Detection of CEBPA mutations in acute myeloid leukemia patients.

Introduction: While about half of AML patients can be classified by a specific genetic abnormality, around half of cases are placed into the cytogenetically normal AML . Molecular genetics has already provided important insights to the diagnosis, risk stratification and treatment management of acute myeloid leukemia. Mutations affecting CCAAT/enhancer binding protein alpha (CEBPA ) Identify a subset of acute myeloid leukemia(AML) patients with favorable outcome .Methods: In this study CEBPA mutation status was determined in 80 patients with acute myeloid leukemia at diagnosis. Four overlapping fluorescently labeled primers used to amplify the complete coding sequences of the CEBPA gene and capillary electrophoresis was done on a 3130 Genetic Analyzer. Results: In 73 patients single fragments were ampliï پed from wild-type genomic DNA with each of the primer pairs. Overall, we identified 11 mutations in 7 patients(8.75%). Four patients were double-mut for CEBPA mutation, whereas 3 proved to be single-mut for CEBPA gene mutations. Most of the mutations were located within TAD1 and c-terminal domains of protein. Conclusion: In this study the overall incidence of CEBPA mutations was similar to other large studies. Detection of CEBPA mutation may be important in not only risk stratification but also in monitoring minimal residual disease in AML patients.

کلیدواژه ها:

CEBPA mutation ، AML