Rapid mutation testing in lung cancer tissue samples using a fully automated system and single-use cartridge.

Introduction: Activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor () gene in non-small cell lung cancer (NSCLC) patients predicts response to EGFR tyrosine kinase inhibitors (TKIs). The Idylla™ system (Biocartis, Mechelen, Belgium) is a fully integrated, cartridge-based platform that provides automated sample processing and real-time PCR-based mutation detection in a single-use cartridge. This study evaluated the Idylla™ EGFR Mutation Assay cartridges against next-generation sequencing (NGS) using formalin fixed, paraffin embedded (FFPE) lung cancer tissue samples.

Methods: Thirty-four FFPE lung adenocarcinoma tissue samples were tested on the Idylla™ system. 21 had at least one mutation in and 13 had no mutation as determined by NGS analysis using the Ion AmpliSeq 50-gene Cancer Hotspot Panel v2 (Thermo Fisher Scientific). One 10 ​μm FFPE tissue section was used for each Idylla™ test and all cases met the Idylla™ minimum tumor content requirement (≥10%).

Results: Idylla™ results were in complete agreement with those obtained by NGS for mutations targeted by the Idylla™. NGS identified two additional mutations that are not targeted by the Idylla™ in two samples (E709V and V774M). No mutations were detected by the Idylla™ in samples determined by NGS as having wild-type .

Conclusion: The fully automated Idylla™ system offers rapid and reliable testing for clinically actionable mutations in directly from FFPE tissue sections. Its simplicity and ease of use compared to other available molecular techniques make it suitable for routine clinical use in a variety of settings.