Incidence and diversity of PAX5 fusion genes in childhood acute lymphoblastic leukemia

Leukemia. 2009 Jan;23(1):134-43. doi: 10.1038/leu.2008.306. Epub 2008 Nov 20.


PAX5, a master regulator of B-cell development, was recently shown to be involved in several leukemia-associated rearrangements, which result in fusion genes encoding chimeric proteins that antagonize PAX5 transcriptional activity. In a population-based fluorescence in situ hybridization screening study of 446 childhood acute lymphoblastic leukemia (ALL) patients, we now show that PAX5 rearrangements occur at an incidence of about 2.5% of B-cell precursor ALL. Identification of several novel PAX5 partner genes, including POM121, BRD1, DACH1, HIPK1 and JAK2 brings the number of distinct PAX5 in-frame fusions to at least 12. Our data show that these not only comprise transcription factors but also structural proteins and genes involved in signal transduction, which at least in part have not been implicated in tumorigenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Humans
  • Infant
  • Oncogene Proteins, Fusion / genetics*
  • PAX5 Transcription Factor / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Signal Transduction / genetics
  • Transcription Factors / genetics
  • Transcription, Genetic
  • Young Adult


  • Oncogene Proteins, Fusion
  • PAX5 Transcription Factor
  • PAX5 protein, human
  • Transcription Factors