FUSIONS INVOLVING BCOP AND CREBBP ARE RARE EVENTS IN INFILTRATING GLIOMA
Dr. Jeffrey Greenfield recently contributed to the publication of a peer-reviewed article describing a rare BCOR-CREBBP fusion in a pediatric patient with a high-grade infiltrating astrocytoma.
Sequencing analysis of 686 primary CNS tumor cases (adult and pediatric), led the team to team identify an additional case demonstrating a BCOR fusion to a paralog of CREBBP, namely EP300. In addition, they detected three additional fusions involving either BCOR or CREBBP.
These findings add to existing literature implicating BCOR as having a potential driving role in CNS tumors. However, given that the BCOR CREBBP fusion was not found to be recurrent and may represent a stochastic event, further screening and functional studies are warranted to further define the oncogenic potential of BCOR and related fusions in infiltrating gliomas.