Novel Co-frameshift mutations in N- and C-terminal regions of CEBPA in acute myeloid leukemia: A case report

Acute myeloid leukemia (AML) is a hematologic malignancy marked by abnormal myeloid cell proliferation or differentiation arrest in the bone marrow. AML prognosis is influenced by genetic mutations, including in NPM1, FLT3-ITD, cKIT, and CEBPA genes. CEBPA, located on chromosome 19q13.11, is critical for myeloid differentiation in the hematopoietic system, and mutations in this gene occur in about 10-15 % of de novo AML cases. These mutations often appear as frameshift alterations in the N-terminal or in-frame insertions/deletions in the C-terminal basic leucine zipper (bZIP) domain. We report a unique CEBPA mutation profile in a 19-year-old male with AML, normal karyotype, and no mutations in FLT3-ITD, NPM1, or cKIT. The patient exhibited a frameshift mutation in the N-terminal region and a novel in-frame duplication in the C-terminal regions of CEBPA, which has not been previously reported in AML. This case emphasizes the importance of genetic profiling in identifying clinically relevant mutation patterns and highlights the potential of genetic insights to inform personalized treatment. It also underscores the need for further studies on the functional implications of unique CEBPA mutations in AML pathogenesis.