Targeted therapy and disease monitoring in CNTRL-FGFR1-driven leukaemia
- Author(s)
- Brown, LM; Bartolo, RC; Davidson, NM; Schmidt, B; Brooks, I; Challis, J; Petrovic, V; Khuong-Quang, DA; MeChinaud, F; Khaw, SL; Majewski, IJ; Oshlack, A; Ekert, PG;
- Journal Title
- Pediatric Blood & Cancer
- Publication Type
- Journal Article in press
- Abstract
- 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.
- Publisher
- Wiley
- Research Division(s)
- Blood Cells And Blood Cancer
- PubMed ID
- 31250523
- Publisher's Version
- https://doi.org/10.1002/pbc.27897
- NHMRC Grants
- NHMRC/1140626,
- 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