Raccomandazioni per l’esecuzione di indagini molecolari su biopsia liquida in oncologia

Liquid biopsy in cancer patients is mainly based on the analysis of circulating tumor DNA (ctDNA) enriched from biological fluids. This approach has more recently been proposed for the detection of oncogenic alterations in blood, cerebrospinal fluid (CSF), or urine through the use of sensitive technologies, mainly digital PCR (ddPCR) and massive parallel sequencing (MPS). Liquid biopsies have the advantage of overcoming some of the drawbacks associated with tumor biopsies, being blood samples easy to obtain from patients. Plasma ctDNA may better represent the total landscape of oncogenic alterations found across all tumor sites. Several commercially available liquid biopsy platforms based on MPS technology are currently analytically validated, with sensitivities, specificities, false negative rates, false positive rates, positive predictive values, and negative predictive values evaluated in comparison with tissue. The specificity of ctDNA is generally high while the sensitivity varies between different platforms. However, these data have not yet led to the incorporation of ctDNA into routine clinical practice. The present Reccomandation represents a synthesis of the main evidences supporting use of liquid biopsy based assays in clinical setting. This inter-society approved document was prepared by a panel of expert belonging to four scientific societies who tried to provide the main useful information for the implementation of liquid biopsy-based test in clinical and laboratory practice.