Annotation Detail
Information
- Associated Genes
- CSF3R
- Associated Variants
-
CSF3R T618I
CSF3R T618I - Associated Disease
- chronic neutrophilic leukemia
- Source Database
- CIViC Evidence
- Description
- Case report of a patient treated with ruxolitinib, an FDA-approved JAK1/2 inhibitor, which resulted in dramatic improvement of his blood counts. He also had significant reduction of spleen volume and constitutional symptoms.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6381
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1239
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2387
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Chronic Neutrophilic Leukemia
- Evidence Direction
- Supports
- Drug
- Ruxolitinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25180155
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Ruxolitinib | Sensitivity | true |