Deciphering unique CCAAT/Enhancer Binding Protein Alpha mutations in acute myeloid leukemia in Iran: a case report

Abstract

Acute myeloid leukemia (AML) remains a challenging hematological malignancy due to its heterogeneous nature and the complexity of its genetic underpinnings. Recent advances in genetic research have illuminated the position of the CCAAT/Enhancer Binding Protein Alpha (CEBPA) gene in AML pathogenesis, highlighting its importance in regulating granulocytic lineage differentiation. This study reports a unique case of AML in a 25-year-old man from Iran, characterized by novel monoallelic mutations inside the CEBPA gene, namely a deletion mutation (c.129 delC) and a duplication mutation (c.929_957dup), located in the N-terminal and C-terminal domains of the CEBPA protein. These mutations, identified through comprehensive genetic analysis of bone marrow samples, represent a significant contribution to the understanding of AML genetics. The patient’s clinical course, marked by rapid disease progression and treatment-associated complications, underscores the critical need for personalized treatment strategies informed by genetic profiling. The absence of these mutations in public databases and their pathogenic confirmation through bioinformatics tools suggest their potential as previously undocumented genetic variants influencing AML development. This case report emphasizes the importance of genetic testing in AML diagnosis and management, providing insights that might guide the development of targeted treatments and enhance patient care. The discovery of these novel CEBPA mutations not only expands our understanding of AML’s genetic variety but also highlights the potential for precision medication in transforming treatment outcomes.