Annotation Detail
Information
- Associated Genes
- PDGFRB
- Associated Variants
- PDGFRB EBF1-PDGFRB
- Associated Disease
- acute lymphoblastic leukemia
- Source Database
- CIViC Evidence
- Description
- A 10-year-old boy with B-cell acute lymphoblastic leukemia refractory to conventional chemotherapy and harboring an EBF1-PDGFRB fusion responded to imatinib plus induction chemotherapy (vincristine, daunorubicin, prednisone, and intrathecal methotrexate). Complete remission was achieved with bone marrow MRD of 0.059% by flow cytometry and normal PDGFRB by FISH. Consolidation therapy with cyclophosphamide, cytarabine, mercaptopurine, and imatinib followed and the patient was still in remission 10 months after beginning imatinib.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1310
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4176
- Variant URL
- https://civic.genome.wustl.edu/links/variants/535
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Acute Lymphoblastic Leukemia
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 23835704
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Sensitivity | true |