Optimization of EGFR mutation detection by the fully-automated qPCR-based Idylla system on tumor tissue from patients with non-small cell lung cancer

// Marius Ilie 1, 2, 3 , Catherine Butori 1, 3 , Sandra Lassalle 1, 2, 3 , Simon Heeke 2 , Nicolas Piton 4 , Jean-Christophe Sabourin 4 , Virginie Tanga 3 , Kevin Washetine 1, 3 , Elodie Long-Mira 1, 2, 3 , Priscilla Maitre 3 , Nathalie Yazbeck 2 , Olivier Bordone 3 , Virginie Lespinet 3 , Sylvie Leroy 5 , Charlotte Cohen 6 , Jerome Mouroux 2, 6 , Charles Hugo Marquette 2, 5 , Veronique Hofman 1, 2, 3 and Paul Hofman 1, 2, 3 1 Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, FHU OncoAge, University Cote d’Azur, Nice, France 2 IRCAN Inserm U1081/CNRS 7284, FHU OncoAge, University Cote d’Azur, Nice, France 3 Hospital-related Biobank (BB-0033-00025), Pasteur Hospital, FHU OncoAge, University Cote d’Azur, Nice, France 4 Department of Pathology, Rouen University Hospital, Rouen, France 5 Department of Pulmonary Medicine and Thoracic Oncology, Pasteur Hospital, FHU OncoAge, University Cote d’Azur, Nice, France 6 Department of Thoracic Surgery, Pasteur Hospital, FHU OncoAge, University Cote d’Azur, Nice, France Correspondence to: Paul Hofman, email: hofman.p@chu-nice.fr Keywords: NSCLC, EGFR, targeted therapy, optimization, PCR Received: March 21, 2017      Accepted: September 19, 2017      Published: October 04, 2017 ABSTRACT Treatment with EGFR inhibitors is limited to patients with advanced/metastatic non-small cell lung cancer who have known EGFR mutations. Currently, patient care has to respond to several imperatives to make these inhibitors broadly available to all patients; fast and accurate detection of EGFR mutations by a sensitive and specific standardized cost-effective method, easy-to-implement in settings with limited expertise in molecular diagnostics. We evaluated the Idylla™ EGFR Mutation Assay (Biocartis) for the detection of EGFR mutations in archived formalin-fixed paraffin-embedded (FFPE) tumor samples from a series of 55 patients with lung adenocarcinoma and compared these results with those obtained by a pyrosequencing ISO-15189 accredited laboratory method. The comparison was made on both whole surgical tumor sections and on three artificially constructed small biopsies (~1 mm) from the same FFPE blocks. Cost-effectiveness and turnaround time comparison between the two methods was performed. On both whole tissue sections and on biopsy cores, the Idylla™ and pyrosequencing had an agreement of 95% (52/55). The Idylla™ EGFR Assay produced results faster and more cost-effective than pyrosequencing. The Idylla™ system showed a good sensitivity and was cost-saving in our setting. Because of the easy workflow, the Idylla™ system has the potential to expand EGFR testing to more pathology laboratories in a reliable and fast manner.