Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Leu863= (p.L863=) ( ENST00000412167.7, ENST00000288135.6, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Leu863= (p.L863=) ( ENST00000689994.1, ENST00000687246.1, ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687295.1, ENST00000689832.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
acute myeloid leukemia
Source Database
CIViC Evidence
Description
Patients with relapsed/refractory AML or 60 years old or more with untreated AML were enrolled on a phase II study of selumetinib and analyzed for mutations in KIT, NRAS, KRAS and FLT3. KIT mutation analysis (N=41) revealed the presence of a synonymous SNP rs3733542 (known population frequency of 20%) in exon 18 of the KIT gene in six of ten (60%) patients assessed as having a response or disease stabilization to selumetinib. In contrast, this SNP was detected in only seven of 31 (23%) patients without a response or disease stabilization (P = 0.027, Chi-squared test).
Variant Origin
Common Germline
Variant Origin
Common Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1136
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/482
Rating
1
Evidence Type
Predictive
Disease
Acute Myeloid Leukemia
Evidence Direction
Supports
Drug
Selumetinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
24178622
Drugs
Drug NameSensitivitySupported
SelumetinibSensitivitytrue