Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT EXON 11 MUTATION
KIT EXON 11 MUTATION
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
This prospective study of 397 patients with incurable (i.e. metastatic or unresectable) CD117-positive Gastrointestinal stromal tumors (GISTs) examined the relationship between KIT genotype and treatment outcome for patients enrolled in the North American phase III study SWOG S0033/CALGB 150105 who were treated with either 400mg or 800mg of imatinib per day. The study found that patients whose tumors harbored mutations in KIT exon 11 had signficantly superior responses to imatinib, regardless of dose, than those whose tumors harbored wildtype KIT or KIT exon 9 mutations. This is evidenced by the findings that imatinib-treated patients whose tumors contained KIT exon 11 mutations had longer overall survival compared to those with exon 9 mutations (60.0mo vs.38.4mo, P=0.011) or wildtype KIT (60mo vs. 49.0mo, P=0.049). Patients with exon 11 mutations had improved progression-free survival in comparison to those with exon 9 mutations (24.7mo vs. 16.7mo, P=0.0013) or wildtype KIT (24.7mo vs. 12.8mo, P=0.005).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2471
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/66
Rating
4
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