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
- One patient with FIP1L1/PDGFRA-positive CEL was identified as developing secondary resistance to imatinib. A PDGFRA T674I mutation was identified in the tyrosine kinase domain. Salvage therapy with nilotinib and sorafenib each failed in this patient, who was eventually transplanted with an HLA-matched sibling donor.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7020
- 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
- Imatinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 21818111
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |