c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue

CPT: 81272
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Test Details

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 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.

Limitations

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.

Methodology

Polymerase chain reaction (PCR) and DNA sequencing

Specimen Requirements

Specimen

Whole blood or bone marrow

Volume

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

Minimum Volume

3 mL whole blood or 1 mL bone marrow

Container

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

Collection

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.

References

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

LOINC® Map

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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