Annotation Detail

Information
Associated Genes
PDGFRA
Associated Variants
PDGFRA p.Val561Asp (p.V561D), ENSG00000282278 c.1018-56T>A ( ENST00000257290.10 )
PDGFRA p.Val561Asp (p.V561D), ENSG00000282278 c.1018-56T>A ( ENST00000257290.10 )
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
This case study examines one patient from 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. Patients in this cohort were treated with either 400mg or 800mg of imatinib per day. This patient's GIST harbored PDGFRA exon 12 V561D. The patient was treated with 800mg of imatinib per day, and had not progressed or died as of 31 months of follow up (vs median TTP of 12.8 months for WT).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2474
Gene URL
https://civic.genome.wustl.edu/links/genes/38
Variant URL
https://civic.genome.wustl.edu/links/variants/941
Rating
1
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
18955451
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue