Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Asp821Tyr (p.D821Y)
(
ENST00000412167.7,
ENST00000689832.1,
ENST00000288135.6,
ENST00000687246.1,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687295.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Asp821Tyr (p.D821Y) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- FFPE tumor specimens from 295 melanoma patients were screened for KIT amplification and mutation. Of these, 51 patients had variants in KIT and 28 of these were treated with imatinib mesylate at 400 mg orally, twice daily with 25 patients eligible for response evaluation. None of the patients had mutations in BRAF, NRAS, or GNAQ. Two patients achieved a durable complete response, two achieved a durable partial response, and 5 achieved stable disease >12 weeks with a median survival of 46.3 weeks. One patient harboring a somatic D820Y mutation at roughly 50% variant allele frequency (1:1 with wild type) displayed Imatinib mesylate–resistance and disease progression, which is consistent with resistant mechanisms described in Gastro-Intestinal Stromal Tumors.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2886
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/986
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 21642685
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |