A1 Refereed original research article in a scientific journal
Analysis of measurable residual disease by IG/TR gene rearrangements : quality assurance and updated EuroMRD guidelines
Authors: Dombrink Isabel, Alten Julia, Cazzaniga Giovanni, Clappier Emmanuelle, Drandi Daniela, Eckert Cornelia, Fronkova Eva, Hancock Jeremy, Kotrova Michaela, Kraemer Rebekka, Montonen Mirkka, Pfeifer Heike, Pott Christiane, Raff Thorsten, Trautmann Heiko, Cavé Hélène, Schäfer Beat W., van Dongen Jacques J. M., Trka Jan, Brüggemann Monika, van der Velden Vincent H. J., Raff Thorsten, van Dongen Jacques J. M.,; EuroMRD Consortium
Publisher: Springer Nature
Publication year: 2024
Journal: Leukemia
Journal name in source: Leukemia
Journal acronym: Leukemia
Volume: 38
First page : 1315
Last page: 1322
ISSN: 0887-6924
eISSN: 1476-5551
DOI: https://doi.org/10.1038/s41375-024-02272-0
Publication's open availability at the time of reporting: Open Access
Publication channel's open availability : Partially Open Access publication channel
Web address : https://www.nature.com/articles/s41375-024-02272-0
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/404651887
Self-archived copy's licence: CC BY
Self-archived copy's version: Publisher`s PDF
Minimal/measurable residual disease (MRD) diagnostics using real-time quantitative PCR analysis of rearranged immunoglobulin and T-cell receptor gene rearrangements are nowadays implemented in most treatment protocols for patients with acute lymphoblastic leukemia (ALL). Within the EuroMRD Consortium, we aim to provide comparable, high-quality MRD diagnostics, allowing appropriate risk-group classification for patients and inter-protocol comparisons. To this end, we set up a quality assessment scheme, that was gradually optimized and updated over the last 20 years, and that now includes participants from around 70 laboratories worldwide. We here describe the design and analysis of our quality assessment scheme. In addition, we here report revised data interpretation guidelines, based on our newly generated data and extensive discussions between experts. The main novelty is the partial re-definition of the "positive below quantitative range" category by two new categories, "MRD low positive, below quantitative range" and "MRD of uncertain significance". The quality assessment program and revised guidelines will ensure reproducible and accurate MRD data for ALL patients. Within the Consortium, similar programs and guidelines have been introduced for other lymphoid diseases (e.g., B-cell lymphoma), for new technological platforms (e.g., digital droplet PCR or Next-Generation Sequencing), and for other patient-specific MRD PCR-based targets (e.g., fusion genes).
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