The Current State and Future of Plasma Cell-Free DNA Analysis in Urologic Malignancies

Genomic medicine based on comprehensive genomic profiling (CGP) has revolutionized cancer treatment. However, there are certain limitations to CGP based on tissue analysis. Liquid biopsy, particularly plasma cell-free DNA (cfDNA), has emerged as a less invasive source of information to complement tissue-based analysis. To use cfDNA analysis effectively in the clinical setting, it is important to know the characteristics and specific limitations of cfDNA analysis. Moreover, the utility of cfDNA testing differs between cancer types, which is not widely recognized. Furthermore, in addition to its use in CGP, there are broader applications for cfDNA testing, including its use in detecting minimal residual disease or even epigenomic profiling. In this review, we first describe the detailed characteristics of cfDNA and the limitations of cfDNA analysis, and then focus on the utility of cfDNA analysis in urologic malignancies.