Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Weber, S; Spiegl, B; Perakis, SO; Ulz, CM; Abuja, PM; Kashofer, K; Leest, PV; Azpurua, MA; Tamminga, M; Brudzewsky, D; Rothwell, DG; Mohan, S; Sartori, A; Lampignano, R; Konigshofer, Y; Sprenger-Haussels, M; Wikman, H; Bergheim, IR; Kloten, V; Schuuring, E; Speicher, MR; Heitzer, E.
Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling.
Cancers (Basel). 2020; 12(6): 1588
Doi: 10.3390/cancers12061588
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- Führende Autor*innen der Med Uni Graz
- Hammer Sabrina
- Heitzer Ellen
- Co-Autor*innen der Med Uni Graz
- Abuja Peter Michael
- Hasenleithner Samantha
- Kashofer Karl
- Mohan Sumitra
- Speicher Michael
- Spiegl Benjamin Gernot
- Ulz Christine Maria
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- Abstract:
- 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.
- Find related publications in this database (Keywords)
- ctDNA
- circulating tumor DNA
- cfDNA
- cell-free DNA
- molecular profiling
- mutation analysis
- reference material
- diagnostic leukaphereses
- assay validation
- performance assessment