Abstract
Nodal marginal zone lymphoma (NMZL) is a rare small B-cell lymphoma lacking disease-defining phenotype and precise diagnostic markers. To better understand the mutational landscape of NMZL, particularly in comparison to other nodal small B-cell lymphomas, we performed whole-exome sequencing, targeted high-throughput sequencing, and array-comparative genomic hybridization on a retrospective series. Our study identified for the first time recurrent, diagnostically useful, and potentially therapeutically relevant BRAF mutations in NMZL. Sets of somatic mutations that could help to discriminate NMZL from other closely related small B-cell lymphomas were uncovered and tested on unclassifiable small B-cell lymphoma cases, in which clinical, morphological, and phenotypical features were equivocal. Application of targeted gene panel sequencing gave at many occasions valuable clues for more specific classification.
Highlights
Nodal marginal zone B-cell lymphoma (NMZL) is a rare disease and represents
Gene mutation frequency data were retrieved from previously published sequencing studies with data accessibility for NMZL [8, 16, 28, 29], lympho-plasmacytic lymphomas (LPL) [16, 29,30,31], extranodal MZL (EMZL) [16, 32,33,34], and splenic MZL (SMZL) [16, 29, 35,36,37,38,39,40]
We further identified a significant enrichment of genes involved in chemokine, insulin, IL4, and mTORsignaling in NMZL compared to EMZL
Summary
Nodal marginal zone B-cell lymphoma (NMZL) is a rare disease and represents
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