RT Journal Article SR Electronic T1 Multigene mutation analysis of mediastinal and hilar lymph nodes sampled by endobronchial unltrasound-guided needle aspiration JF European Respiratory Journal JO Eur Respir J FD European Respiratory Society SP 4638 VO 42 IS Suppl 57 A1 Thomas Vandemoortele A1 Isabelle Nanni-Metellus A1 Elise Kaspi A1 Véronique Secq A1 Sophie Laroumagne A1 Patrice Roll A1 Elisa Roca A1 Hervé Dutau A1 Philippe Astoul A1 Andrée Robaglia YR 2013 UL http://erj.ersjournals.com/content/42/Suppl_57/4638.abstract AB Background: The presence of an Epidermal Growth Factor Receptor (EGFR) activating mutation guide treatment selection in advanced Non-Small Cell Lung Cancer (NSCLC), whereas (BRAF) mutations play a role in metastatic melanoma. We aimed to determine the feasibility of routine multigene mutation analysis for EGFR, KRAS, BRAF and PI3KCA in EndoBronchial UltraSound-guided (EBUS) TransBronchial Needle Aspiration (TBNA) in patients with NSCLC and melanoma.Methods: Data was prospectively collected from patients undergoing EBUS-TBNA from March 2011 until September 2012. Smears were studied after using Papanicolaou and May-Grünwald Giemsa stains. Genetic mutations were analyzed in metastatic lymph nodes diagnosed by EBUS TBNA in 40 patients with NSCLC and 1 melanoma patient. PCR and direct sequencing of EGFR exons 18 to 21, KRAS exon 2, BRAF exon 15 and PI3KCA exons 9 and 20 were performed.Results : Multigene mutation analysis was completed for samples from 40 patients (97,6%). Mutations were detected in 11 patients (26,8%) : 3 (7,3%) EGFR exon 19 deletion, 6 (14,6%) KRAS mutation, 1 (2,4%) BRAF, and 1 (2,4%) PI3KCA mutation. Only one sample could not be processed for the detection of KRAS mutation. All the samples were adequate for the other mutations detection. Molecular biology analyses were performed both on cytological samples and biopsy samples in 7 patients (17,1%), with a perfect correlation between these.Conclusions: Mutations of the EGFR, KRAS, BRAF and PI3KCA genes can be detected in cytological samples routinely obtained with EBUS TBNA.