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Abstract Background: Acute myeloid leukemia (AML) is clinically and molecularly heterogeneous disease. Currently, cytogenetic findings provide the most important prognostic information and are used to guide risk-adapted treatment strategies. The identification of molecular markers that precisely differentiate a patient’s risk could improve treatment outcome, and deeply refine the prognosis of patients with AML. Aim: to assess the prognostic role of myeloid transcription factor gene CEBPA (CCAAT/ enhancer binding protein-α), a novel gene involved in leukemia in Egyptian adults AML. Materials and Methods: Screening for CEBPA mutations was assessed using PCR-single-strand conformation polymorphism (PCR-SSCP) in pretreatment bone marrow samples from 55 newly diagnosed adult AML Results: CEBPA mutations were found in 11 (20%) of 55 AML patients. They had significantly higher hemoglobin (p= 0.037), and lower LDH (p=0.003) levels when compared to those without. CEBPA mutations were frequently detected in M4 (45.5%) and M2 (27.2%) subtypes, and significantly associated with normal karyotype (90.9%, p=0.007). Patients with CEBPA mutations had significantly higher complete remission (p= 0.047), lower mortality (p= 0.047) , showed longer DFS (p=0.005) and OS (p=0.013). Multivariate analysis confirmed CEBPA gene mutations as a good prognostic factor for OS (P =0.006). Conclusion: CEBPA mutation status may be a prognostic factor for favorable outcome in AML patients. Furthermore, its incorporation into novel risk-adapted therapeutic strategies will improve the currently disappointing cure rate of this group of patients. |