Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT V569_L576DEL
KIT V569_L576DEL
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
This study (NCT01459757) is a retrospective analysis of sunitinib efficacy on imatinib resistant or intolerant gastrointestinal stromal tumor (GIST) patients who were treated in an open-label clinical trial (NCT00094029). Tumor tissue for mutational status assessment was obtained from 230 patients on one or more occassions (pre-imatinib, post-imatinib/pre-sunitinib, post-sunitinib). Tissue was assessed for mutations in KIT exons 9, 11, 13, and 17 and in PDGFRA exons 12 and 18. With sunitinib treatment, patients with a primary (pre-imatinib) KIT exon 9 mutation (n=42) displayed significantly better PFS compared with those with a primary KIT exon 11 mutation (n=143; p = .011), significantly longer OS (p =.002), and significantly higher ORR (p=.012). The authors conclude that sunitinib displays higher activity in KIT exon 9 vs KIT 11 mutant GIST patients.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4603
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/1551
Rating
3
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Sunitinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
26772734
Drugs
Drug NameSensitivitySupported
SunitinibSensitivitytrue