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. 2013 Sep;6(5):371-80.
doi: 10.1177/1756283X13487941.

Stool DNA testing for cancer surveillance in inflammatory bowel disease: an early view

John B Kisiel  1 , David A Ahlquist
Affiliations

Stool DNA testing for cancer surveillance in inflammatory bowel disease: an early view

John B Kisiel et al. Therap Adv Gastroenterol. 2013 Sep.

Abstract

Patients with inflammatory bowel disease (IBD) are at increased risk for colorectal cancer (CRC). Despite weak supporting evidence, important logistic barriers and high cost, colonoscopy is currently the only recommended approach to CRC surveillance in patients with IBD. As such, there is imperative to explore alternative or complementary strategies with potential to improve the efficiency and effectiveness of surveillance in IBD. Given our increasing understanding of tumorigenesis in IBD and the accompanying cascade of molecular alterations, there is a strong rationale to pursue biomarker assays for this application. Stool-based DNA testing with advanced technology has been shown to be highly discriminatory for detection of sporadic colorectal cancer and advanced precancers. In early observations, stool DNA testing also shows promise for the accurate detection of IBD-associated colorectal neoplasms. These findings raise important clinical and translational questions about how to best evaluate and develop this technology, and devise clinical algorithms that will complement colonoscopy to improve patient outcomes.

Keywords: DNA methylation; colorectal neoplasms; early detection of cancer; inflammatory bowel disease; stool DNA.

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Conflict of interest statement

Conflict of interest statement: Mayo Clinic is a minor equity investor in, and has licensed intellectual property to, Exact Sciences. J.B.K. and D.A.A. have intellectual property agreements related to sDNA testing and, consistent with Mayo Clinic policy, could share in potential future royalties.

Figures

Figure 1.
Figure 1.
Comparison of genetic and epigenetic changes in sporadic and colitis-associated CRC. CRC, colorectal cancer; LOH, loss of heterozygosity; Mut, mutation. (Reproduced with permission from Xie and Itzkowitz [2008].)
Figure 2.
Figure 2.
Cumulative probability of subsequent CRC, high-grade dysplasia or flat dysplasia among polypectomy patients from time of polypectomy. CRC, colorectal cancer. (Reproduced with permission from Kisiel et al. [2012a].)
Figure 3.
Figure 3.
Gene mutations detected in tissue DNA from IBD-associated cancers (n = 25). IBD, inflammatory bowel disease. (Reproduced with permission from Kisiel et al. [2013].)
Figure 4.
Figure 4.
Receiver operating characteristics curve for detection of IBD-associated CRC, dysplasia and neoplasia (CRC and dysplasia combined) by stool assay of methylated DNA markers (a) BMP3, (b) Vimentin, (c) EYA4 and (d) NDRG4. AUC, area under curve; CRC, colorectal cancer. (Reproduced with permission from Kisiel et al. [2013].)
See this image and copyright information in PMC

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