Multinational proficiency tests for EGFR exon 20 insertions reveal that the assay design matters.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
06 06 2024
06 06 2024
Historique:
received:
11
01
2024
accepted:
03
06
2024
medline:
7
6
2024
pubmed:
7
6
2024
entrez:
6
6
2024
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 38844820
doi: 10.1038/s41598-024-63821-2
pii: 10.1038/s41598-024-63821-2
doi:
Substances chimiques
ErbB Receptors
EC 2.7.10.1
EGFR protein, human
EC 2.7.10.1
Antibodies, Bispecific
0
Protein Kinase Inhibitors
0
amivantamab
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
13069Informations de copyright
© 2024. The Author(s).
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