c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue

CPT: 81272
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Test Details


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 nearly all systemic mastocytosis, 20% to 40% core-binding factor (CBF) acute myeloid leukemia (AML), and approximately 20% high-grade myelodysplastic syndrome (MDS) and MDS-derived AML. c-KIT mutation in AML confers increased risk of relapse and decreased overall survival. Tyrosine kinase inhibitor, such as imatinib, has been evaluated to treat systemic mastocytosis and c-KIT-positive AML and MDS, and it was found effective as a single reagent or combination therapy.


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.


Polymerase chain reaction (PCR) and DNA sequencing

Specimen Requirements


Whole blood or bone marrow


3 to 5 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume

3 mL whole blood or 1 mL bone marrow


Lavender-top (EDTA) tube or green-top (sodium heparin) tube


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

Frozen specimen; hemolysis; clotted blood specimen; quantity not sufficient for analysis

Clinical Information

Special Instructions

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


Care RS, Valk PJ, Goodeve AC, et al. Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias. Br J Haematol. 2003 Jun; 121(5):775-777.12780793
Gotlib J, Berubé C, Growney JD, et al. Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leukemia with the D816V KIT mutation. Blood. 2005 Oct 15; 106(8):2865-2870.15972446
Lorenzo F, Nishii K, Monma F, Kuwagata S, Usui E, Shiku H. Mutational analysis of the KIT gene in myelodysplastic syndrome (MDS) and MDS-derived leukemia. Leuk Res. 2006 Oct; 30(10):1235-1239.16533529
Paschka P, Marcucci G, Ruppert AS, et al. Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv(16) and t(8;21): A Cancer and Leukemia Group B Study. J Clin Oncol. 2006 Aug 20; 24(24):3904-3911.16921041
Schittenhelm MM, Shiraga S, Schroeder A, et al. Dasatinib (BMS-354825), a dual SRC/ABL kinase inhibitor, inhibits the kinase activity of wild-type, juxtamembrane, and activation loop mutant KIT isoforms associated with human malignancies. Cancer Res. 2006 Jan 1; 66(1):473-481.16397263


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
480940 c-KIT Mutation, Liquid Tumor 480941 c-KIT Mutation Analysis Result 55201-8
480940 c-KIT Mutation, Liquid Tumor 480943 Nucleotide Change: 48004-6
480940 c-KIT Mutation, Liquid Tumor 480944 Amino Acid Change: 48005-3
480940 c-KIT Mutation, Liquid Tumor 480945 Background: 77202-0
480940 c-KIT Mutation, Liquid Tumor 480946 Methodology: 49549-9
480940 c-KIT Mutation, Liquid Tumor 480948 Reference: N/A
480940 c-KIT Mutation, Liquid Tumor 480949 Director Review 72486-4

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