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Tumor-associated DNA mutation detection in individuals undergoing colonoscopy
Phillip Fleshner1, Glenn D Braunstein2, Gayane Ovsepyan1
1Division of Colorectal Surgery, Cedars-Sinai Medical Center, Los Angeles, California, 90048.
Cancer Medicine
|November 11, 2017
Summary
Detecting colorectal cancer (CRC) and precancerous lesions using circulating tumor DNA (ctDNA) shows promise. While the study didn't find CRC, ctDNA was detected in some patients with polyps and even normal colonoscopies.
Area of Science:
- Oncology
- Genetics
- Molecular Diagnostics
Background:
- Colorectal cancer (CRC) frequently involves somatic mutations and epigenetic changes.
- Circulating tumor DNA (ctDNA) from these mutations can be found in plasma.
- Precancerous lesions share similar mutations, making them potential ctDNA sources.
Purpose of the Study:
- To evaluate the sensitivity and specificity of a ctDNA panel for detecting CRC and precancerous lesions.
- To assess the utility of plasma ctDNA analysis in patients undergoing colonoscopy.
Main Methods:
- Blood samples were collected from 200 patients prior to colonoscopy.
- A 96-mutation panel targeting nine cancer driver genes was used to measure plasma ctDNA.
- ctDNA results were correlated with colonoscopy findings.
Main Results:
- No colorectal cancer (CRC) was diagnosed in the study cohort.
- 13.2% of patients with polyps showed detectable ctDNA.
- 4.7% of patients with normal colonoscopies also had detectable ctDNA.
Conclusions:
- The ctDNA panel showed potential for detecting colonic polyps.
- Further research is needed to clarify the significance of ctDNA in normal colonoscopy findings.
- The study could not determine the true-positive rate for CRC detection due to the absence of CRC cases.
