Next generation sequencing in routine diagnostics of maturenon‐Hodgkin's B‐cell lymphomas

Abstract

AbstractIntroductionIntegration 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.MethodsNGS 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.ResultsMutations 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.ConclusionImplementation 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.