conventional fecal occult blood testing. The aim of this study was to determine the sensitivity and specificity of this detection method for colorectal adenomas and carcinomas using ITGA4, SFRP2 and p16 promoter methylation. Methods The methylation status of ITGA4, SFRP2 and p16 promoters in bisulfite-modified stool DNA was investigated in a blinded manner with methylation specific PCR (MSP) from 31 endoscopically diagnosed healthy controls, 25 patients with adenomas and 30 patients with CRC. Results Methylated ITGA4, SFRP2 and p16 promoters were detected in 36.7%, 60.0%, and 40.0% of the CRC samples and in 16.0%, 44.0%, and 24.0% of the colorectal adenomas, respectively. The sensitivity of the combined study using the three markers for CRC and colorectal adenoma detection was 70.0% and 72.0%. The specificity of this method was 96.8%. Conclusion Our results demonstrate that ITGA4, SFRP2 and p16 promoter methylation in stool samples had high sensitivity and specificity for the detection of colorectal adenomas and CRC. This newly developed screening may be a useful non-invasive alternative screening for CRC detection.