Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT EXPRESSION
KIT EXPRESSION
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
In a prospective phase III study (SWOG S0033/CALGB 150105) of 407 patients with gastrointestinal stromal tumors (GISTs), 397 patients were observed to be CD117-positive (i.e. KIT-positive) and 10 patients were CD117-negative. Patients were treated with either 400mg or 800mg of imatinib per day. When compared to CD117-positive, GISTs, CD117-negative GISTs did not show significant difference in median time to progression (18.3 months vs. 20.5 months; P = 0.46), however, CD-117-negative GISTs showed reduced overall survival relative to CD-117-positive GISTs (25.8 months vs. 57.1 months; P= 0.01).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2480
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/429
Rating
2
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
18955451
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue