For a review, researchers explored the benefits and drawbacks of existing molecular technologies, as well as how this field is advancing in the context of melanoma diagnosis, prognosis, and therapy response monitoring. Tumor-derived genetic material is regularly lost into the blood of cancer patients, both as circulating free nucleic acids and within circulating cells or extracellular vesicles. Monitoring cancer-specific genetic modifications in circulating nucleic acids, particularly mutant allele frequencies, enables a non-invasive liquid biopsy for identifying residual illness and response to therapy.
With the advent of more powerful molecular-targeted treatments and immunotherapies, reliable molecular biology approaches for the identification of biomarkers such as circulating nucleic acid to monitor and eventually personalize therapy are required. Although polymerase chain reaction (PCR)-based technologies, such as droplet digital PCR, allow for a very sensitive examination of circulating tumor DNA, only a limited number of gene alterations can normally be identified simultaneously. Next-generation sequencing, on the other hand, allows for the simultaneous investigation of numerous mutations in many genes.
The development of tailored next-generation sequencing cancer gene panels optimized for the detection of circulating free DNA now enables both the flexibility of multiple mutation analysis with a sensitivity that approaches, if not equals, droplet digital PCR.
Reference:link.springer.com/article/10.1007/s40257-018-0398-x
