Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Trp558_Lys559del (p.W558_K559del) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1, ENST00000687109.1, ENST00000687246.1 )
KIT p.Trp558_Lys559del (p.W558_K559del) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
Patients 11, 69, and 73 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant gastrointestinal stromal tumors (GISTs) harbored a primary (pre-imatinib treatment) KIT W557_K558 deletion. Following failure of imatinib, the GIST was again genotyped, but no secondary mutations were found. Patient 11 started on 25 mg sunitinib daily, for a two week on/two week off schedule. Patients 69 and 73 were on a 50 mg sunitib per day for four weeks on/ two weeks off. All three patients experienced stable disease for less than 6 months. Time to progression for patients 11, 69, and 73: 8, 22, and 10 weeks. Overall survival for patients 11, 69, and 73: 10, 38, and 19 weeks (Table A1).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4082
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/961
Rating
3
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Sunitinib
Evidence Level
C
Clinical Significance
Resistance
Pubmed
18955458
Drugs
Drug NameSensitivitySupported
SunitinibResitance or Non-Reponsetrue