Volatile biopsies in personalized molecular diagnosis and follow-up of lung adenocarcinoma

Abstract

Volatile biopsies in personalized molecular diagnosis and follow-up of lung adenocarcinoma <b>Introduction:</b> New non-invasive analysis methods are needed for molecular diagnosis of lung cancer. Liquid biopsy (LB), as a new method in this regard. Exhaled breath condensate (EBC), which we can also call volatile biopsy, is a new sample source for lung diseases. <b>Aims and Objectives:</b> To compare EBC with LB and tumor biopsy in molecular analysis of lung adenocarcinoma (LA). <b>Materials and Methods:</b> Fifty patients diagnosed with advanced primary LA were included in the study. Peripheral blood (for LB) and EBC samples were taken for molecular analysis from patients before systemic treatment (V0), during treatment (V1-3) and end of treatment (V4). Formalin-fixed paraffin-embedded (FFPE) lung tissue was also analyzed at only V0. DNA was extracted from clinical samples with the Invitrogen-Pure Link-Genomic-DNA Kit according to the manufacturer9s instructions. Amplicon-based sequencing was performed using Ion-Ampliseq Colon and Lung Cancer gene-panel-v2. <b>Results:</b> The mutation profiles identified in FFPE and EBC were highly correlated at V0. These somatic mutations identified in FFPE and EBC were also detected in LB at subsequent visits. EBC was found to be more successful than LB in detecting mutations. In patients with poor prognosis, FGFR2 and TP53 gene mutation frequencies were found high in EBC samples at V1 and V2 and plasma samples at V1. <b>Conclusion:</b> Volatile biopsy(EBC) is a new, easily reproducible, non-invasive method both molecular diagnosis and follow-up of LA. <b>Acknowledgement:</b> We thank TUBITAK(216S435) and Presidency of Turkey, Presidency of Strategy and Budget(2019K12-149080) for their grant supports.