Annotation Detail

Information
Associated Genes
PDGFRA
Associated Variants
PDGFRA MUTATION
PDGFRA MUTATION
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
These four patients were part of a larger cohort of 397 patients with incurable (i.e. metastatic or unresectable) CD117-positive Gastrointestinal stromal tumors (GISTs) enrolled in the North American phase III study SWOG S0033/CALGB 150105 who were treated with either 400mg or 800mg of imatinib per day. All four patients' GISTs harbored PDGFRA exon 18 mutatations (one I843_S847delinsM, three D842_H845del). The overall survival was more than 12 months for all four of these patients (mean 40.8 months), which is comparable to patients with WT PDGFRA (49.0months).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2486
Gene URL
https://civic.genome.wustl.edu/links/genes/38
Variant URL
https://civic.genome.wustl.edu/links/variants/2623
Rating
1
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Does Not Support
Drug
Imatinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
18955451
Drugs
Drug NameSensitivitySupported
ImatinibSensitivityfalse