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
- PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 A190T was detected only at relapse in 10 (8 Chinese; 2 German) cases, which all relapsed early while on therapy (Chinese 8/8, 100% vs. WT PRPS1 77/120 (64%); German 2/2 (100%) vs. WT PRPS1 79/214 (37%)). Based on protocols cited and the time to relapse, all 10 relapses harboring PRPS1 A190T were exposed to maintenance therapy that consisted of daily doses of thiopurine (mercaptopurine or thioguanine) treatment. A190T could drive clonal outgrowth through the promotion of thiopurine resistance.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7888
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4566
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2929
- Rating
- 3
- Evidence Type
- Prognostic
- Disease
- Childhood B-cell Acute Lymphoblastic Leukemia
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 25962120
Drugs