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Monitoring of gastrointestinal carcinoma via molecular residual disease with circulating tumor DNA using a tumor‐informed assay by Zining Qi; Yi Li; ZhengKun Wang; Xuerong Tan; Yixuan Zhou; Zhendong Li; Weirong Zhao; Xin Zheng; Jicheng Yao; Feng Li; Weifeng Wang; Zhizheng Wang; Fei Pang; Gang Wang; Weiguang Gu is a Medicine article available to read on EtoBox.
What is Monitoring of gastrointestinal carcinoma via molecular residual disease with circulating tumor DNA using a tumor‐informed assay about?
## Abstract ## Background Circulating tumor DNA (ctDNA)‐based minimal residual disease (MRD) detection, which can identify disease relapse ahead of radiological imaging, has shown promising performance. The objective of this study was to develop and validate OriMIRACLE S (Minimal Residual Circulating Nucleic Acid Longitudinal Detection in Solid Tumor), a highly sensitive and specific tumor‐informed assay for MRD detection. ## Methods Tumor‐specific somatic single nucleotide variants (SNVs) were identified via whole exome sequencing of tumor tissue and matched germline DNA. Clonal SNVs were selected using the OriSelector algorithm for patient‐specific, multiplex PCR‐based NGS assays in MRD detection. Plasma‐free DNA from patients with gastrointestinal tumors prior to and following an operation, and during monitoring, were ultradeep sequenced. ## Results The detection of three positive sites was sufficient to achieve nearly 100% overall sample level sensitivity and specificity and was determined by calculating binomial probability based on customized panels containing 21 to 30 variants. A total of 127 patients with gastrointestinal tumors were enrolled in our study. Preoperatively, M
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- Author
- Zining Qi; Yi Li; ZhengKun Wang; Xuerong Tan; Yixuan Zhou; Zhendong Li; Weirong Zhao; Xin Zheng; Jicheng Yao; Feng Li; Weifeng Wang; Zhizheng Wang; Fei Pang; Gang Wang; Weiguang Gu
- Publisher
- Wiley
- Published
- 2023
- Field
- Medicine (Health Sciences)