Next generation sequencing in routine diagnostics of mature non-Hodgkin's B-cell lymphomas

Marie Fredslund Breinholt*, Lone Schejbel, Anne Ortved Gang, Torsten Holm Nielsen, Lars Møller Pedersen, Estrid Høgdall, Peter Nørgaard

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskriftArtikelForskningpeer review


INTRODUCTION: Integration of molecular characterization of lymphomas in clinical diagnostics may improve subclassification and risk-stratification, and we implemented a next generation sequencing (NGS) analysis as part of routine diagnostic work-up of all mature B-cell non-Hodgkin's lymphoma (B-NHL). Here, we present data of mutational profiles with potential complementary diagnostic, prognostic, and predictive value detected in our consecutive non-selected cohort of B-NHL patients.

METHODS: NGS results from 298 patients with both newly diagnosed and relapsed/refractory disease were included as a single center study. NGS was performed as routine analysis together with standard diagnostic work-up using a custom-made amplicon PCR-based multiplex NGS panel covering all coding exons and consensus splice sites in 59 genes.

RESULTS: Mutations were detected in 94% of the 298 samples. Most lymphomas could be classified definitively, but 24 cases were classified as small B-cell lymphomas without defining characteristics. Of these, 50% (12/24 cases) could retrospectively be assigned a likely diagnostic subtype according to mutational findings.

CONCLUSION: Implementation of a 59 gene exome sequencing panel added diagnostic value to 50% of unclassified cases and provided in 94% of the cases possible biomarkers for disease monitoring as well as potential diagnostic, prognostic, and predictive markers for future studies.

Sider (fra-til)583-591
Antal sider9
TidsskriftEuropean Journal of Haematology
Udgave nummer4
Tidlig onlinedato14 jul. 2023
StatusUdgivet, E-publikation før trykning - 14 jul. 2023

Bibliografisk note

© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


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