Determination of mutations in the C-KIT gene

Mutation of the KIT gene leads to abnormal signaling and proliferation of cells carrying the mutant protein, which plays a central role in oncogenesis. The gene expression product — proto-oncogene CD117 in a healthy person is synthesized on the surface of mast cells, stem cells, melanocytes, interstitial cells of Cajal in the wall of GI tract organs, sweat gland cells and is responsible for cell proliferation, differentiation, and survival. Altered variants of CD117, the synthesis of which is primarily caused by mutations in the KIT (c-kit) gene, play a significant role in the formation of many types of tumors, including gastrointestinal stromal tumors (GIST), acute myeloid leukemia (AML), melanoma, and testicular carcinoma. GISTs are distinguished by high expression of the CD117 marker and arise in different parts of the GI tract from precursors of the interstitial cells of Cajal. KIT gene mutations in acute myeloid leukemias determine an unfavorable prognosis. Molecular genetic testing for the determination of mutations in the KIT gene is necessary to determine the patient's individual sensitivity to targeted drug therapy.

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