Universität zu Köln

Ihle, Michaela A. ORCID: 0009-0007-8948-7116, Heydt, Carina ORCID: 0000-0003-3184-9579, Schultheis, Anne Maria ORCID: 0000-0002-9078-5432, Stöhr, Robert, Haller, Florian, Herold, Sylvia, Aust, Daniela, Dietmaier, Wolfgang, Evert, Matthias, Eszlinger, Markus, Haak, Anja, Laßmann, Silke, Vorholt, Daniela, Breitenbücher, Frank, Werner, Martin, Streubel, Anna, Mairinger, Thomas, Grassow-Narlik, Maja and Merkelbach-Bruse, Sabine ORCID: 0000-0002-0312-5760 (2024). Multinational proficiency tests for EGFR exon 20 insertions reveal that the assay design matters. Scientific Reports, 14 (1). pp. 1-11. Springer Nature. ISSN 2045-2322

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Abstract

[Artikel-Nr.: 13069] 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
Creators:	Creators Email ORCID ORCID Put Code Ihle, Michaela A. UNSPECIFIED https://orcid.org/0009-0007-8948-7116 UNSPECIFIED Heydt, Carina UNSPECIFIED https://orcid.org/0000-0003-3184-9579 UNSPECIFIED Schultheis, Anne Maria UNSPECIFIED https://orcid.org/0000-0002-9078-5432 UNSPECIFIED Stöhr, Robert UNSPECIFIED UNSPECIFIED UNSPECIFIED Haller, Florian UNSPECIFIED UNSPECIFIED UNSPECIFIED Herold, Sylvia UNSPECIFIED UNSPECIFIED UNSPECIFIED Aust, Daniela UNSPECIFIED UNSPECIFIED UNSPECIFIED Dietmaier, Wolfgang UNSPECIFIED UNSPECIFIED UNSPECIFIED Evert, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Eszlinger, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Haak, Anja UNSPECIFIED UNSPECIFIED UNSPECIFIED Laßmann, Silke UNSPECIFIED UNSPECIFIED UNSPECIFIED Vorholt, Daniela UNSPECIFIED UNSPECIFIED UNSPECIFIED Breitenbücher, Frank UNSPECIFIED UNSPECIFIED UNSPECIFIED Werner, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Streubel, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED Mairinger, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Grassow-Narlik, Maja UNSPECIFIED UNSPECIFIED UNSPECIFIED Merkelbach-Bruse, Sabine UNSPECIFIED https://orcid.org/0000-0002-0312-5760 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-815630
Identification Number:	10.1038/s41598-024-63821-2
Journal or Publication Title:	Scientific Reports
Volume:	14
Number:	1
Page Range:	pp. 1-11
Number of Pages:	11
Date:	6 June 2024
Publisher:	Springer Nature
ISSN:	2045-2322
Language:	English
Faculty:	Faculty of Medicine
Divisions:	Faculty of Medicine > Pathologie und Neuropathologie > Institut für Pathologie
Subjects:	Medical sciences Medicine
['eprint_fieldname_oa_funders' not defined]:	Publikationsfonds UzK
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/81563