Validation of Cell-Free DNA Collection Tubes for Determination of EGFR Mutation Status in Liquid Biopsy from NSCLC Patients

• DOI: 10.1007/s40487-019-00099-9
• Publication Date: 2019-08-19T09:02:51Z
• Authors: Marta Sesé; Rosa Somoza; Inmaculada Maestu; Maria Martín Ureste; Alfredo Sanchez; Juan Felipe Cordoba; Irene Sansano; Griselda Venturas; Santiago Ramón y ...; Javier Hernández-...
• Keywords: Liquid biopsy; Cell-free fetal DNA; Gold standard (test)

Precision medicine has revolutionized the understanding and treatment of cancer by identifying subsets patients who are amenable to specific treatments according their molecular characteristics, as exemplified epidermal growth factor receptor (EGFR) mutations in non-small cell lung (NSCLC). Although tissue biopsy is gold standard for determining alterations tumors, its limitations have prompted development new techniques studying tumor biomarkers liquid biopsies, such mutation analysis cell-free DNA (cfDNA). cfDNA can accurately determine progression prognosis more effectively identify appropriate targeted therapies. However, vulnerable, particularly during plasma sample shipping. We compared cell- DNA-stabilizing properties blood collection tubes (BCTs) with those traditional shipping method (frozen plasma) EGFR testing using cobas® Mutation Test v2 a prospective cohort 49 from three different Spanish hospitals. In total, 98 NSCLC samples, two each patient, were studied; five cases considered invalid one methods analyzed. After excluding these we analyzed 88 samples 44 patients. Considering current methodology sending standard, evaluated sensitivity specificity BCT shipment. The global agreement between was 95.4%, 100% 94.6% BCTs. BCTs had positive predictive value 81.8% negative 100%. same very high specificity. They also some additional advantages terms further Therefore, be perfectly incorporated into routine practice determination. Roche Farma S.A., Spain.