Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT UNKNOWN
KIT W557_V559insC
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 were wildtype for KIT and PDGFR and who were succinate dehydrogenase (SDH) deficient (n=6) experienced higher rates of clinical benefit (defined as complete response, partial response, or stable disease lasting >16 weeks) than patients whose GISTs were wildtype for KIT and PDGFR but were not SDH deficient (n=2). 6/6 patients with SDH deficient GISTs had clinical benefit (including 2 PRs), and their median PFS was 10 months vs 1.6 months for patients with non-SDH deficient GISTs.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4144
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/2651
Rating
2
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