Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Lys643Glu (p.K643E) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Lys643Glu (p.K643E) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
mucosal melanoma
Source Database
CIViC Evidence
Description
A 69 y.o. woman presented with metastatic mucosal melanoma of the anus. KIT was amplified in the tumor and harbored the K642E mutation. Post surgery with extensive margins, she was given a dose of anti-CTLA-4 antibody and adjuvant radiation therapy for 2.5 weeks. Two weeks post radiation she developed nodules in the same region and testing indicated they were malignant melanoma with high KIT expression. She enrolled in a clinical trial with a dose of 400mg imatinib per day (Nov 2006). Less than 4 weeks later, all nodules had disappeared. Upon a lowered dosage to 200mg of imatinib, the nodules returned and subsequently the dosage was increased to 600mg/day. The patient remained melanoma-free on 600mg imatinib until a follow up in Jan 2008. The authors do not provide further details on patient outcome.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2889
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/978
Rating
2
Evidence Type
Predictive
Disease
Mucosal Melanoma
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
18510589
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue