• What is CEBPA?
  • CEBPA in Acute Myeloid Leukemia
  • CEBPA Biallelic Mutation
  • Clinical Trials


CCAAT/enhancer binding protein, alpha (CEBPA) is a gene that encodes a protein that functions as a transcription factor that contains a leucine zipper and identifies CCAAT motifs in the promoter regions of gene targets. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as hematopoietic and lymphoid cancers, cervical cancer, and intestinal cancer.

Last Updated: March 30, 2018

CEBPA in Acute Myeloid Leukemia

CEBPA mutations are observed in 8–19% of patients diagnosed with AML (Benthaus et al. 2008; Bienz et al. 2005; Forhling et al. 2004; Pabst et al. 2001; Schlenk et al. 2008). "AML with CEBPA biallelic mutation" is recognized as a separate entity under the 2016 World Health Organization (WHO) classification (Arber et al. 2016) and confers a favorable prognosis in absence of concurrent FLT3-ITD mutations. CEBPA mutations fall into class II of the “two-hit” theory of leukemogenesis.​

Last Updated: March 30, 2018

CEBPA Biallelic Mutation in Acute Myeloid Leukemia

Location of mutation Chromosome 19, q13.1
Frequency of CEBPA mutations in AML 8–19% (Benthaus et al. 2008; Bienz et al. 2005; Forhling et al. 2004; Pabst et al. 2001; Schlenk et al. 2008)
Frequency of biallelic CEBPA mutations in CEBPA-mutated AML 52–55% (Dofour et al. 2010; Green et al. 2010)
Implications for Targeted Therapeutics
Response to FLT3 inhibitors Unknown at this time
Response to MEK inhibitors Unknown at this time
Response to JAK2 inhibitors Unknown at this timea
Response to DOT1L inhibitors Unknown at this time

CEBPA biallelic mutations, which are defined by the presence of a mutation on both the alleles of the CEBPA gene, are generally associated with a favorable clinical outcome (Barjesteh et al. 2003; Dofour et al. 2010; Forhling et al. 2004; Preudhomme et al. 2002) and lead to improved overall survival compared to single CEBPA mutation and wild-type allele (Green et al. 2010; Li et al. 2015). CEBPA mutations have been broadly divided into two categories: N-terminal frameshift mutations and C-terminal in-frame mutations. The frameshift mutation at the N-terminus results in aborted translation of the full-length p42 CEBPA protein, while leading the translation of the shorter p30 isoform which hinders the function of the p42 protein (Pabst et al. 2001). The C-terminus mutations involve in-frame insertions/deletions in the basic leucine zipper region (bZIP) domain. This leads to proteins with impaired homodimerization and heterodimerization domains and results in impaired DNA binding (Asou et al. 2003; Gombart et al. 2002).

a A recent preclinical study showed that patients with CEBPA biallelic mutations were sensitive to treatment with ruxolitinib, a JAK2 inhibitor (Lavallee et al. 2016).​

Last Updated: March 30, 2018

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