Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT UNKNOWN
KIT W557_V559insC
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
This patient was from a larger cohort of 397 patients with incurable (i.e. metastatic or unresectable) CD117-positive Gastrointestinal stromal tumors (GISTs) enrolled in the North American phase III study SWOG S0033/CALGB 150105. Patients in the study were treated with either 400mg or 800mg of imatinib per day. This patient's GIST harbored a homozygous deletion of KIT codons 484 to 487 (KHNG; K484_G487del). The patient's response to imatinib was not assessed, and the TTP was 46.9 months.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2465
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/2622
Rating
1
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
18955451
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue