TY - JOUR

T1 - Next generation sequencing in routine diagnostics of mature non-Hodgkin's B-cell lymphomas

AU - Breinholt, Marie Fredslund

AU - Schejbel, Lone

AU - Gang, Anne Ortved

AU - Nielsen, Torsten Holm

AU - Pedersen, Lars Møller

AU - Høgdall, Estrid

AU - Nørgaard, Peter

N1 - Publisher Copyright: © 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2023

Y1 - 2023

N2 - 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.

AB - 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.

KW - hematology

KW - lymphoma

KW - next generation sequencing

KW - pathology

KW - real-world data

U2 - 10.1111/ejh.14048

DO - 10.1111/ejh.14048

M3 - Journal article

C2 - 37452559

AN - SCOPUS:85165261188

VL - 111

SP - 583

EP - 591

JO - Scandinavian Journal of Haematology

JF - Scandinavian Journal of Haematology

SN - 0902-4441

IS - 4

ER -