Annotation Detail

Information
Associated Genes
PDGFRA
Associated Variants
PDGFRA FIP1L1-PDGFRA
Associated Disease
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
Source Database
CIViC Evidence
Description
A patient with monoblastic myeloid sarcoma harbouring a PCR confirmed FIP1L1-PDGFRA rearrangement was treated with imatinib monotherapy. The patient demonstrated a durable response (10 wks) while on therapy which was reversed when the patient discontinued treatment. Imatinib therapy was subsequently restarted, with peripheral blood and BM analyses returning to normal after 4 weeks.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1774
Gene URL
https://civic.genome.wustl.edu/links/genes/38
Variant URL
https://civic.genome.wustl.edu/links/variants/574
Rating
3
Evidence Type
Predictive
Disease
Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
24456122
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue