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

M. van den Brand, J. Rijntjes, M. Möbs, J. Steinhilber, MY. van der Klift, KC. Heezen, LI. Kroeze, T. Reigl, J. Porc, N. Darzentas, JACW. Luijks, B. Scheijen, F. Davi, H. ElDaly, H. Liu, I. Anagnostopoulos, M. Hummel, F. Fend, AW. Langerak, PJTA....

. 2021 ; 23 (9) : 1105-1115. [pub] 20210626

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, multicentrická studie, práce podpořená grantem, validační studie

Perzistentní odkaz   https://www.medvik.cz/link/bmc22012255

Ig gene (IG) clonality 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 clonality 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 clonality analysis showed a high interlaboratory concordance (99%) and high concordance with conventional clonality analysis (98%) for the molecular conclusion. Detailed analysis of the individual IG heavy chain and kappa light chain targets showed that NGS-based clonality analysis was more often able to detect a clonal rearrangement or yield an interpretable result. NGS-based and conventional clonality analysis detected a clone in 96% and 95% of B-cell neoplasms, respectively, and all but one of the reactive cases were scored polyclonal. We conclude that NGS-based IG clonality analysis performs comparable to conventional clonality analysis. We provide critical parameters for interpretation and discuss a first step toward a quantitative scoring approach for NGS clonality results. Considering the advantages of NGS-based clonality analysis, including its high sensitivity and possibilities for accurate clonal comparison, this supports implementation in diagnostic practice.

Citace poskytuje Crossref.org

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