c-KIT Mutation Analysis

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.

Please direct any questions regarding this test to oncology customer service at 800-345-4363.

Genomic DNA was purified from the provided specimen. Exons 8 and 17 of c-KIT gene coding were subjected to PCR amplification and bidirectional sequencing in duplicate to identify sequence variations. This assay has a sensitivity to detect approximately 10% population of cells containing the c-KIT mutations in a background of nonmutant cells. This assay will not detect the mutation below the sensitivity of the assay. Molecular-based testing is highly accurate but, as in any laboratory test, rare diagnostic errors may occur.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Polymerase chain reaction (PCR) and DNA sequencing