Next-Generation Sequencing-Based Clonality Assessment of Ig Gene Rearrangements: A Multicenter Validation Study by EuroClonality-NGS
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu časopisecké články, multicentrická studie, práce podpořená grantem, validační studie
PubMed
34186174
DOI
10.1016/j.jmoldx.2021.06.005
PII: S1525-1578(21)00176-8
Knihovny.cz E-zdroje
- MeSH
- B-buněčný lymfom genetika MeSH
- B-lymfocyty imunologie MeSH
- buněčné klony imunologie MeSH
- fenotyp MeSH
- folikulární lymfom genetika MeSH
- genová přestavba * MeSH
- geny pro imunoglobuliny * MeSH
- imunoglobuliny - kappa-řetězce genetika MeSH
- lidé MeSH
- multiplexová polymerázová řetězová reakce metody MeSH
- senzitivita a specificita MeSH
- správnost dat MeSH
- těžké řetězce imunoglobulinů genetika MeSH
- vysoce účinné nukleotidové sekvenování metody MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
- validační studie MeSH
- Názvy látek
- imunoglobuliny - kappa-řetězce MeSH
- těžké řetězce imunoglobulinů MeSH
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.
Department of Pathology Radboud University Medical Center Nijmegen the Netherlands
Hematology Department Hospital Pitié Salpêtrière and Sorbonne University Paris France
Institute of Pathology and Neuropathology University Hospital Tübingen Tübingen Germany
Institute of Pathology Charité Universitätsmedizin Berlin Germany
Molecular Medicine Program Central European Institute of Technology Brno Czech Republic
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