CEBPA Gene

The CEBPA gene localized to chromosome 19q13.11 is an intronless gene encoding a transcription factor containing a basic leucine zipper domain (bZIP) that recognizes the CCAAT motif in the promoters of target genes.

The encoded protein is present in both homodimers and heterodimers with the CCAAT/enhancer-binding proteins beta and gamma. The activity of this protein can modulate the expression of genes involved in cell cycle regulation and body weight homeostasis.

A mutation of this gene is associated with acute myeloid leukemia. Patients with isolated CEPA mutations (expression of a normal karyotype) are listed by Europea LeukemiaNet as a low-risk group with a favorable prognosis. It is recommended to test for it in patients with AML. However, NPM1 and FLT3 mutations should also be investigated in CN-AML patients, as concurrent mutations may have prognostic implications.

Diseases associated with CEBPA include acute myeloid leukemia and acute lymphoblastic leukemia with T(8;21)(Q22;Q22) translocation.

1. Dufour A et al. (2010) Acute myeloid leukemia with biallelic CEBPA gene mutations and normal karyotype represents a distinct genetic entity associated with a favorable clinical outcome. J Clin Oncol 28:570-577.
2. Konstandin NP et al (2018) Genetic heterogeneity of cytogenetically normal AML with mutations of CEBPA. Blood Adv 2: 2724-2731.
3. Mendoza H et al (2021) Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia. Int J Lab Hematol 43 Suppl 1:86-95.