Liquid biopsy has the potential to identify diseases such as cancer with more precision than traditional tissue biopsy, but more research is needed to realize the technology's full potential, according to a special issue of Genetic Testing and Molecular Biomarkers.
Liquid biopsy detects markers for disease in bodily fluids less invasively than tissue biopsy. This makes it easier for physicians to monitor cancer progression in patients and to adjust treatment regimens as cancer cells develop resistance to existing therapies.
The new issue of Genetic Testing and Molecular Biomarkers includes a number of studies on the clinical applications of liquid biopsy, including the following:
- A study on the utility of Droplet Digital polymerase chain reaction (ddPCR, Bio-Rad) for detecting the BRAF V600E genetic mutation in patients with melanoma. The mutation is present in about 50% of melanomas, making it a good target for therapy. Investigators from Slovakia discuss their detection of the BRAF V600E mutation in circulating cell-free DNA shed by melanoma tumors into the blood.
- Research by a group from China on using liquid biopsy to detect the long noncoding RNA SOX2-OT, which is released into the blood in fatty packets called exosomes. The biomarker was found in much higher levels in patients with lung squamous cell carcinoma, and these patients also had a significant correlation between SOX2-OT levels and tumor size, stage of disease, and spread of cancer to nearby lymph nodes.
- A study on the use of liquid biopsy to diagnose trisomy 21, or Down syndrome. A group from China and the U.S. evaluated different sets of fetal-specific methylation markers and used quantitative PCR (qPCR) to identify a combined marker set that could prove to be a highly sensitive, specific, and cost-effective tool for detecting trisomy 21.
The special edition was edited by Ying-Hsiu Su, PhD, of the Baruch S. Blumberg Institute in Doylestown, PA. Full-text articles will be available on the journal's website until May 20.