Towards systematic nomenclature for cell-free DNA
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REVIEW
Towards systematic nomenclature for cell‑free DNA Abel J. Bronkhorst1 · Vida Ungerer1 · Frank Diehl2 · Philippe Anker3,4,5 · Yuval Dor6 · Michael Fleischhacker7 · Peter B. Gahan8 · Lisa Hui9,10,11,12 · Stefan Holdenrieder1 · Alain R. Thierry3,4,5,13 Received: 1 September 2020 / Accepted: 9 October 2020 © The Author(s) 2020
Abstract Cell-free DNA (cfDNA) has become widely recognized as a promising candidate biomarker for minimally invasive characterization of various genomic disorders and other clinical scenarios. However, among the obstacles that currently challenge the general progression of the research field, there remains an unmet need for unambiguous universal cfDNA nomenclature. To address this shortcoming, we classify in this report the different types of cfDNA molecules that occur in the human body based on its origin, genetic traits, and locality. We proceed by assigning existing terms to each of these cfDNA subtypes, while proposing new terms and abbreviations where clarity is lacking and more precise stratification would be beneficial. We then suggest the proper usage of these terms within different contexts and scenarios, focusing mainly on the nomenclature as it relates to the domains of oncology, prenatal testing, and post-transplant surgery surveillance. We hope that these recommendations will serve as useful considerations towards the establishment of universal cfDNA nomenclature in the future. In addition, it is conceivable that many of these recommendations can be transposed to cell-free RNA nomenclature by simply exchanging “DNA” with “RNA” in each acronym/abbreviation. Similarly, when describing DNA and RNA collectively, the suffix can be replaced with “NAs” to indicate nucleic acids.
Introduction The presence of cell-free DNA (cfDNA) in human blood was discovered in the 1940s (Mandel 1948), but only in the last 2 decades have researchers started to uncover the immense potential of cfDNA as a minimally invasive source of diverse biological and pathological information. * Alain R. Thierry [email protected] 1
Although cfDNA research is still a young field of inquiry, it is becoming clear that the utility of cfDNA spans multiple domains of both basic research and clinical diagnostics (Akirav et al. 2011; Amicucci et al. 2000; Atamaniuk et al. 2004; De Vlaminck et al. 2014; Diaz and Bardelli 2014; Fleischhacker and Schmidt 2007; Hui 2019; Lo et al. 1998; Stroun et al. 1989; Thierry et al. 2016; Wan et al. 2016; 8
Fondazione “Enrico Puccinelli” Onlus, 06126 Perugia, Italy
9
Reproductive Epidemiology Group, Murdoch Children’s Research Institute, Parkville, VIC, Australia
Institute for Laboratory Medicine, German Heart Centre, Technical University Munich, Lazarettstraße 36, 80636 Munich, Germany
10
Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, VIC, Australia
2
Thrive Earlier Detection Corp., Cambridge, MA, USA
11
3
IRCM, Institute of Research in Oncology of Montpellier, Montpellier, France
Department of Perinatal Medicine, Merc
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