Milad Gholami - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Sahar Bayat - Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Saba Manoochehrabadi - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran & Hematology-Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Hossein Pashaiefar - Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Mir Davood Omrani - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hasan Jalaeikhoo - AJA Cancer Research Center (ACRC), AJA University of Medical Sciences, Tehran, Iran.
Vahid Reza Yassaee - Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mohammad Reza Ebrahimpour - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Farkhondeh Behjati - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Reza Mirfakhraie - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran & Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: The pathogenicity of acute myeloid leukemia (AML) is highly influenced by genetic alterations, such as chromosomal abnormalities. Additionally, aberrations in the mechanisms involved in gene expression have been identified to have a role in the development of AML. Contradictory evidence has been reported concerning the expression of the CEBPA gene in AML patients. Additionally, investigation into the expression of the CEBPA-AS gene has yet to be explored in AML patients. The aim of the present study was to investigate the relationship between the expression of the CEBPA and CEBPA-AS genes and AML in Iranian patients. Methods: Using quantitative real-time PCR, the expression of the CEBPA and CEBPA-AS genes was examined in the peripheral blood samples of 58 patients with de novo adult AML, and in 20 healthy controls.     Results: Overall, CEBPA expression analysis showed a significant up-regulation in AML patients compared with healthy controls. Interestingly, a significant up-regulation of CEBPA was detected in the male AML patients. Significant CEBPA over-expression was observed in M0 (p-value=0.0001), M3 (p-value= 0.012) and M4 (p-value= 0.000) FAB subtypes. Our data has also demonstrated that CEBPA expression is up-regulated in favorable (p-value= 0.006) and adverse (p-value= 0.042) cytogenetic risk groups. In addition, the expression of CEBPA was significantly increased in AML patients with an abnormal karyotype. Ectopic expression of CEBPA-AS was detected in seven of the AML patients. Conclusions: Our study provides evidence for the up-regulation of CEBPA and the ectopic expression of CEBPA-AS in AML patients, suggesting that these two genes may play an important role in the pathogenesis of AML. The role of CEBPA and CEBPA-AS in AML patients should be further explored. This will offer potential opportunities for the development of novel treatment strategies.  

Acute Myeloid Leukemia, CEBPA, CEBPA-AS, de novo, Expression.