title: Molecular Testing for Targeted Therapy in Advanced Non-Small Cell Lung Cancer: Suitability of Endobronchial Ultrasound Transbronchial Needle Aspiration.
abstract: OBJECTIVE
  Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a minimally invasive procedure that has revolutionized the diagnosis and staging of lung cancer. The goal of the present study was to investigate the yield and applicability of molecular testing in the specimens obtained by EBUS-TBNA from patients with advanced non-small cell lung cancer (NSCLC), comparing the results with a series of patients who underwent diagnostic surgical procedures in the same institution.
  
  
  METHODS
  The study followed 306 consecutive patients with clinically diagnosed primary lung cancer who had the EBUS-TBNA procedure. EGFR and KRAS mutations were evaluated on cytologic specimens by Sanger sequencing and Cobas real-time polymerase chain reaction, whereas ALK rearrangement was tested by fluorescence in situ hybridization. The results were compared with those obtained from a series of 1,000 NSCLC surgical samples routinely analyzed.
  
  
  RESULTS
  Molecular testing was possible in 96.9% of the samples obtained by EBUS-TBNA. EGFR (exons 18-21) mutations were found in 16.9%, KRAS mutation (exons 2-3) in 31.6%, and ALK rearrangement in 3.9% of the cases. In the surgical series, the mutations' distribution were 14.8%, 29.0%, and 3.4%, respectively. There were no statistical differences between the two series.
  
  
  CONCLUSIONS
  Our study demonstrates that EBUS-TBNA can be effectively used not just for diagnosis but also for complete mutational testing.
authors.affiliation: From the Divisions of Pathology and.
authors.forename: Chiara
authors.initials: C
authors.lastname: Casadio
authors.affiliation: Thoracic Surgery, European Institute of Oncology and University of Milan, Milan, Italy.
authors.forename: Juliana
authors.initials: J
authors.lastname: Guarize
authors.affiliation: Thoracic Surgery, European Institute of Oncology and University of Milan, Milan, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Donghi
authors.affiliation: From the Divisions of Pathology and.
authors.forename: Clementina
authors.initials: C
authors.lastname: Di Tonno
authors.affiliation: From the Divisions of Pathology and caterina.fumagalli@ieo.it.
authors.forename: Caterina
authors.initials: C
authors.lastname: Fumagalli
authors.affiliation: From the Divisions of Pathology and.
authors.forename: Davide
authors.initials: D
authors.lastname: Vacirca
authors.affiliation: From the Divisions of Pathology and.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Dell'Orto
authors.affiliation: Thoracic Surgery, European Institute of Oncology and University of Milan, Milan, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: De Marinis
authors.affiliation: Thoracic Surgery, European Institute of Oncology and University of Milan, Milan, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Spaggiari
authors.affiliation: From the Divisions of Pathology and.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Viale
authors.affiliation: From the Divisions of Pathology and.
authors.forename: Massimo
authors.initials: M
authors.lastname: Barberis
mesh_terms: D000328:Adult; D000368:Aged; D001999:Bronchoscopy / Q000379:methods; D002289:Carcinoma, Non-Small-Cell Lung / Q000175:diagnosis* / Q000235:genetics*; D061765:Endoscopic Ultrasound-Guided Fine Needle Aspiration / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008175:Lung Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D058990:Molecular Targeted Therapy
keywords: ALK; Cytology; EBUS-TBNA; EGFR; KRAS