Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling.

Autor:	Weber S; Institute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.; Christian Doppler Laboratory for Liquid Biopsies for Early Detection of Cancer, Medical University of Graz, 8010 Graz, Austria., Spiegl B; Institute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Perakis SO; Institute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Ulz CM; Institute of Pathology, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Abuja PM; Christian Doppler Laboratory for Liquid Biopsies for Early Detection of Cancer, Medical University of Graz, 8010 Graz, Austria.; Institute of Pathology, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Kashofer K; Institute of Pathology, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Leest PV; Institute of Pathology, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Azpurua MA; University of Groningen, University Medical Center of Groningen, 9713 GZ Groningen, The Netherlands., Tamminga M; University of Groningen, University Medical Center of Groningen, 9713 GZ Groningen, The Netherlands., Brudzewsky D; SeraCare Life Sciences, Milford, USA., Rothwell DG; Cancer Research UK MI, University of Manchester, Manchester M13 9PL, UK., Mohan S; Cancer Research UK MI, University of Manchester, Manchester M13 9PL, UK., Sartori A; Agena Bioscience GmbH, D-22761 Hamburg, Germany., Lampignano R; Bayer AG, Biomarker Research, 42117 Wuppertal, Germany., Konigshofer Y; SeraCare Life Sciences, Milford, USA., Sprenger-Haussels M; QIAGEN GmbH, 40724 Hilden, Germany., Wikman H; University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Bergheim IR; Department of Cancer Genetics, Institute of Cancer Research, Oslo University Hospital, N-0310 Oslo, Norway., Kloten V; Bayer AG, Biomarker Research, 42117 Wuppertal, Germany., Schuuring E; University of Groningen, University Medical Center of Groningen, 9713 GZ Groningen, The Netherlands., Speicher MR; Institute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Heitzer E; Institute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.; Christian Doppler Laboratory for Liquid Biopsies for Early Detection of Cancer, Medical University of Graz, 8010 Graz, Austria.
Jazyk:	angličtina
Zdroj:	Cancers [Cancers (Basel)] 2020 Jun 16; Vol. 12 (6). Date of Electronic Publication: 2020 Jun 16.
DOI:	10.3390/cancers12061588
Abstrakt:	Molecular profiling from liquid biopsy, in particular cell-free DNA (cfDNA), represents an attractive alternative to tissue biopsies for the detection of actionable targets and tumor monitoring. In addition to PCR-based assays, Next Generation Sequencing (NGS)-based cfDNA assays are now commercially available and are being increasingly adopted in clinical practice. However, the validity of these products as well as the clinical utility of cfDNA in the management of patients with cancer has yet to be proven. Within framework of the Innovative Medicines Initiative (IMI) program CANCER-ID we evaluated the use of commercially available reference materials designed for ctDNA testing and cfDNA derived from Diagnostic Leukaphereses (DLA) for inter- and intra-assay as well as intra- and inter-laboratory comparisons. In three experimental setups, a broad range of assays including ddPCR, MassARRAY and various NGS-based assays were tested. We demonstrate that both reference materials with predetermined VAFs and DLA samples are extremely useful for the performance assessment of mutation analysis platforms. Moreover, our data indicate a substantial variability of NGS assays with respect to sensitivity and specificity highlighting the importance of extensive validation of the test performance before offering these tests in clinical routine practice.
Databáze:	MEDLINE
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