Liquid biopsy mutation panel for non-small cell lung cancer: analytical validation and clinical concordance



Schwartzberg, Lee S, Horinouchi, Hidehito, Chan, David, Chernilo, Sara, Tsai, Michaela L, Isla, Dolores, Escriu, Carles ORCID: 0000-0003-3638-3202, Bennett, John P, Clark-Langone, Kim, Svedman, Christer
et al (show 1 more authors) (2020) Liquid biopsy mutation panel for non-small cell lung cancer: analytical validation and clinical concordance. NPJ PRECISION ONCOLOGY, 4 (1). 15-.

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Abstract

Molecular testing for genomic variants is recommended in advanced non-small cell lung cancer (NSCLC). Standard tissue biopsy is sometimes infeasible, procedurally risky, or insufficient in tumor tissue quantity. We present the analytical validation and concordance study of <i>EGFR</i> variants using a new 17-gene liquid biopsy assay (NCT02762877). Of 144 patients enrolled with newly diagnosed or progressive stage IV nonsquamous NSCLC, 140 (97%) had liquid assay results, and 117 (81%) had both <i>EGFR</i> blood and tissue results. Alterations were detected in 58% of liquid samples. Overall tissue-liquid concordance for <i>EGFR</i> alterations was 94.0% (95% CI 88.1%, 97.6%) with positive percent agreement of 76.7% (57.7%, 90.1%) and negative percent agreement of 100% (95.8%, 100%). Concordance for <i>ALK</i> structural variants was 95.7% (90.1%, 98.6%). This assay detected alterations in other therapeutically relevant genes at a rate similar to tissue analysis. These results demonstrate the analytical and clinical validity of this 17-gene assay.

Item Type: Article
Uncontrolled Keywords: Oncotype SEQ® Study Investigators and Program Team
Depositing User: Symplectic Admin
Date Deposited: 13 Oct 2020 09:38
Last Modified: 16 Jun 2023 12:01
DOI: 10.1038/s41698-020-0118-x
Related URLs:
URI: https://livrepository.liverpool.ac.uk/id/eprint/3104074