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 EGFR 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 EGFR blood and tissue results. Alterations were detected in 58% of liquid samples. Overall tissue-liquid concordance for EGFR 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 ALK 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.

Details

Title
Liquid biopsy mutation panel for non-small cell lung cancer: analytical validation and clinical concordance
Author
Schwartzberg, Lee S 1 ; Horinouchi Hidehito 2   VIAFID ORCID Logo  ; Chan, David 3 ; Chernilo Sara 4 ; Tsai, Michaela L 5 ; Isla Dolores 6 ; Escriu Carles 7 ; Bennett, John P 8   VIAFID ORCID Logo  ; Clark-Langone, Kim 8 ; Svedman Christer 8 ; Tomasini Pascale 9 ; Alexander, Gregory 8 ; Baehner, Frederick L 8 ; Bauer, Thomas 10 ; Bergamaschi, Anna 8 ; Crown, John 11 ; Davison, Deborah 8 ; Eberhard, David A 8 ; Nashat, Gabrail 12 ; Han, James 8 ; William, Irvin, Jr 13 ; Lopatin Margarita 8 ; James, Orsini, Jr 14 ; Sumrall, Bradley T 15 

1  West Cancer Center & Research Institute, Germantown, USA (GRID:grid.488536.4) (ISNI:0000 0004 6013 2320) 
2  National Cancer Center Hospital, Tokyo, Japan (GRID:grid.272242.3) (ISNI:0000 0001 2168 5385) 
3  Cancer Care Associates TMPN (now Hunt Cancer Center), Torrance, USA (GRID:grid.272242.3) 
4  Instituto Nacional del Tórax, Santiago, Chile (GRID:grid.419245.f) (ISNI:0000 0004 0411 0047) 
5  Minnesota Oncology, Virginia Piper Cancer Institute, Minneapolis, USA (GRID:grid.492844.7) (ISNI:0000 0004 0434 517X) 
6  University Hospital Lozano Blesa, Zaragoza, Spain (GRID:grid.411050.1) (ISNI:0000 0004 1767 4212) 
7  The Clatterbridge Cancer Centre, Wirral, UK (GRID:grid.418624.d) (ISNI:0000 0004 0614 6369) 
8  Genomic Health, Inc. (now Exact Sciences Corp.), Redwood City, USA (GRID:grid.467415.5) (ISNI:0000 0004 0458 1279) 
9  Assistance Publique Hôpitaux de Marseille, and Centre de Recherche en Cancérologie de Marseille, Inserm UMR1068, CNRS UMR7258, Aix-Marseille Université, Marseille, France (GRID:grid.463833.9) (ISNI:0000 0004 0572 0656) 
10  Hackensack Meridian Health, Jersey Shore University Hospital, Neptune, USA (GRID:grid.429392.7) (ISNI:0000 0004 6010 5947) 
11  St. Vincent’s University Hospital, Dublin 4, Ireland (GRID:grid.412751.4) (ISNI:0000 0001 0315 8143) 
12  Gabrail Cancer Center, Canton, USA (GRID:grid.477270.1) 
13  Bon Secours Cancer Institute at St. Francis, Midlothian, USA (GRID:grid.467415.5) 
14  Essex Oncology of North Jersey, Belleville, USA (GRID:grid.467415.5) 
15  Central Georgia Cancer Care, Macon, USA (GRID:grid.467415.5) 
Publication year
2020
Publication date
2020
Publisher
Nature Publishing Group
ISSN
2397768X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41698-020-0118-x
ProQuest document ID
2416298833
Copyright
© The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.