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

Tian Qiu; Fanshuang Zhang; Bo Zheng; Zitong Feng; Weihua Li; Hua Zeng; Lixia Chu; Jianming Ying

doi:10.3389/fonc.2023.1064487

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

Front Oncol. 2023 Mar 31:13:1064487. doi: 10.3389/fonc.2023.1064487. eCollection 2023.

Authors

Tian Qiu¹, Fanshuang Zhang¹, Bo Zheng¹, Zitong Feng¹, Weihua Li¹, Hua Zeng¹, Lixia Chu¹, Jianming Ying¹

Affiliation

¹ Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Abstract

Background: Rapid profiling of the EGFR 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 EGFR mutations among Chinese NSCLC patients. Idylla™ EGFR Assay, an integrated cartridge running on the Idylla™ system, which can detect 51 EGFR 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 EGFR mutations, which can guide Tyrosine Kinase Inhibitors (TKI) treatment for NSCLC patients in a timely manner.

Keywords: Chinese NSCLC patients; IdyllaTMEGFR assay; epidermal growth factor receptor; molecular diagnosis; rapid detection.

Grants and funding

This work was supported by grants from Beijing Hope Run Special Fund of Cancer Foundation of China, China (LC2020A36, LC2019L04, LC2019B05), the Fundamental Research Funds for the Central Universities (3332021031) and the National Natural Science Foundation of China, China (21703290, 22272203).