Targeted therapy and disease monitoring in CNTRL-FGFR1-driven leukaemia.
Antineoplastic Combined Chemotherapy Protocols
/ therapeutic use
Cell Cycle Proteins
/ genetics
Child
Humans
Infant
Leukemia
/ genetics
Male
Molecular Targeted Therapy
/ methods
Oncogene Fusion
Oncogene Proteins, Fusion
/ genetics
Polymerase Chain Reaction
/ methods
Protein Kinase Inhibitors
/ therapeutic use
Receptor, Fibroblast Growth Factor, Type 1
/ genetics
fusion gene
leukaemia
minimal residual disease monitoring
targeted therapies
tyrosine kinase
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
07
01
2019
revised:
13
05
2019
accepted:
09
06
2019
pubmed:
30
6
2019
medline:
6
2
2020
entrez:
29
6
2019
Statut:
ppublish
Résumé
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.
Substances chimiques
CNTRL protein, human
0
Cell Cycle Proteins
0
Oncogene Proteins, Fusion
0
Protein Kinase Inhibitors
0
FGFR1 protein, human
EC 2.7.10.1
Receptor, Fibroblast Growth Factor, Type 1
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e27897Informations de copyright
© 2019 Wiley Periodicals, Inc.
Références
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