Current testing for mutations, insertions and deletions in EGFR exons 18, 19, 20, and 21 is still laborious and often requires >5 working days and multiple slices of formalin-fixed paraffin-embedded (FFPE) tissue. Lack of time or tissue for molecular testing are among the main reasons why patients are often deprived of the proper targeted therapies.
Idylla is a fully integrated and automated molecular diagnostics platform that combines speed and ease of use with high sensitivity and high multiplexing capabilities. Moreover, it overcomes the current problem of lack of tissue, and the time-consuming step of processing FFPE tissue samples. After insertion of a single FFPE slice into the cartridge, the complete process of sample liquefaction, nucleic acid preparation, real-time PCR, data analysis, and reporting is fully automated and takes less than 2.5 hours. The Idylla EGFR prototype assay allows the sensitive detection of 53 mutations including insertions and deletions in exons 18, 19, 20 and 21.
Sensitivity was assessed for 20 mutations using cell line derived materials embedded in paraffin containing defined ratios of mutants and dilutions thereof in a WT background. Allelic frequencies ranging from 1 to 50% were tested in triplicate and showed analytical sensitivities of ≤1% up to ≤5% for all targets. The Idylla EGFR prototype assay was also tested with single FFPE slices from 141 clinical NSCLC samples with known mutations as analyzed by NGS and digital droplet PCR. It demonstrated excellent clinical specificity and sensitivity with a negative percentage agreement of 100% and an overall percentage agreement of 96.3%.
The new and fully automated Idylla EGFR prototype assay demonstrates excellent specificity, high sensitivity, ease of use combined with a fast turnaround time for complete EGFR testing on FFPE samples from NSCLC patients.
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All authors have declared no conflicts of interest.