A Review of CEBPA's Role in Hereditary Leukemia

Advances in genetic testing have allowed for extensive testing and identification of previously unrecognized inherited conditions; a prominent area of this research includes familial patterns of acute myeloid leukemia (AML). Recognition of familial related hematologic malignancies can have lasting implications for both patients and their treatment plans, as well as their families.

This review summarizes the specific familial AML disease, CCAAT/enhancer binding protein-alpha (CEBPA) associated AML.

We highlight CEBPA's function, pathogenesis, and potential treatment considerations after identification of the pathogenic or likely pathogenic (P/LP) germline mutations in cases of AML. Discussion of testing and screening for affected family members is also reviewed.

Identification of CEBPA familial AML is necessary for appropriate treatment planning and has additional implications for familial testing and screening. Clinical practice is still evolving treatment paradigms for these patients and their families. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.