Informace o publikaci

Next-Generation Sequencing-Based Clonality Assessment of Ig Gene Rearrangements: A Multicenter Validation Study by EuroClonality NGS

Autoři	VAN DEN BRAND Michiel RIJNTJES Jos MOBS Markus STEINHILBER Julia VAN DER KLIFT Michele, Y. HEEZEN Kim C. KROEZE Leonie I. REIGL Tomáš PORC Jakub Paweł DARZENTAS Nikos LUIJKS Jeroen A. C. W. SCHEIJEN Blanca DAVI Frederic ELDALY Hesham LIU Hongxiang ANAGNOSTOPOULOS Ioannis HUMMEL Michael FEND Falko LANGERAK Anton W GROENEN Patricia J. T. A.
Rok publikování	2021
Druh	Článek v odborném periodiku
Časopis / Zdroj	JOURNAL OF MOLECULAR DIAGNOSTICS
Fakulta / Pracoviště MU	Středoevropský technologický institut
Citace
www	https://www.sciencedirect.com/science/article/pii/S1525157821001768?getft_integrator=clarivate&pes=vor&utm_source=clarivate
Doi	https://doi.org/10.1016/j.jmoldx.2021.06.005
Klíčová slova	IMMUNOGLOBULIN; LYMPHOPROLIFERATIONS; REPERTOIRE
Popis	Ig gene (IG) donality analysis has an important role in the distinction of benign and malignant B-cell lymphoid proliferations and is mostly performed with the conventional EuroClonality/BIOMED-2 multiplex PCR protocol and GeneScan fragment size analysis. Recently, the EuroClonality-NGS Working Group developed a method for next-generation sequencing (NGS)-based IG donality analysis. Herein, we report the results of an international multicenter biological validation of this novel method compared with the gold standard EuroClonality/BIOMED-2 protocol, based on 209 specimens of reactive and neoplastic lymphoproliferations. NGS-based IG donality analysis showed a high interlaboratory concordance (99%) and high concordance with conventional donality analysis (98%) for the molecular conclusion. Detailed analysis of the individual IG heavy chain and kappa light chain targets showed that NGS-based donality analysis was more often able to detect a clonal rearrangement or yield an interpretable result. NGS-based and conventional donality analysis detected a done in 96% and 95% of B-cell neoplasms, respectively, and all but one of the reactive cases were scored polydonal. We conclude that NGS-based IG donality analysis performs comparable to conventional donality analysis. We provide critical parameters for interpretation and discuss a first step toward a quantitative scoring approach for NGS donality results. Considering the advantages of NGS-based donality analysis, including its high sensitivity and possibilities for accurate clonal comparison, this supports implementation in diagnostic practice.