Ihle, Michaela A. and Heydt, Carina and Schultheis, Anne Maria and Stoehr, Robert and Haller, Florian and Herold, Sylvia and Aust, Daniela and Dietmaier, Wolfgang and Evert, Matthias and Eszlinger, Markus and Haak, Anja and Lassmann, Silke and Vorholt, Daniela and Breitenbuecher, Frank and Werner, Martin and Streubel, Anna and Mairinger, Thomas and Grassow-Narlik, Maja and Merkelbach-Bruse, Sabine (2024) Multinational proficiency tests for EGFR exon 20 insertions reveal that the assay design matters. SCIENTIFIC REPORTS, 14 (1): 13069. ISSN 2045-2322
Full text not available from this repository. (Request a copy)Abstract
Insertion mutations in exon 20 of the epidermal growth factor receptor gene (EGFR exon20ins) are rare, heterogeneous alterations observed in non-small cell lung cancer (NSCLC). With a few exceptions, they are associated with primary resistance to established EGFR tyrosine kinase inhibitors (TKIs). As patients carrying EGFR exon20ins may be eligible for treatment with novel therapeutics-the bispecific antibody amivantamab, the TKI mobocertinib, or potential future innovations-they need to be identified reliably in clinical practice for which quality-based routine genetic testing is crucial. Spearheaded by the German Quality Assurance Initiative Pathology two international proficiency tests were run, assessing the performance of 104 participating institutes detecting EGFR exon20ins in tissue and/or plasma samples. EGFR exon20ins were most reliably identified using next-generation sequencing (NGS). Interestingly, success rates of institutes using commercially available mutation-/allele-specific quantitative (q)PCR were below 30% for tissue samples and 0% for plasma samples. Most of these mutation-/allele-specific (q)PCR assays are not designed to detect the whole spectrum of EGFR exon20ins mutations leading to false negative results. These data suggest that NGS is a suitable method to detect EGFR exon20ins in various types of patient samples and is superior to the detection spectrum of commercially available assays.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MUTATIONS |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Pathologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 Jan 2026 08:00 |
| Last Modified: | 15 Jan 2026 08:00 |
| URI: | https://pred.uni-regensburg.de/id/eprint/65387 |
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