Solène M. Evrard (Author), Estelle T. Clermont (Author), Isabelle Rouquette (Author), Samuel Murray (Author), Sebastian Dintner (Author), Yun-Chung Nam-Apostolopoulos (Author), Beatriz Bellosillo (Author), Mar V. Rodriguez (Author), Ernest Nadal (Author), Klaus H. Wiedorn (Author), Mitja Rot (Author), Izidor Kern (Author)

Abstract

Before initiating treatment of advanced nonesmall-cell lung cancer with tyrosine kinase inhibitors (eg, erlotinib, gefitinib, osimertinib, and afatinib), which inhibit the catalytic activity of epidermal growth factor receptor (EGFR), clinical guidelines require determining the EGFR mutational status for activating (EGFR exons 18, 19, 20, or 21) and resistance (EGFR exon 20) mutations. The EGFR resistance mutation T790M should be monitored at cancer progression. The Idylla EGFR Mutation Assay, performed on the Idylla molecular diagnostics platform, is a fully automated (<2.5 hours turnaround time) sample-to-result molecular test to qualitatively detect 51 EGFR oncogene point mutations, deletions, or insertions. In a 15- center evaluation, Idylla results on 449 archived formalin-fixed, paraffin-embedded tissue sections, originating from nonesmall-cell lung cancer biopsies and resection specimens, were compared with data obtained earlier with routine reference methods, including next-generation sequencing, Sanger sequencing, pyrosequencing, mass spectrometry, and PCR-based assays. When results were discordant, a third method of analysis was performed, when possible, to confirm test results. After confirmation testing and excluding invalids/errors and discordant results by design, a concordance of 97.6% was obtained between Idylla and routine test results. Even with <10 mm2 of tissue area, a valid Idylla result was obtained in 98.9% of the cases. The Idylla EGFR Mutation Assay enables sensitive detection of most relevant EGFR mutations in concordance with current guidelines, with minimal molecular expertise or infrastructure.

Keywords

receptor za epidermalni rastni dejavnik;zaviralci tirozin kinaze;sekvenciranje;tyrosine kinase inhibitors;epidermal growth factor receptor;

Data

Language: English
Year of publishing:
Typology: 1.01 - Original Scientific Article
Publisher: Elsevier
UDC: 616-006
COBISS: 2048546161 Link will open in a new window
ISSN: 1943-7811
Views: 855
Downloads: 520
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Other data

Secondary keywords: Carconima, non-small-cell lung;Diagnosis;Genetics;ErbB receptors;Sequence analysis;Nedrobnocelični karcinom pljuč;Diagnostika;Genetika;ErbB receptorji;Analiza zaporedja;
Source comment: Soavtorja iz Slovenije: Mitja Rot, Izidor Kern; Nasl. z nasl. zaslona; Opis vira z dne 7. 10. 2019;
Pages: str. 1010-1024
Volume: ǂVol. ǂ21
Issue: ǂiss. ǂ6
Chronology: Nov. 2019
DOI: 10.1016/j.jmoldx.2019.06.010
ID: 12063393