Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V)
(
ENST00000257290.10 )
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V) ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- Patients 29 and 66 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant gastrointestinal stromal tumors (GISTs) harbored a primary (pre-imatinib treatment) PDGFRA D842V mutation. Following failure of imatinib, the GIST was again genotyped, but no secondary mutations were found. Patients took 50 mg sunitib per day. Patient 29 was on a treatment schedule of two weeks on/two weeks off, and patient 66 was scheduled for four weeks on/two weeks off. Patient 29 experienced stable disease for less than 6 months and patient 66 experienced disease progression. Time to progression was censored at 0.1 weeks for patient 29 and was 10 weeks for patient 66. Overall survival was 99 and censored at 129 weeks for patients 29 and 66.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4597
- Gene URL
- https://civic.genome.wustl.edu/links/genes/38
- Variant URL
- https://civic.genome.wustl.edu/links/variants/99
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Supports
- Drug
- Sunitinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 18955458
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sunitinib | Resitance or Non-Reponse | true |