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

被引:23
作者
Schwartzberg, Lee S. [1 ]
Horinouchi, Hidehito [2 ]
Chan, David [3 ]
Chernilo, Sara [4 ]
Tsai, Michaela L. [5 ]
Isla, Dolores [6 ]
Escriu, Carles [7 ]
Bennett, John P. [8 ]
Clark-Langone, Kim [8 ]
Svedman, Christer [8 ]
Tomasini, Pascale [9 ,10 ]
机构
[1] West Canc Ctr & Res Inst, 7945 Wolf River Blvd, Germantown, TN 38138 USA
[2] Natl Canc Ctr, Chuo Ku, 5-1-1 Tsukiji, Tokyo 1040045, Japan
[3] Canc Care Associates TMPN, 3285 Skypk Dr, Torrance, CA 90505 USA
[4] Inst Nacl Torax, Jose Manuel Infante 717, Santiago 7500691, Chile
[5] Virginia Piper Canc Inst, Minnesota Oncol, 800 E 28th St,Suite 602, Minneapolis, MN 55407 USA
[6] Univ Hosp Lozano Blesa, Avda S Juan Bosco 15, Zaragoza 50009, Spain
[7] Clatterbridge Canc Ctr, Clatterbridge Rd, Wirral CH63 4JK, Merseyside, England
[8] Genom Hlth Inc, 301 Penobscot Dr, Redwood City, CA 94063 USA
[9] Aix Marseille Univ, AP HP, Inserm UMR1068, CNRS,UMR7258,UM105, Marseille, France
[10] Aix Marseille Univ, Ctr Rech Cancerol Marseille, Inserm UMR1068, CNRS,UMR7258,UM105, Marseille, France
关键词
CIRCULATING TUMOR DNA; EGFR MUTATION; PHASE-III; NSCLC; PLASMA; RESISTANCE; ERLOTINIB; CRIZOTINIB; PREDICTOR; EVOLUTION;
D O I
10.1038/s41698-020-0118-x
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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 ofEGFRvariants 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 bothEGFRblood and tissue results. Alterations were detected in 58% of liquid samples. Overall tissue-liquid concordance forEGFRalterations 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 forALKstructural 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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页数:7
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