Circulating tumor DNA for diagnosis, prognosis and treatment of gastrointestinal malignancies

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.