%0 Journal Article %A Thomas Vandemoortele %A Isabelle Nanni-Metellus %A Elise Kaspi %A Véronique Secq %A Sophie Laroumagne %A Patrice Roll %A Elisa Roca %A Hervé Dutau %A Andrée Robaglia %A Philippe Astoul %T EGFR, KRAS, HER2, BRAF and PI3KCA mutation status in metastatic cancer patients: Thoracic cytological specimens obtained in routine clinical practice %D 2013 %J European Respiratory Journal %P P5092 %V 42 %N Suppl 57 %X Background: Epidermal Growth Factor Receptor (EGFR) activating mutations and KRAS mutations guide treatment selection in advanced Non-Small Cell Lung Cancer (NSCLC), whereas BRAF and HER2 mutations play a role in metastatic melanoma and in breast cancer, respectively. We aimed to determine the feasibility of routine multigene mutation analysis for EGFR, KRAS, BRAF, HER2 and PI3KCA in thoracic samples from patients with carcinoma.Methods: From March 2011 until October 2012, genetic mutations were analyzed from thoracic samples obtained by thoracentesis or during diagnostic bronchoscopy using broncho-alveolar lavage (BAL) or bronchial cytobrush in 42 patients with NSCLC and other metastatic carcinoma. 32 patients had pleural fluid samples, 4 had BAL and 6 had bronchial cytobrush samples. PCR and direct sequencing of EGFR exons 18 to 21, KRAS exon 2, BRAF exon 15, HER2 exon 20 and PI3KCA exons 9 and 20 were performed.Results : Mutation analysis was completed for all samples (100%). Mutations were detected in 20 patients (47,6%) : 9 (21,4%) EGFR, 8 (19,0%) KRAS, 2 (4,8%) BRAF and 1 (2,4%) HER2 mutations. Molecular biology analyses were performed both on cytological samples and biopsy samples in 17 patients (40,5%), of which 16 had concordant results. One patient had a discrepancy between the different tissue samples, with a mutation detected in the pleural fluid sample,but none in the pleural biopsy sample obtained during a different procedure.Conclusions: Mutations of the EGFR, KRAS, BRAF, HER2 and PI3KCA genes can be detected in cytological samples routinely obtained by thoracentesis, BAL and bronchial cytobrushing. %U https://erj.ersjournals.com/content/erj/42/Suppl_57/P5092.full.pdf