Determination of CEBPA mutations by next generation sequencing in pediatric acute leukemia

Bratisl Lek Listy. 2018;119(6):366-372. doi: 10.4149/BLL_2018_068.


Objectives: The CCAAT/enhancer-binding protein-alpha (CEBPA) is lineage-specific transcription factor in the hematopoietic system. In this study, we aimed on the clinical features and the prognostic significance associated with CEBPA mutations in 30 pediatric patients with acute leukemia.

Methods: In addition, the association between found variants and mutations of Ten-Eleven-Translocation 2 (TET2), Kirsten rat sarcoma viral oncogene homolog (KRAS), and Casitas B-cell lymphoma (CBL), FLT3 (Fms-Related Tyrosine Kinase), JAK2 (Januse Kinase-2) and Nucleophosmin 1 (NPM1) were analyzed, which are important prognostic risk factors for pediatric acute leukemia patients. The entire CEBPA coding region was screened using the NGS method.

Results: CEBPA mutations were detected in 16 (53.3 %) of 30 patients. In total, ten distinct of nucleotide changes were identified in 30 patients, including 6 novel and 4 known mutations by sequencing the entire CEBPA gene. We found 6 frame shift mutations, 1 missense mutation, 3 synonymous variants. The most common mutation was the c.487del G resulting p.Glu163Ser in 5 cases. Three patients carried CEBPA double mutations.

Conclusion: The detected variants in this article seemed to be the first screening results of genes studied by NGS in pediatric acute leukemia patients. Our results also showed some degree of association between FLT3-ITD, TET2, KRAS, CBL and CEBPA mutations (Tab. 4, Fig. 1, Ref. 24).

Keywords: CEBPA; molecular marker mutation.; next generation sequencing; pediatric acute leukemia.

MeSH terms

  • Acute Disease
  • CCAAT-Enhancer-Binding Proteins / genetics*
  • Child
  • DNA Mutational Analysis*
  • Female
  • Humans
  • Leukemia / genetics*
  • Male
  • Nucleophosmin
  • Prognosis
  • Sequence Analysis, DNA*


  • CCAAT-Enhancer-Binding Proteins
  • CEBPA protein, human
  • NPM1 protein, human
  • Npm1 protein, rat
  • Nucleophosmin