Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations

Purpose of ReviewCCAAT enhancer binding protein A (CEBPA) gene mutation is one of the common genetic alterations in acute myeloid leukemia (AML), which can be associated with sporadic and familial AML.Recent FindingsDue to the recent advances in molecular testing and the prognostic role of CEBPA mutation in AML, the definition for AML with CEBPA mutation (AML-CEBPA) has significantly changed. This review provides the rationale for the updates on classifications, and the impacts on laboratory evaluation and clinical management for sporadic and familial AML-CEBPA patients. In addition, minimal residual disease assessment post therapy to stratify disease risk and stem cell transplant in selected AML-CEBPA patients are discussed.Taken together, the recent progresses have shifted the definition, identification, and management of patients with AML-CEBPA.

Automated summary

CEBPA gene mutation is a common genetic alteration in acute myeloid leukemia (AML), which can be associated with sporadic and familial AML. Recent advances in molecular testing and the prognostic role of CEBPA mutation have significantly changed the definition of AML-CEBPA. This review discusses the impact on laboratory evaluation and clinical management for sporadic and familial AML-CEBPA patients, as well as the assessment of minimal residual disease and stem cell transplant in selected AML-CEBPA patients.