Abstract
Recently, the landscape of single base mutations in diffuse large B-cell lymphoma (DLBCL) was described. Here we report the discovery of a gene fusion between TBL1XR1 and TP63, the only recurrent somatic novel gene fusion identified in our analysis of transcriptome data from 96 DLBCL cases. Based on this cohort and a further 157 DLBCL cases analyzed by FISH, the incidence in de novo germinal center B cell-like (GCB) DLBCL is 5% (6 of 115). The fusion appears exclusive to GCB and was not seen in 138 non-GCB cases examined (P = .008, Fisher exact test) but was present at low incidence in follicular lymphoma (1 of 81). In all 7 cases identified, the 3' end of the fusion consists of exons 4 and onwards of TP63. The recurrence, subtype enrichment, and the remarkably conserved nature of the TP63 portion of the fusion suggest an important functional role in the lymphomas that harbor this event.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Validation Study
MeSH terms
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Base Sequence
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Chromosomes, Human, Pair 3 / genetics
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Cohort Studies
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DNA Mutational Analysis
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Gene Frequency
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Genetic Association Studies
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Humans
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In Situ Hybridization, Fluorescence
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Incidence
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Lymphoma, B-Cell / epidemiology
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Lymphoma, B-Cell / genetics*
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Lymphoma, B-Cell / metabolism
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Lymphoma, B-Cell / pathology
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Lymphoma, Non-Hodgkin / epidemiology
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Lymphoma, Non-Hodgkin / genetics
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Lymphoma, Non-Hodgkin / metabolism
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Lymphoma, Non-Hodgkin / pathology
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Molecular Sequence Data
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Nuclear Proteins / genetics*
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Oncogene Proteins, Fusion / genetics*
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Receptors, Cytoplasmic and Nuclear / genetics*
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Repressor Proteins / genetics*
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Transcription Factors / genetics*
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Tumor Suppressor Proteins / genetics*
Substances
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Nuclear Proteins
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Oncogene Proteins, Fusion
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Receptors, Cytoplasmic and Nuclear
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Repressor Proteins
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TBL1XR1 protein, human
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TP63 protein, human
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Transcription Factors
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Tumor Suppressor Proteins