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 phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy of regorafenib in patients with metastatic and/or unresectable gastrointestinal stromal tumors (GISTs) who failed previous treatments with imatinib. Patients whose GISTs harbored KIT exon 11 mutations (n=19) experienced higher rates of clinical benefit (defined as complete response, partial response, or stable disease lasting >16 weeks) than patients whose GISTs harbored KIT exon 9 mutations. 15/19 patients with exon 11 mutant GISTs experienced clinical benefit (including 2 PRs). KIT exon 11 mutant GISTs treated with regorafenib monotherapy were associated with improved median progression free survival (13.4 months vs. 5.7 and 1.6 months, P<0.0001), as compared to patients with KIT exon 9 mutation (n=2) and patients with KIT wildtype, non-succinate dehydrogenase-deficient tumors (n=2).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/6377
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/66
Rating
3
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Regorafenib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
27371698
Drugs
Drug NameSensitivitySupported
RegorafenibSensitivitytrue