Aims Idylla epidermal growth factor receptor (EGFR) is a fast and fully automated mutation assay that is easy to implement. However, under the Biocartis-recommended technical conditions, tissue sections are directly introduced into the cartridge, at the risk of exhausting the tumour sample. In this study, we evaluate the performance of Idylla EGFR on extracted DNA and discuss its place within the global non-small-cell lung cancer (NSCLC) screening strategy.
Methods 577 comparative tests between Idylla EGFR on extracted DNA and next-generation sequencing (NGS) were performed across two centres.
Results Preanalytical thresholds were established (20% tumour cell content, 50 ng DNA input) and challenged prospectively in routine practice. 16.8% of samples referred for screening were considered non eligible for Idylla EGFR testing. Due to discordant by design cases, Idylla EGFR sensitivity was 86.9% for currently actionable EGFR mutations. Idylla EGFR specificity was 100% in first-line screening. NGS was always feasible on the same DNA.
Conclusion Idylla EGFR on extracted DNA is feasible and enables tumour material to be saved compared with tissue section use. It is not necessary to replace the analytical thresholds of the Biocartis algorithm. Due to both the limits of the mutational repertoire and the high increase of targetable genes in NSCLC, the use of Idylla EGFR should be restricted to clinical emergency situations accompanied by NGS.
- lung neoplasms
- molecular biology
- diagnostic screening programs
- biomarkers, tumor
- pathology, molecular
Data availability statement
All data relevant to the study are included in the article or uploaded as online supplemental information.
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Handling editor Runjan Chetty.
EK and CC contributed equally.
LM and IS contributed equally.
Contributors EK is the guarantor of this study. EK, IS, CC and LM conceived and designed the study. EK and IS wrote the manuscript and supervised the project. CC, LM and BT contributed to the manuscript. EK, IS, CC, BT, LM and VB performed data analysis and statistical analysis. JS, EM, AR, MA, CPr, AB, LB, AM, MBo, YL and MBa performed the experiments and collated the data. EK edited the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests EK has received honoraria from Biocartis. The remaining authors declare no conflict of interest.
Provenance and peer review Not commissioned; externally peer reviewed.
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