Annotation Detail
Information
- Associated Genes
- PRPS1
- Associated Variants
-
PRPS1 A190V
PRPS1 A190V - Associated Disease
- childhood B-cell acute lymphoblastic leukemia
- Source Database
- CIViC Evidence
- Description
- Treatment with the GART inhibitor, Lometrexol (de novo purine synthesis inhibitor), sensitized Reh cells overexpressing PRPS1 A190T to mercaptopurine (6-MP) as evidenced by significant reduction of the cell line's 6-MP IC50 and the significant increase of intracellular levels of TIMP. TIMP is one of the first metabolites 6-MP is converted to during activation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7913
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4566
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2929
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Childhood B-cell Acute Lymphoblastic Leukemia
- Evidence Direction
- Supports
- Drug
- Mercaptopurine,Lometrexol
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25962120
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Lometrexol | Sensitivity | true |
| Mercaptopurine | Sensitivity | true |