دورية أكاديمية
Multinational proficiency tests for EGFR exon 20 insertions reveal that the assay design matters
| العنوان: | Multinational proficiency tests for EGFR exon 20 insertions reveal that the assay design matters |
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| المؤلفون: | Michaela A. Ihle, Carina Heydt, Anne Maria Schultheis, Robert Stöhr, Florian Haller, Sylvia Herold, Daniela Aust, Wolfgang Dietmaier, Matthias Evert, Markus Eszlinger, Anja Haak, Silke Laßmann, Daniela Vorholt, Frank Breitenbücher, Martin Werner, Anna Streubel, Thomas Mairinger, Maja Grassow-Narlik, Sabine Merkelbach-Bruse |
| المصدر: | Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024) |
| بيانات النشر: | Nature Portfolio, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Medicine LCC:Science |
| مصطلحات موضوعية: | Medicine, Science |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2045-2322 |
| Relation: | https://doaj.org/toc/2045-2322 |
| DOI: | 10.1038/s41598-024-63821-2 |
| URL الوصول: | https://doaj.org/article/9fbf9687d08840bb993f42908b606080 |
| رقم الأكسشن: | edsdoj.9fbf9687d08840bb993f42908b606080 |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 20452322 |
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| DOI: | 10.1038/s41598-024-63821-2 |