Ultra-rapid Idylla™ mutation screening followed by next-generation sequencing: An integrated solution to molecular diagnosis of non-small cell lung cancer.

BACKGROUND

Rapid profiling of the mutations is crucial to help clinicians choose the optimal treatment for patients with advanced/metastatic Non-Small Cell Lung Cancer (NSCLC). Unfortunately, current diagnostic techniques, including ARMS-PCR and NGS, generally require several days to deliver final results. This diagnostic delay may lead to treatment delays for patients who are worsening rapidly.

METHODS

This study introduced the ultra-rapid Idylla™ system for rapid, sensitive and specific identification of the mutations among Chinese NSCLC patients. Idylla™ Assay, an integrated cartridge running on the Idylla™ system, which can detect 51 mutations directly from Formalin-Fixed, Paraffin-Embedded (FFPE) samples within 2.5 hours, was used in this study. The sensitivity and specificity of the Idylla™ system were evaluated in comparison with ARMS-PCR or NGS using 95 clinical samples.

RESULTS

The Idylla™ system achieved a sensitivity of 97.6%, a specificity of 100%, and an overall concordance of 97.9% for 95 retrospective samples. When compared to ARMS-PCR, the Idylla™ system demonstrated high accuracy with an overall agreement of 97.1% (34/35), a sensitivity of 95.2% (20/21) (95% CI, 76.2% - 99.9%), and an estimated specificity of 100% (12/12) (95% CI, 76.8% - 100%) for 35 prospective samples.

CONCLUSIONS

This Idylla system provides a rapid, accurate and simple approach for screening mutations, which can guide Tyrosine Kinase Inhibitors (TKI) treatment for NSCLC patients in a timely manner.