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Ann Transl Med. 2017 Feb;5(3):46. doi: 10.21037/atm.2017.01.32.

The first liquid biopsy test approved. Is it a new era of mutation testing for non-small cell lung cancer?

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MSC Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland.


Specific mutations in epidermal growth factor receptor (EGFR) gene are predictive for response to the EGFR tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer patients (NSCLC). According to international guidelines, the molecular testing in patients with advanced NSCLC of a non-squamous subtype is recommended. However, obtain a tissue sample could be challenging. Liquid biopsy allows to determine patients suitable for EGFR-targeted therapy by analysis of circulating-free tumor DNA (cfDNA) in peripheral blood samples and might replace tissue biopsy. It allows to acquire a material in convenient minimally invasive manner, is easily repeatable, could be used for molecular identification and molecular changes monitoring. Many studies show a high concordance rate between tissue and plasma samples testing. When U.S. Food and Drug Administration (FDA) approved the first liquid biopsy test, analysis of driver gene mutation from cfDNA becomes a reality in clinical practice for patients with NSCLC.


Liquid biopsy; circulating-free tumor DNA; epidermal growth factor receptor; non-small cell lung cancer

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