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World J Clin Oncol. Jun 24, 2022; 13(6): 473-484
Published online Jun 24, 2022. doi: 10.5306/wjco.v13.i6.473
Circulating tumor DNA for diagnosis, prognosis and treatment of gastrointestinal malignancies
Patrick Kirchweger, Helwig Valentin Wundsam, Holger Rumpold
Patrick Kirchweger, Helwig Valentin Wundsam, Department of Surgery, Ordensklinikum Linz, Linz 4010, Austria
Patrick Kirchweger, Holger Rumpold, Gastrointestinal Cancer Center, Ordensklinikum Linz, Linz 4010, Austria
Patrick Kirchweger, Holger Rumpold, Medical Faculty, JKU University Linz, Linz 4040, Austria
Author contributions: Kirchweger P drafted the manuscript; Wundsam HV did extensive revisions; Rumpold H had the idea and co-drafted the manuscript and did revisions.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Holger Rumpold, MD, Associate Professor, Gastrointestinal Cancer Center, Ordensklinikum Linz, Barmherzige Schwestern, Seilerstätte 4, Linz 4010, Austria. holger.rumpold@ordensklinikum.at
Received: March 1, 2021
Peer-review started: March 1, 2021
First decision: April 27, 2021
Revised: May 6, 2021
Accepted: May 26, 2022
Article in press: May 26, 2022
Published online: June 24, 2022
Processing time: 478 Days and 1.8 Hours
Abstract

Minimally invasive detection of circulating tumor DNA (ctDNA) in peripheral blood or other body fluids of patients with gastrointestinal malignancies via liquid biopsy has emerged as a promising biomarker. This is urgently needed, as conventional imaging and plasma protein-derived biomarkers lack sensitivity and specificity in prognosis, early detection of relapse or treatment monitoring. This review summarizes the potential role of liquid biopsy in diagnosis, prognosis and treatment monitoring of gastrointestinal malignancies, including upper gastrointestinal, liver, bile duct, pancreatic and colorectal cancer. CtDNA can now be part of the clinical routine as a promising, highly sensitive and specific biomarker with a broad range of applicability. Liquid-biopsy based postoperative relapse prediction could lead to improved survival by intensification of adjuvant treatment in patients identified to be at risk of early recurrence. Moreover, ctDNA allows monitoring of antineoplastic treatment success, with identification of potentially developed resistance or therapeutic targets during the course of treatment. It may also assist in early change of chemotherapy in metastatic gastrointestinal malignancies prior to imaging findings of relapse. Nevertheless, clinical utility is dependent on the tumor’s entity and burden.

Keywords: Cell-free tumor DNA; Circulating tumor DNA; Gastrointestinal cancer; Liquid biopsy; Esophageal cancer; Gastric cancer; Liver cancer; Bile duct cancer; Pancreatic cancer; Colorectal cancer

Core Tip: This review provides an update on the state-of-the-art circulating tumor DNA detection via liquid biopsy for diagnosis, prognosis and treatment in gastrointestinal malignancies and presents the strengths and limitations of this innovative method.