The Impact of Cebpa Gene Mutation on Cell Morphology and ImmunophenoTyping in a 48-Year-old Acute Myeloid Leukimia Patient

Abstract

Acute myeloid leukemia (AML) is a type of blood cancer that develops due to DNA mutations in the stem cells. AML survival rates show only 30.5% which significantly contributes to the number of cancer-related mortality. One of the altered genes that are frequently identified in AML patients is CEBPA. The CEBPA gene encodes the C/EBPɑ-p42 and C/EBPɑ-p30 that consist of C-terminal and N-terminal domains. This gene is substantially expressed during myeloid differentiation, binds to the promoters of multiple genes relevant to myeloid development, and regulates gene expression at various stages of myeloid maturity. Two-site mutation of this gene has been commonly applied for the prognosis of AML. However, the significance of one-site mutation in the development of AML has not been well established. Concerning to this issue, the current study aimed to observe the clinical features of 48-years old AML patients with C-terminal CEBPA mutations through Next-generation sequencing, immunophenotyping, and Wright’s staining. A 48-year-old AML patient's CEBPA gene mutation resulted in a change in C.690G>T, which denotes benign mutations. However, this study demonstrated that this mutation had a relationship with the clinical significance of immunophenotyping and cell morphology in the patient as evidenced by the higher expression of CD19+. Thus, further studies to understand the impacts of CEBPA gene alteration on the development of AML are still needed.