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DETECTION OF FLT3, NPM1, CEBPA MUTATIONS IN DE NOVO IN ACUTE MYELOID LEUKEMIA AT BLOOD TRANSFUSION HEMATOLOGY HOSPITAL AND CHO RAY HOSPITAL
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Abstract
Background: Acute myeloid leukemia (AML) is a malignancy of myeloid progenitor cells and is heterogeneous in both morphology and prognosis. Gene mutations and chromosomal abnormalities play essential role in risk classification. Investigation of FLT3, NPM1 and CEBPA mutations in patients with acute myeloid leukemia has practical and scientific significance. Materials and methods: Bone marrow or peripheral blood samples of 248 newly diagnosed patients with AML at Blood Transfusion Hematology Hospital and Cho Ray Hospital were collected to investigate FLT3, NPM1 and CEBPA mutations by using Sanger sequencing method. Results: The frequency of FLT3, NPM1 and CEBPA mutations were seen in 29.4%, 24.2% and 19.8% of patients, respectively. Among FLT3 mutations, FLT3-ITD mutation was detected in 14.9% cases, FLT3-TKD in 6.5% and other type in 2.4% cases. The FLT3-ITD mutant had diverse insertion lengths and sites. NPM1 mutation type A was found in the majority of cases (83%). In cases of CEBPA mutations, 11.6% of patients carried 1 type of mutation and 8.2% carried 2 types of mutations. There are 11/23 patients with 2 types of CEBPA mutations were performed cloning in T-vector, and recorded that 5/11 patients (45.5%) carried biallelic mutations. FLT3, NPM1 and CEBPA mutations genes might occur individually or together. Conclusion: These 3 genes mutated with high frequency in AML patients. The occurrence of their mutation has prognostic significance, so it is necessary to perform routine in clinical practice to classify prognosis and select the appropriate treatment regimen.
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Keywords
FLT3, NPM1, CEBPA, acute myeloid leukemia
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