Mutations in the bZip region of the CEBPA gene: A novel prognostic factor in patients with acute myeloid leukemia

Author:

Rivera Juan Carlos1,Nuñez Daniel1,Millar Elizabet1,Ramirez Kimberly1,Chandía Mauricio2,Aguayo Claudio34ORCID

Affiliation:

1. Department Medical Technology, Faculty of Medicine University of Concepción Concepción Chile

2. Flow Cytometry Laboratory, Pathological Anatomy Unit Hospital Regional Clinical Dr. Guillermo Grant Benavente Concepción Chile

3. Department of Clinical Biochemistry and Immunology, Faculty of Pharmacy University of Concepción Concepción Chile

4. Group of Research and Innovation in Vascular Health (GRIVAS Health) Chillan Chile

Abstract

AbstractBackgroundHematopoiesis, the process of blood cell formation involves on a complex network of transcription factors. Among them, the CCAAT‐enhancer‐binding protein alpha (CEBPA) plays a crucial role in maintaining the balance between myeloid proliferation and differentiation. Imbalances in this network can lead to disrupted differentiation and contribute to the development of malignant diseases.AimUnderstanding of disease development and explore potential therapeutic strategies for hematological disorders associated CEPBA gen.Materials and MethodsThe research involved a comprehensive analysis of CEBPA gene mutations in the context of acute myeloid leukemia (AML). This encompassed a thorough exploration of point mutations and double mutations in AML patients.ResultsIn the context of acute myeloid leukemia (AML), mutations in the CEBPA gene, especially point mutations, are frequently observed. A significant number of AML patients present with double mutations in CEBPA, which have been linked to a more favorable prognosis in terms of overall survival and event‐free survival. These patients also tend to exhibit enhanced responsiveness to treatment. Discussion: Unraveling the intricate interplay of transcription factors, particularly CEBPA, holds significant implications for decoding the mechanisms governing hematopoiesis. This understanding offers a potential avenue for deciphering disease development and devising novel therapeutic strategies for hematological disorders.ConclusionThe findings underscore that CEBPA mutations correlate with enhanced overall survival and event‐free survival, with relevance to those presenting within the bZip framework. This knowledge may contribute to advancing personalized treatments for hematological conditions.

Publisher

Wiley

Subject

Biochemistry (medical),Clinical Biochemistry,Hematology,General Medicine

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