2013
DOI: 10.1038/leu.2013.365
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Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation

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Cited by 98 publications
(66 citation statements)
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“…In particular, NOTCH2, known as a key regulator of MZ development, was the most frequently mutated gene (20%) This frequency is consistent with the prevalence of NOTCH2 mutations documented in SMZL 5,6,18,25,26 and significantly higher than that observed in HCV-negative DLBCL (this study), and more in general, in unselected DLBCL cohorts 27,28 (Online Supplementary Table S4). All NOTCH2 mutations observed in HCV-positive DLBCL cause disruption of the protein inhibitory PEST domain and are predicted to activate NOTCH signaling.…”
Section: Discussionsupporting
confidence: 73%
“…In particular, NOTCH2, known as a key regulator of MZ development, was the most frequently mutated gene (20%) This frequency is consistent with the prevalence of NOTCH2 mutations documented in SMZL 5,6,18,25,26 and significantly higher than that observed in HCV-negative DLBCL (this study), and more in general, in unselected DLBCL cohorts 27,28 (Online Supplementary Table S4). All NOTCH2 mutations observed in HCV-positive DLBCL cause disruption of the protein inhibitory PEST domain and are predicted to activate NOTCH signaling.…”
Section: Discussionsupporting
confidence: 73%
“…3). BIRC3 inactivating mutations have been described in CLL, SMZL [91] and MCL [92,93], while TRAF3 mutations can be observed in CLL [4,10,11], SMZL [48, 94,95], DLBCL [96] and myeloma [97,98].…”
Section: Implication Of the Bcr Tlr Pathwaysmentioning
confidence: 99%
“…If CBL-MZ are to be considered the early stage of SMZL, they should share a common genetic profile with this lymphoma, including recurrent NOTCH2 mutations and, more generally, mutually exclusive lesions affecting signalling pathways involved in normal MZ differentiation (Kiel et al, 2012;Rossi et al, 2012;Parry et al, 2013;Mart ınez et al, 2014). Otherwise, if CBL-MZ represent the early phase of a SLLU, they might harbour MAP2K1 mutations and lack lesions of MZ differentiation genes (Waterfall et al, 2014).…”
Section: Molecular Lesions Of Signalling Pathway Genes In Clonal B-cementioning
confidence: 99%