Targeted therapy and disease monitoring in CNTRL-FGFR1-driven leukaemia
Journal Title
Pediatric Blood & Cancer
Publication Type
Journal Article in press
We report two patients with leukaemia driven by the rare CNTRL-FGFR1 fusion oncogene. This fusion arises from a t(8;9)(p12;q33) translocation, and is a rare driver of biphenotypic leukaemia in children. We used RNA sequencing to report novel features of expressed CNTRL-FGFR1, including CNTRL-FGFR1 fusion alternative splicing. From this knowledge, we designed and tested a Droplet Digital PCR assay that detects CNTRL-FGFR1 expression to approximately one cell in 100 000 using fusion breakpoint-specific primers and probes. We also utilised cell-line models to show that effective tyrosine kinase inhibitors, which may be included in treatment regimens for this disease, are only those that block FGFR1 phosphorylation.
WEHI Research Division(s)
Blood Cells And Blood Cancer
PubMed ID
NHMRC Grants
Terms of Use/Rights Notice
Refer to copyright notice on published article.

Creation Date: 2019-07-01 12:57:15
Last Modified: 2019-07-01 01:02:53
An error has occurred. This application may no longer respond until reloaded. Reload 🗙