Journal article

Targeted therapy and disease monitoring in CNTRL-FGFR1-driven leukaemia

Lauren M Brown, Ray C Bartolo, Nadia M Davidson, Breon Schmidt, Ian Brooks, Jackie Challis, Vida Petrovic, Dong-Anh Khuong-Quang, Francoise Mechinaud, Seong L Khaw, Ian J Majewski, Alicia Oshlack, Paul G Ekert



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 F..

View full abstract