Annotation Detail

Information
Associated Genes
PDGFRA
Associated Variants
PDGFRA FIP1L1-PDGFRA T674I
Associated Disease
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
Source Database
CIViC Evidence
Description
Ba/F3 cells expressing two clinically relevant, imatinib-resistant, mutant forms of FIP1L1-PDGFRA, namely T674I and D842V were tested for growth inhibition by 8 PDGFR-blocking TKIs. Strong inhibitory effects on both mutants were seen only with ponatinib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1779
Gene URL
https://civic.genome.wustl.edu/links/genes/38
Variant URL
https://civic.genome.wustl.edu/links/variants/577
Rating
3
Evidence Type
Predictive
Disease
Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1
Evidence Direction
Supports
Drug
Ponatinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
24407160
Drugs
Drug NameSensitivitySupported
PonatinibSensitivitytrue