Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT EXON 9 MUTATION
KIT EXON 9 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 monotherapy in patients with metastatic and/or unresectable gastrointestinal stromal tumors (GISTs) who failed previous treatments with imatinib. In response to regorafenib monotherapy, patients whose GISTs harbored KIT exon 9 mutations experienced lower rates of clinical benefit (defined as complete response, partial response, or stable disease lasting >16 weeks) than patients whose GISTs harbored KIT exon 11 mutations or KIT/PDGFR wildtype SDH-deficient patients. Of 3 patients with KIT exon 9 mutant GISTs, 2 experienced clinical benefit (including one PR), and the median progression free survival was 5.7 months.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4104
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/509
Rating
3
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Regorafenib
Evidence Level
C
Clinical Significance
Reduced Sensitivity
Pubmed
27371698
Drugs
Drug NameSensitivitySupported
RegorafenibN/Atrue