Identification of a novel fusion gene in a pre-B acute lymphoblastic leukemia with t(1;19)(q23;p13)

Cancer Sci. 2004 Jun;95(6):503-7. doi: 10.1111/j.1349-7006.2004.tb03240.x.


The most common nonrandom translocation found among childhood pre-B acute lymphoblastic leukemias (ALL) is t(1;19)(q23;p13), which frequently results in fusion of E2A with PBX1. However, rare cases of childhood ALL and various other hematological diseases with t(1;19) lack the E2A-PBX1 fusion. Analyzing a cell line with pre-B-cell phenotype, TS-2, that carries t(1;19)(q23;p13) but lacks the E2A-PBX1 fusion, we successfully cloned the breakpoints, which fell within introns of MEF2D and DAZAP1. Both chimeric transcripts, MEF2D-DAZAP1 and DAZAP1-MEF2D, whose sequences indicated in-frame fusions between MEF2D and DAZAP1, were expressed in TS-2 cells and in bone-marrow cells of the patient from whom the TS-2 was established. MEF2D-DAZAP1 and DAZAP1-MEF2D proteins were both located in the nucleus, and MEF2D-DAZAP1 was able to form dimers with MEF2D and HDAC4. In addition, exogenous expression of MEF2D-DAZAP1 and DAZAP1-MEF2D promoted the growth of HeLa cells. Given the frequency of t(1;19) without the E2A-PBX1 fusion in hematological malignancies, we suggest that MEF2D / DAZAP1 rearrangements might be involved in the pathogenesis of those diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 19*
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • MADS Domain Proteins
  • MEF2 Transcription Factors
  • Myogenic Regulatory Factors
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • RNA-Binding Proteins / genetics*
  • Recombinant Fusion Proteins / genetics*
  • Transcription Factors / genetics*
  • Translocation, Genetic*


  • DAZAP1 protein, human
  • DNA-Binding Proteins
  • MADS Domain Proteins
  • MEF2 Transcription Factors
  • MEF2D protein, human
  • Myogenic Regulatory Factors
  • RNA-Binding Proteins
  • Recombinant Fusion Proteins
  • Transcription Factors