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GI cancers, precancers detectable by tumor-derived DNA mutations in stools
Researchers have demonstrated that assay of tumor-derived DNA mutations in stool can detect cancers and precancerous lesions throughout the gastrointestinal tract.
The blinded feasibility study included 69 patients with gastrointestinal neoplasms and 69 age/sex-matched participants with normal colonoscopy. DNA from tumor tissue was first sequenced to identify mutations that were subsequently targeted for assay in matched stools.
David A. Ahlquist, MD, a professor of medicine at the Mayo Clinic in Rochester, Rochestern Minn., presented the results.
Overall, target mutations were detected in stools from 71% of patients with cancer. Cancers detected included oropharyngeal, esophageal, gastric, pancreatic, biliary or gallbladder, and colorectal. Detection rates ranged from 40% with oropharyngeal cancers to 100% with colorectal and gastric cancers.
“While cancers above the colon account for roughly twice as many deaths as colorectal cancers, none of these common cancers is currently screened,” said Ahlquist. “Findings from our study suggest that a noninvasive stool DNA test could lead to a pan-GI cancer screening test.”
Importantly, stool detection of target mutations in our study was not affected by cancer stage. Researchers founds that stool tests were positive in 61% of patients with precancers.
“There are about 150,000 deaths per year from digestive cancers in this country alone,” Ahlquist said. “If a screening tool that accurately detected early stage lesions at all GI sites was someday widely applied, the potential for saving lives could be in the tens of thousands each year.” – by Jason Harris
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