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Title

Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation

AuthorsVaqué, José P.; Varela, Ignacio ; Piris, Miguel A.
Issue Date2014
PublisherNature Publishing Group
CitationLeukemia 28: 1334-1340 (2014)
AbstractSplenic marginal zone lymphoma (SMZL) is a B-cell neoplasm whose molecular pathogenesis remains fundamentally unexplained, requiring more precise diagnostic markers. Previous molecular studies have revealed 7q loss and mutations of nuclear factor κB (NF-κB), B-cell receptor (BCR) and Notch signalling genes. We performed whole-exome sequencing in a series of SMZL cases. Results confirmed that SMZL is an entity distinct from other low-grade B-cell lymphomas, and identified mutations in multiple genes involved in marginal zone development, and others involved in NF-κB, BCR, chromatin remodelling and the cytoskeleton.
URIhttp://hdl.handle.net/10261/130551
DOI10.1038/leu.2013.365
Identifiersdoi: 10.1038/leu.2013.365
e-issn: 1476-5551
issn: 0887-6924
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