CEBPA polymorphisms and mutations in patients with acute myeloid leukemia, myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma

Blood Cells Mol Dis. 2008 May-Jun;40(3):401-5. doi: 10.1016/j.bcmd.2007.11.005. Epub 2008 Jan 8.


The transcription factor CCAAT/enhancer binding protein (C/EBP)alpha is a myeloid-specific transcription factor which is required for normal myeloid differentiation. C/EBPalpha is encoded by an intronless gene that is 2783 bp long and maps to human chromosome 19q13.1. C/EBPalpha is a member of the basic region leucine zipper (bZIP) class of DNA-binding proteins. The loss of function of C/EBPalpha has leukemogenic potential. Four types of polymorphisms and 25 mutations (3 already known mutations and 22 novel mutations) were detected in CEBPA (gene for the transcription factor CCAAT/enhancer binding protein (C/EBP) alpha) in analysed samples from 390 patients with myelodysplastic syndrome (MDS) and hematologic malignancies. CEBPA mutations were found in 14/152 (9.2%) of acute myeloid leukemia (AML) patients' samples, 6/143 (4.2%) of MDS patients' samples, 2/56 (3.6%) of non-Hodgkin's lymphoma (NHL) patients' samples and 2/39 (5.1%) of multiple myeloma (MM) patients' samples. No C/EBPalpha mutations were detected in healthy donors (41 individuals). We discuss how these mutations can affect the cellular function of C/EBPalpha and block the myeloid differentiation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Sequence
  • CCAAT-Enhancer-Binding Proteins / chemistry
  • CCAAT-Enhancer-Binding Proteins / genetics*
  • Female
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Lymphoma, Non-Hodgkin / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Multiple Myeloma / genetics*
  • Mutation*
  • Myelodysplastic Syndromes / genetics*
  • Polymorphism, Genetic*


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