TBL1XR1/TP63: a novel recurrent gene fusion in B-cell non-Hodgkin lymphoma

Blood. Volume 119, Issue 21: p. 4949-4952, 12 May 2012
10.1182/blood-2012-02-414441

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.

Supplemental Data

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  • Open-Access Data Download Manifest (6 Files)
• Clinical Data
  • CGCI-NHL Clinical Data
• mRNA
  • CGCI-NHL mRNA-Seq Level 3 Data
  • CGCI-NHL mRNA-Seq Level 3 Data (Controlled)
  • CGCI-NHL mRNA-Seq Metadata
• Whole Exome Sequencing
  • CGCI-NHL WXS Level 3 Data (Controlled)
  • CGCI-NHL WXS Metadata
• Whole Genome Sequencing
  • CGCI-NHL WGS Level 3 Data (Controlled)
  • CGCI-NHL WGS Metadata
• Miscellaneous Files
  • CGCI-NHL Sample Matrix

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