c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue
Use
c-KIT is a proto-oncogene that encodes a type III transmembrane tyrosine kinase. c-KIT and its ligand stem cell factor have a key role in survival, proliferation, differentiation and functional activation of hematopoietic progenitor cells. c-KIT mutations are reported in the majority of systemic mastocytosis cases. For KIT D816V mutation analysis by high sensitivity digital PCR, please see test KIT D816V Digital PCR. c-KIT mutations account for 20% to 40% in core-binding factor (CBF) acute myeloid leukemia (AML). c-KIT mutations also occur in MDS and contribute to MDS risk stratification. c-KIT mutation in AML confers increased risk of relapse and decreased overall survival. Tyrosine kinase inhibitors, such as imatinib and avapritinib, have been evaluated to treat systemic mastocytosis. Imatinib has also been evaluated to treat c-KIT-positive AML and MDS, and it was found effective as a single reagent or combination therapy.
Special Instructions
Not provided.
Limitations
Genomic DNA was purified from the provided specimen with Exons 8 and 17 of c-KIT gene coding subjected to PCR amplification and bidirectional sequencing in duplicate, identifying sequence variations. The assay can detect approximately 10% of cells containing c-KIT mutations among nonmutant cells. It will not detect mutations below this sensitivity threshold. Molecular-based testing is highly accurate; however, rare diagnostic errors may occur.
Methodology
PCR-based (PCR)
Biomarkers
No genes
Gene
LOINC Codes
- 55201-8 - KIT gene Mut Anl Bld/T
- 55201-8 - KIT gene Mut Anl Bld/T
- 48004-6 - DNA change
- 48005-3 - Amino acid change
- 77202-0 - Laboratory comment Report
- 49549-9 - Ref lab test method
- 72486-4 - Lab director name Provider
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 to 5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Collection Instructions
Submit at room temperature. Indicate date and time of collection on the test request form.
Storage Instructions
Ship at room temperature; if specimen is stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Specimen does not meet all of the above criteria for sample type, container, minimum volume, collection and storage; unsuitable specimens include but are not limited to: frozen whole blood or marrow; a leaking tube; clotted blood or marrow; a grossly hemolyzed specimen or otherwise visibly degraded; specimen suspected of being contaminated by another specimen; specimen contains specific foreign material
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