Rapid clinical mutational testing of KRAS, BRAF and EGFR: a prospective comparative analysis of the Idylla technique with high-throughput next-generation sequencing

摘要: Aims Precision medicine therapy is remodelling the diagnostic landscape of cancer. The success these new therapies often based on presence or absence a specific mutation in tumour. Idylla platform designed to determine mutational status tumour as quickly and accurately possible, rapid, accurate diagnosis utmost importance for treatment patients. This first complete prospective study investigate robustness EGFR , KRAS BRAF mutations non-small cell lung cancer, metastatic colorectal cancer melanoma, respectively. Methods We compared prospectively with results we obtained from parallel high-throughput next-generation sequencing, which current gold standard testing. Furthermore, evaluated benefits disadvantages clinical practice. Additionally, reviewed all published performance articles. Results There was an overall agreement 100%, 94% between panel test. Two interesting discordant findings among 48 cases were observed will be discussed together advantages shortcoming both techniques. Conclusion Our observations demonstrate that cartridge highly accurate, rapid has limited hands-on time sequencing.