Liquid biopsy: Comprehensive overview of circulating tumor DNA (Review)

Abstract

Traditional tumor diagnosis methods rely on tissue biopsy, which can be invasive and unsuitable for long-term monitoring of tumor dynamics. The advent of liquid biopsy has notably improved the overall management of patients with cancer. Liquid biopsy techniques primarily involve detection of circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA). The present review focuses on ctDNA because of its significance in tumor diagnosis, monitoring and treatment. The use of ctDNA-based liquid biopsy offers several advantages, including non-invasive or minimally invasive collection methods, the ability to conduct repeated assessment and comprehensive insights into tumor biology. It serves crucial roles in disease management by facilitating screening of high-risk patients, dynamically monitoring therapeutic responses and diagnosis. Furthermore, ctDNA can be used to demonstrate pseudo-progression, monitor postoperative tumor status and guide adaptive treatment plans. The present study provides a comprehensive review of ctDNA, exploring its origins, metabolism, detection methods, clinical role and the current challenges associated with its application.

Keywords: circulating tumor DNA; liquid biopsy; overall tumor management.

Figure 1.

ctDNA samples. In addition to blood samples, ctDNA can be detected in pleural, peritoneal and pericardial effusion, cerebrospinal fluid, saliva and sputum, pancreatic fluid and bile, urine and semen. ct, circulating tumor.

Figure 2.

ctDNA in patients with cancer. ctDNA detection may facilitate diagnosis and treatment strategies. ct, circulating tumor.