A multi-omics analysis of transformed nodal marginal zone lymphoma

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Background The mechanisms underlying transformation of nodal marginal zone lymphoma (NMZL) into diffuse large B-cell lymphoma (DLBCL) remain unclear. Patients and methods We applied a multi-omics approach to analyze genomic and transcriptomic changes in 17 NMZL and 15 transformed NMZL (tNMZL), using whole genome sequencing, targeted sequencing, and gene expression profiling. Results We included 15 nodal DLBCL cases as controls. The median fraction of genome altered was significantly higher in tNMZL compared with NMZL [0.23 (range 0.14-0.67), versus 0.11 (range 3.1 × 10 −4 -0.34), P < 0.01]. The median number of mutations was not different, with 3 (range 0-10) in NMZL, compared with 6.5 (range 2-16) ( P = 0.10) in tNMZL. In contrast, the median number of pathogenic mutations in nodal DLBCL (8.5, range 5-17) was significantly higher compared with NMZL ( P < 0.01) and tNMZL ( P = 0.04). The most frequently mutated genes in tNMZL included B2M (30%) and MEF2B (30%). Protein expression of BCL6 , a downstream target of MEF2B , was observed more frequently in tNMZL (73%), compared with NMZL (6%) ( P < 0.01). Overall, six genes were differentially expressed between NMZL and tNMZL. Conclusion In conclusion, our study indicates that transformation of NMZL is characterized by a slight increase in genomic complexity and a gain of BCL6 expression.

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