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c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue

Test Number 480940
Test number copied
CPT 81272

Test Details

Methodology

Polymerase chain reaction (PCR) and DNA sequencing

Result Turnaround Time

10 - 14 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

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

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

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.

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

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, 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

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 55201-8 480941 c-KIT Mutation Analysis Result 55201-8
480940 c-KIT Mutation, Liquid Tumor 55201-8 480943 Nucleotide Change: 48004-6
480940 c-KIT Mutation, Liquid Tumor 55201-8 480944 Amino Acid Change: 48005-3
480940 c-KIT Mutation, Liquid Tumor 55201-8 480945 Background: 77202-0
480940 c-KIT Mutation, Liquid Tumor 55201-8 480946 Methodology: 49549-9
480940 c-KIT Mutation, Liquid Tumor 55201-8 480948 Reference: N/A
480940 c-KIT Mutation, Liquid Tumor 55201-8 481527 Disclaimer: N/A
480940 c-KIT Mutation, Liquid Tumor 55201-8 480949 Director Review 72486-4
Order Code480940
Order Code Namec-KIT Mutation, Liquid Tumor
Order Loinc55201-8
Result Code480941
Result Code Namec-KIT Mutation Analysis Result
UofM
Result LOINC55201-8
Order Code480940
Order Code Namec-KIT Mutation, Liquid Tumor
Order Loinc55201-8
Result Code480943
Result Code NameNucleotide Change:
UofM
Result LOINC48004-6
Order Code480940
Order Code Namec-KIT Mutation, Liquid Tumor
Order Loinc55201-8
Result Code480944
Result Code NameAmino Acid Change:
UofM
Result LOINC48005-3
Order Code480940
Order Code Namec-KIT Mutation, Liquid Tumor
Order Loinc55201-8
Result Code480945
Result Code NameBackground:
UofM
Result LOINC77202-0
Order Code480940
Order Code Namec-KIT Mutation, Liquid Tumor
Order Loinc55201-8
Result Code480946
Result Code NameMethodology:
UofM
Result LOINC49549-9
Order Code480940
Order Code Namec-KIT Mutation, Liquid Tumor
Order Loinc55201-8
Result Code480948
Result Code NameReference:
UofM
Result LOINCN/A
Order Code480940
Order Code Namec-KIT Mutation, Liquid Tumor
Order Loinc55201-8
Result Code481527
Result Code NameDisclaimer:
UofM
Result LOINCN/A
Order Code480940
Order Code Namec-KIT Mutation, Liquid Tumor
Order Loinc55201-8
Result Code480949
Result Code NameDirector Review
UofM
Result LOINC72486-4