Background: Acute myeloid leukemia (AML) is a genetically heterogeneous leukemia characterized by abnormal myeloid blast accumulation, disrupting normal hematopoiesis and leading to rapid progression. Objective: To investigate SNPs within the 3’UTR of the CCAAT/enhancer-binding protein alpha (CEBPA) gene and its association with AML in Iraqi patients. Methods: The study was carried out on 120 AML patients classified into newly diagnosed, induction chemotherapy, and consolidation chemotherapy stages (40 each), and 40 individuals as a control group. Genomic DNA was extracted from AML patients and controls, followed by PCR amplification and Sanger sequencing of the 3’UTR region of the CEBPA gene. The AML patients were characterized by age, sex, FMS-like tyrosine kinase 3 internal tandem duplication (FLT3-ITD), Nucleophosmin1 (NPM1) mutations, the French-American-British classification (FAB), and the World Health Organization (WHO). Results: The results revealed significant age differences among AML subgroups and notable hematological abnormalities, including reduced hemoglobin and platelet levels. According to the WHO classification, PML-RARA emerged as the most frequent fusion transcript. Based on FAB classification, M3 was the most common, followed by M4 and M0. The NPM1 mutations were more common than FLT3-ITD. The sequencing of the CEBPA 3′UTR region identified 83 variants, including 46 novel ones, 14 new forms of known SNPs, and 23 registered SNPs, reflecting substantial regulatory heterogeneity in this non-coding region. Conclusions: The CEBPA 3′UTR mutations reveal considerable genetic diversity among Iraqi AML patients, suggesting a potential regulatory role.
