Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling
| Autor: | Christine M Ulz, Yves Konigshofer, Michael R. Speicher, Markus Sprenger-Haussels, Peter M. Abuja, Alexander Sartori, Inger Riise Bergheim, Ellen Heitzer, Vera Kloten, Dominic G. Rothwell, Menno Tamminga, Dan Brudzewsky, Sabrina Weber, Samantha Perakis, Paul van der Leest, Maria L. Aguirre Azpurua, Sumitra Mohan, Karl Kashofer, Harriet Wikman, Benjamin Spiegl, Ed Schuuring, Rita Lampignano |
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| Přispěvatelé: | Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON) |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Cancer Research Computer science molecular profiling Computational biology lcsh:RC254-282 Article cell-free DNA 03 medical and health sciences 0302 clinical medicine Profiling (information science) Liquid biopsy cfDNA diagnostic leukaphereses mutation analysis reference material circulating tumor DNA Technical evaluation ctDNA lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens Clinical routine assay validation Clinical Practice 030104 developmental biology Oncology Circulating tumor DNA 030220 oncology & carcinogenesis Test performance performance assessment |
| Zdroj: | Cancers Volume 12 Issue 6 Cancers, 12(6):1588, 1-16. MDPI AG Cancers, Vol 12, Iss 1588, p 1588 (2020) |
| ISSN: | 2072-6694 |
| Popis: | 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: | OpenAIRE |
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