Targeted therapy and disease monitoring in CNTRL-FGFR1-driven leukaemia.
Pediatr Blood Cancer
; 66(10): e27897, 2019 10.
Article
en En
| MEDLINE
| ID: mdl-31250523
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Leucemia
/
Proteínas de Ciclo Celular
/
Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos
/
Terapia Molecular Dirigida
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Australia