Characterizing the genetic background of nodal marginal zone lymphoma

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 small nodal 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. The dataset contains Agilent SurePrint 180k aCGH data for 22 nodal marginal zone lymphomas