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 part of 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 who were treated with either 400mg or 800mg of imatinib per day. This patient's GIST had a KIT exon 8 deletion/insertion TYD417-419Y. This patient represents the first reported sporadic GIST with a KIT exon 8 mutation as germline DNA from surrounding normal tissue was was KIT wildtype. The patient had an unconfirmed partial response to 400mg daily imatinib (TTP 8.1 months) and a censored OS of 59.3 months.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2417
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/2620
Rating
2
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