The detection of KIT mutations in acute myeloid leukemia

Abstract

Objective: This study describes a new method used in the clinicallaboratory at Hospital Israelita Albert Einstein to detect mutationsin exons 8 and 17 of the KIT gene in patients with acute myeloidleukemia. Methods: Genomic DNA extraction was performed on 54samples of peripheral blood or bone marrow from patients with acutemyeloid leukemia. The extracted DNA was amplified by polymerasechain reaction and sequenced, and the fragments were analyzed.Results: Within the analyzed samples, we detected four mutations inexon 8, two mutations in exon 17, and mutations or a double mutationin one sample. Conclusion: The tests detecting mutations in exon 8and 17 on the KIT gene were successfully standardized. The test isnow included among the routine diagnostics employed for patients atHospital Israelita Albert Einstein clinical laboratory.

Keywords

• Leukemia
• myeloid
• acute
• Receptor protein-tyrosine kinase
• Core binding factors
• Gene expression