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- Title
Next generation sequencing in routine diagnostics of mature non‐Hodgkin's B‐cell lymphomas.
- Authors
Breinholt, Marie Fredslund; Schejbel, Lone; Gang, Anne Ortved; Nielsen, Torsten Holm; Pedersen, Lars Møller; Høgdall, Estrid; Nørgaard, Peter
- Abstract
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.
- Subjects
NUCLEOTIDE sequencing; NON-Hodgkin's lymphoma; LYMPHOMAS
- Publication
European Journal of Haematology, 2023, Vol 111, Issue 4, p583
- ISSN
0902-4441
- Publication type
Article
- DOI
10.1111/ejh.14048