TABLE 3.

Current applications of Next-Generation Sequencing and Liquid Biopsy.

Hallmark	Key aspects
Early Detection and Diagnosis	NGS analyses of ctDNA or CTCs can identify cancer-specific mutations, potentially allowing for the early detection of cancer before clinical symptoms arise or imaging findings become apparent. This application is particularly promising for cancers that lack effective screening methods
Tumor Heterogeneity and Evolution	Liquid biopsies can capture the genetic diversity of tumors, including primary and metastatic sites. NGS analysis provides insights into tumor heterogeneity and evolution, which are crucial for understanding resistance mechanisms and metastatic potential
Treatment Selection	NGS-based liquid biopsies can identify actionable genetic alterations, guiding the selection of targeted therapies. For example, detecting specific mutations in EGFR or ALK genes in ctDNA from lung cancer patients can direct the use of appropriate tyrosine kinase inhibitors
Monitoring Treatment Response and Disease Progression	Liquid biopsies allow for the dynamic monitoring of tumor burden and response to treatment, offering a more accurate assessment of therapeutic efficacy over time. An increase in ctDNA levels, for instance, may indicate disease progression or relapse, while a decrease suggests a positive response to treatment

NGS: Next-Generation Sequencing. ctDNA: circulating tumor DNA. CTCs: circulating tumor cells. EGFR: epidermal growth factor receptor. ALK: anaplastic lymphoma kinase.