Mueller, Judith N., Falk, Markus, Talwar, Jatin, Neemann, Nicole, Mariotti, Erika, Bertrand, Miriam, Zacherle, Tobias, Lakis, Sotirios, Menon, Roopika, Gloeckner, Christian, Tiemann, Markus, Heukamp, Lukas C., Thomas, Roman K., Griesinger, Frank and Heuckmann, Johannes M. (2017). Concordance between Comprehensive Cancer Genome Profiling in Plasma and Tumor Specimens. J. Thorac. Oncol., 12 (10). S. 1503 - 1512. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1556-1380

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Abstract

Introduction: Detection of somatic genomic alterations in the plasma of patients with cancer (liquid biopsy) are increasingly being used in the clinic. However, the concordance of alterations identified in liquid biopsies with those detected in cancer specimens is not routinely being determined. Methods: We sought to systematically compare alterations found by a massively parallel sequencing liquid biopsy assay covering 39 genes (NEOliquid [NEO New Oncology GmbH, Koln, Germany]) with those identified through routine diagnostic testing in a certified central pathology laboratory in a cohort of patients with nonsquamous NSCLC. NEOliquid is based on enrichment of the genomic territory of interest by hybrid capture and is thus capable of detecting point mutations, small insertions and deletions, copy number alterations, and gene rearrangements/fusions in a single assay. Results: In a cohort of 82 patients with matched blood/tissue samples, the concordance between NEOliquid and tissue-based routine testing was 98%, the sensitivity of NEOliquid was higher than 70%, and the specificity was 100%. Discordant cases included those with insufficient amounts of circulaating tumor DNA in plasma and cases in which known driver mutations (e.g., isocitrate dehydrogenase (NADP(+)), 1 systolic gene [IDH1] R132H, kinesin family member 5B gene [KIFSb-ret proto-oncogene [RET], or MNNG HOS Transforming gene [MET] exon 14) were found in the plasma but were not interrogated by routine tissue analyses. Conclusions: In summary, NEOliquid offers accurate and reliable detection of clinically relevant driver alterations in plasma of patients with cancer. (C) 2017 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Mueller, Judith N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Falk, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Talwar, JatinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neemann, NicoleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mariotti, ErikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bertrand, MiriamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zacherle, TobiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lakis, SotiriosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Menon, RoopikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gloeckner, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tiemann, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heukamp, Lukas C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thomas, Roman K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Griesinger, FrankUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heuckmann, Johannes M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-215701
DOI: 10.1016/j.jtho.2017.07.014
Journal or Publication Title: J. Thorac. Oncol.
Volume: 12
Number: 10
Page Range: S. 1503 - 1512
Date: 2017
Publisher: ELSEVIER SCIENCE INC
Place of Publication: NEW YORK
ISSN: 1556-1380
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
CELL LUNG-CANCER; IN-SITU HYBRIDIZATION; GENERATION; EGFR; MUTATIONS; DNA; CRIZOTINIB; RESISTANCEMultiple languages
Oncology; Respiratory SystemMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/21570

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