Comparison of next-generation sequencing and cobas® EGFR Mutation Test v2 in detecting EGFR mutations

Abstract Purpose: Targeting oncogenic driver mutations, such as sensitizing mutations in the epidermal growth factor receptor gene (EGFR), significantly improves the prognosis of patients with advanced non-squamous non-small-cell lung cancer (NS-NSCLC). As the number of genetic mutations that must be tested increases, the Oncomine Dx Target Test (ODxTT), which can simultaneously detect multiple cancer-related genes, is becoming the main test used, in preference to single-molecule testing. In this study, we evaluated the performance of ODxTT and cobas® EGFR Mutation Test v2 (cobas® EGFR), one of the single-molecule tests, in detecting EGFR mutations.Materials and methods: Samples from 211 patients who had been diagnosed with NS-NSCLC were tested simultaneously or sequentially with the cobas® EGFR Mutation Test and ODxTT. We compared the success rates and detection rates of both tests and evaluated their equivalence by determining the concordance rate and k-coefficient of the two tests.Results: The success rate in detecting EGFR mutations was 95.7% for ODxTT and 100% for cobas® EGFR. EGFR mutations were detected in 26.5% of samples with ODxTT and in 28.0% with cobas® EGFR. For the 200 samples successfully analyzed with both tests, the concordance rate and k-coefficient were 97.5% and 0.938, respectively. ODxTT failed to detect two exon 19 deletion mutations (p.E746_P753delinsVS and p.E746_P753delinsLS), and cobas® EGR failed to detect three instances of an exon 19 deletion (p.L747_P753delinsS), L861R, and an exon 20 insertion (p.P772_H733insV).Discussion: The success rate of ODxTT is slightly inferior to that of cobas® EGFR. ODxTT shared a high concordance rate and k-coefficient with cobas® EGFR in detecting EGFR mutations, but discordant results between the two tests were observed in a few cases, mainly due to the difference of detectable EGFR variants. Therefore, the advantages and limitations of each test must be clarified to ensure that genomic testing methods are used properly..

Medienart:	Preprint

Erscheinungsjahr:	2022
Erschienen:	2022

Enthalten in:	ResearchSquare.com - (2022) vom: 20. Juni Zur Gesamtaufnahme - year:2022

Sprache:	Englisch

Beteiligte Personen:	Murakami, Shuji [VerfasserIn] Yokose, Tomoyuki [VerfasserIn] Shinada, Kanako [VerfasserIn] Isaka, Testuya [VerfasserIn] Katakura, Seigo [VerfasserIn] Ushio, Ryouta [VerfasserIn] Kondo, Tetsuro [VerfasserIn] Kato, Terufumi [VerfasserIn] Ito, Hiroyuki [VerfasserIn] Saito, Haruhiro [VerfasserIn]

Links:	Volltext [kostenfrei]

doi:	10.21203/rs.3.rs-1584037/v1

funding:
Förderinstitution / Projekttitel:

PPN (Katalog-ID):	XRA035852410