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
- A patient treated with imatinib for a FIP1L1-PDGFRA mutation relapsed during treatment. A T674I mutation in the PDGFRA split kinase domain was hypothesized to confer resistance, due to the strong evidence of this fusion in driving myeloproliferative hypereosinophilic syndrome and the contextual similarity to T315I mutations in BCR-ABL.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1446
- Gene URL
- https://civic.genome.wustl.edu/links/genes/38
- Variant URL
- https://civic.genome.wustl.edu/links/variants/577
- Rating
- 2
- 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
- Resistance
- Pubmed
- 12660384
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |