Related Experiment Video
Updated: Mar 7, 2026
Cell-Free DNA Integrity Analysis in Urine Samples
Published on: January 5, 2017
Dynamic tracing for epidermal growth factor receptor mutations in urinary circulating DNA in gastric cancer patients
Xiu-Qin Shi1, Wen-Hua Xue1, Song-Feng Zhao1
1Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Abstract:
The mutations of epidermal growth factor receptor are detected in gastric cancer, indicating its suitability as a target for receptor tyrosine kinase inhibitors, as well as a marker for clinical outcome of chemotherapeutic treatments. However, extraction of quality tumor tissue for molecular processes remains challenging. Here, we aimed to examine the clinical relevance of urinary cell-free DNA as an alternative tumor material source used specifically for monitoring epidermal growth factor receptor mutations. Therefore, 120 gastric cancer patients with epidermal growth factor receptor mutations and 100 healthy controls were recruited for the study. The gastric patients also received epidermal growth factor receptor inhibitor treatment for a serial monitoring study. Paired primary tumor specimens were obtained with blood and urine samples, which were taken at a 1-month interval for a duration of 12 months. We found that urinary cell-free DNA yielded a close agreement of 92% on epidermal growth factor receptor mutation status when compared to primary tissue at baseline, and of 99% epidermal growth factor receptor mutation status when compared to plasma samples at different time points. Thus, our data suggest that urinary cell-free DNA may be a reliable source for screening and monitoring epidermal growth factor receptor mutations in the primary gastric cancer.
Insights
Urinary cell-free DNA reliably detects epidermal growth factor receptor mutations in gastric cancer. This non-invasive method offers a promising alternative for monitoring mutations and guiding treatment decisions.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- Epidermal growth factor receptor (EGFR) mutations are key in gastric cancer, influencing treatment with tyrosine kinase inhibitors.
- Obtaining high-quality tumor tissue for molecular analysis is a significant challenge in gastric cancer management.
- Urinary cell-free DNA presents a potential non-invasive source for molecular profiling.
Purpose of the Study:
- To evaluate the clinical utility of urinary cell-free DNA (cfDNA) for detecting and monitoring EGFR mutations in gastric cancer patients.
- To compare the accuracy of urinary cfDNA for EGFR mutation status against primary tumor tissue and plasma DNA.
- To assess the feasibility of using urinary cfDNA for serial monitoring during EGFR inhibitor treatment.
Main Methods:
- Recruited 120 gastric cancer patients with EGFR mutations and 100 healthy controls.
- Collected paired primary tumor, blood, and urine samples at 1-month intervals for 12 months.
- Analyzed EGFR mutation status in urinary cfDNA, plasma, and tumor tissue.
Main Results:
- Urinary cfDNA showed 92% agreement with primary tumor tissue for EGFR mutation status at baseline.
- Urinary cfDNA demonstrated 99% agreement with plasma samples for EGFR mutation status over time.
- High concordance suggests urinary cfDNA is effective for tracking EGFR mutations.
Conclusions:
- Urinary cell-free DNA is a reliable and non-invasive biomarker for screening and monitoring EGFR mutations in gastric cancer.
- This approach can overcome challenges associated with tumor tissue acquisition.
- Urinary cfDNA holds potential for personalized treatment strategies and patient management in gastric cancer.
