GRCh38 · COSMIC v97


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High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.
Paper ID
Pillonel V, Juskevicius D, Ng CKY, Bodmer A, Zettl A, Jucker D, Dirnhofer S and Tzankov A
Institute of Pathology and Medical Genetics, University Hospital Basel, University of Basel, Basel, Switzerland.
Leukemia, 2018;32(11):2412-2426
ISSN: 1476-5551
PMID: 29556019 (view at PubMed or Europe PMC)
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.
Paper Status