Potential and challenges of liquid biopsies

Abstract

Although tumor genotyping is still the most currently used method for categorizing tumors for clinical decisions, tumor tissues provide only a snapshot or are often difficult to obtain. To overcome these issues, methods are needed for a rapid, cost-effective, and noninvasive identification of biomarkers at various time points during the course of disease. The analysis of circulating tumor cells (CTCs), cell-free circulating tumor DNA (ctDNA), circulating RNAs, and exosomes, frequently referred to as liquid biopsy, has recently gained enormous momentum. Due to technological advances, novel circulating tumor biomarkers were shown to have a great potential to improve patient treatment in terms of estimation of prognosis, monitoring treatment response, early detection of resistance mechanisms, identification of actionable targets, and detection of minimal residual disease. However, despite all efforts, liquid biopsies are not yet routinely used mainly due to technological hurdles, lack of analytical and pre-analytical standards and conclusive evidence that patients indeed benefit from such analyses. In this chapter, the different entities with respect to state-of-the-art technologies, potential clinical applications, and their limitations are discussed.