Einstein (São Paulo)
Print version ISSN 1679-4508
MACHADO, Luis Eduardo Silva et al. The detection of KIT mutations in acute myeloid leukemia. Einstein (São Paulo) [online]. 2012, vol.10, n.3, pp. 286-291. ISSN 1679-4508. http://dx.doi.org/10.1590/S1679-45082012000300005.
OBJECTIVE: This study describes a new method used in the clinical laboratory at Hospital Israelita Albert Einstein to detect mutations in exons 8 and 17 of the KIT gene in patients with acute myeloid leukemia. METHODS: Genomic DNA extraction was performed on 54 samples of peripheral blood or bone marrow from patients with acute myeloid leukemia. The extracted DNA was amplified by polymerase chain reaction and sequenced, and the fragments were analyzed. RESULTS: Within the analyzed samples, we detected four mutations in exon 8, two mutations in exon 17, and mutations or a double mutation in one sample. CONCLUSION: The tests detecting mutations in exon 8 and 17 on the KIT gene were successfully standardized. The test is now included among the routine diagnostics employed for patients at Hospital Israelita Albert Einstein clinical laboratory.
Keywords : Leukemia, myeloid, acute; Receptor protein-tyrosine kinase; Core binding factors; Gene expression.