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 cohort of seven male patients with myeloproliferative hypereosinophilic syndrome and elevated serum tryptase levels were enrolled in a study of imatinib mesylate therapy. All seven patients demonstrated improvement in clinical symptoms and resolution of laboratory abnormalities and bone marrow pathology in response to treatment. Complete molecular remission of FIP1L1-PDGFRA was observed in 5 of 6 patients tested post-therapy.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1441
Gene URL
https://civic.genome.wustl.edu/links/genes/38
Variant URL
https://civic.genome.wustl.edu/links/variants/574
Rating
4
Evidence Type
Predictive
Disease
Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
14504092
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue