Novel ZEB2-BCL11B Fusion Gene Identified by RNA-Sequencing in Acute Myeloid Leukemia with t(2;14)(q22;q32)

PLoS One. 2015 Jul 17;10(7):e0132736. doi: 10.1371/journal.pone.0132736. eCollection 2015.


RNA-sequencing of a case of acute myeloid leukemia with the bone marrow karyotype 46,XY,t(2;14)(q22;q32)[5]/47,XY,idem,+?4,del(6)(q13q21)[cp6]/46,XY[4] showed that the t(2;14) generated a ZEB2-BCL11B chimera in which exon 2 of ZEB2 (nucleotide 595 in the sequence with accession number NM_014795.3) was fused to exon 2 of BCL11B (nucleotide 554 in the sequence with accession number NM_022898.2). RT-PCR together with Sanger sequencing verified the presence of the above-mentioned fusion transcript. All functional domains of BCL11B are retained in the chimeric protein. Abnormal expression of BCL11B coding regions subjected to control by the ZEB2 promoter seems to be the leukemogenic mechanism behind the translocation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Chromosome Aberrations
  • Chromosome Banding
  • Chromosomes, Human, Pair 14 / genetics*
  • Chromosomes, Human, Pair 2 / genetics*
  • Fatal Outcome
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Molecular Sequence Data
  • Mutant Chimeric Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Real-Time Polymerase Chain Reaction
  • Reproducibility of Results
  • Sequence Analysis, RNA*
  • Translocation, Genetic*


  • Mutant Chimeric Proteins
  • Oncogene Proteins, Fusion
  • ZEB2-BCL11B fusion protein, human

Grant support

This work was supported by grants from the Norwegian Cancer Society and the Norwegian Radium Hospital Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.