Molecular testing on bronchial washings for lung cancer diagnostic and predictive assessment

Cyto-pathological analyses of bronchial washing collected during fiberoptic bronchoscopy procedures is often inconclusive for lung cancer diagnosis. Here, the suitability of molecular analyses of bronchial washing for improving lung cancer diagnostic and predictive outcomes, was evaluated.: Methylation status of RASSF1A, CDH1, DLC1, and PRPH genes was analyzed in bronchial washing samples (91 lung cancer patients and 31 controls) using a novel two-color droplet digital methylation-specific PCR. ALK, BRAF, EGFR, ERBB2, KRAS, MAP2K1, MET, NRAS, PIK3CA, ROS1 and TP53 mutations and ALK, RET, ROS1 gene fusions were also investigated using next generation sequencing in 73 lung cancer patients and 14 non-tumor patients.Results suggested that bronchial washing represents a useful material for performing molecular tests based on gene panels: aberrant methylation and gene mutation analyses could be performed as accompanying approaches in current diagnostic and predictive strategies during the initial workup phase. This study establishes the ground for further prospective investigations.