Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations

Curr Hematol Malig Rep. 2023 Oct;18(5):121-129. doi: 10.1007/s11899-023-00699-3. Epub 2023 Jun 1.


Purpose of review: CCAAT 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 findings: Due 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.

Keywords: Acute myeloid leukemia; CEBPA; Familial; Germline.

Publication types

  • Review

MeSH terms

  • CCAAT-Enhancer-Binding Proteins / genetics
  • CCAAT-Enhancer-Binding Proteins / metabolism
  • Humans
  • Leukemia, Myeloid, Acute* / diagnosis
  • Leukemia, Myeloid, Acute* / genetics
  • Leukemia, Myeloid, Acute* / therapy
  • Mutation
  • Prognosis


  • CCAAT-Enhancer-Binding Proteins
  • CEBPA protein, human

Supplementary concepts

  • Familial Acute Myeloid Leukemia with Mutated Cebpa