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Stool DNA testing detected colorectal neoplasia in IBD patients
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Stool DNA tests were feasible and effective in noninvasively detecting high rates of colorectal neoplasia among patients with inflammatory bowl disease in a recent study.
Researchers conducted two parts to their study, one on tissue DNA samples and the other on stool DNA. In the tissue DNA cohort, 25 patients with colorectal neoplasia associated with inflammatory bowel disease (IBD-CRN) and 25 chronic ulcerative colitis (UC) controls without neoplasia underwent genetic sequencing and methylation assaying. Specificity was 100%, but researchers said sensitivity with all 14 mutation markers was 60%. Methylation markers were highly discriminant for IBD-CRN.
The stool study included 19 patients with IBD-CRN (17 with UC; two with Crohn’s disease [CD]) and 35 matched IBD controls without CRN, including 25 with UC and 10 with CD. Researcher assessed methylated genes BMP3, NDRG4, EYA4 and vimentin on buffered stools in a blind, prospective study by using quantitative allele-specific, real-time target and signal amplification assaying.
Among the IBD-CRN patients, nine had colorectal cancer (CRC), and 10 had dysplasia. In areas under the ROC curve, methylated markers for BMP3, vimentin, EYA4 and NDRG4 individually showed high discriminations of 0.91, 0.91, 0.85 and 0.84, respectively, for IBD-CRN. For cancer, they exhibited AUCs of 0.97, 0.97, 0.95 and 0.85, respectively.
The combination of mBMP3 and mNDRG4 detected 100% of all nine patients with CRC at 89% specificity and 80% of dysplasia patients, including 100% of high grade and 67% of low grade.
“Using DNA methylation markers, we found that the stool assay achieved high detection rates of both CRC and dysplasia in IBD patients,” the researchers concluded. “These early results … represent an important first step in the evaluation of stool DNA as a noninvasive tool for detection of CRN in IBD patients.
“Additional studies are needed to corroborate and expand these novel findings.”
Disclosure: See the study for a full list of relevant disclosures.
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