c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue

CPT: 81272
Print Share

Special Instructions

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


Expected Turnaround Time

10 - 14 days


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

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


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 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.


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.


Methodology

Polymerase chain reaction (PCR) and DNA sequencing


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

For Providers

Please login to order a test

Order a Test

© 2021 Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf