TBL1XR1/TP63: a novel recurrent gene fusion in B-cell non-Hodgkin lymphoma
Menée sur deux cohortes successives de 96 et 157 cas de lymphome diffus à grandes cellules B, cette étude identifie une nouvelle fusion de gènes (TBL1XR1 et TP63) associée à un sous-type de la maladie
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 centre B cell-like (GCB) DLBCL is 5% (6/115). The fusion appears exclusive to GCB, and was not seen in 138 non-GCB cases examined (p=0.008, Fisher exact test) but was present at low incidence in follicular lymphoma (1/81). 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.