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

Oncotype SEQ® Study Investigators and Program Team

doi:10.1038/s41698-020-0118-x

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

Oncotype SEQ® Study Investigators and Program Team

School of Medicine

West Cancer Center & Research Institute
National Cancer Center Japan
Cancer Care Associates TMPN (now Hunt Cancer Center)
Instituto Nacional del Tórax
Allina Health
Hospital Clínico Univeritario Lozano Blesa
Clatterbridge Cancer Centre NHS Foundation Trust
Inc. (now Exact Sciences Corp.)
Centre de Recherche en Cancérologie de Marseille
University College Dublin
Gabrail Cancer Institute
Bon Secours Cancer Institute at St. Francis
Essex Oncology of North Jersey
Central Georgia Cancer Care

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

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.

Original language	English
Article number	15
Journal	npj Precision Oncology
Volume	4
Issue number	1
DOIs	https://doi.org/10.1038/s41698-020-0118-x
State	Published - 1 Dec 2020

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

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.",

author = "\{Oncotype SEQ{\textregistered} Study Investigators and Program Team\} and Schwartzberg, \{Lee S.\} and Hidehito Horinouchi and David Chan and Sara Chernilo and Tsai, \{Michaela L.\} and Dolores Isla and Carles Escriu and Bennett, \{John P.\} and Kim Clark-Langone and Christer Svedman and Pascale Tomasini and Gregory Alexander and Baehner, \{Frederick L.\} and Thomas Bauer and Anna Bergamaschi and John Crown and Deborah Davison and Eberhard, \{David A.\} and Nashat Gabrail and James Han and William Irvin and Margarita Lopatin and James Orsini and Sumrall, \{Bradley T.\}",

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doi = "10.1038/s41698-020-0118-x",

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T2 - analytical validation and clinical concordance

AU - Oncotype SEQ® Study Investigators and Program Team

AU - Schwartzberg, Lee S.

AU - Horinouchi, Hidehito

AU - Chan, David

AU - Chernilo, Sara

AU - Tsai, Michaela L.

AU - Isla, Dolores

AU - Escriu, Carles

AU - Bennett, John P.

AU - Clark-Langone, Kim

AU - Svedman, Christer

AU - Tomasini, Pascale

AU - Alexander, Gregory

AU - Baehner, Frederick L.

AU - Bauer, Thomas

AU - Bergamaschi, Anna

AU - Crown, John

AU - Davison, Deborah

AU - Eberhard, David A.

AU - Gabrail, Nashat

AU - Han, James

AU - Irvin, William

AU - Lopatin, Margarita

AU - Orsini, James

AU - Sumrall, Bradley T.

PY - 2020/12/1

Y1 - 2020/12/1

N2 - 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.

AB - 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.

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JO - npj Precision Oncology

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ER -

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

Abstract

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