PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia

Leuk Res. 2012 Aug;36(8):e178-81. doi: 10.1016/j.leukres.2012.04.015. Epub 2012 May 12.


PAX5 rearrangements resulting in the expression of fusion transcripts account for 2-3% of childhood B-cell precursor acute lymphoblastic leukemia. Most PAX5 fusions are rare and many of them have only been described in a couple of, or even only in single, cases. We have identified the third case with a PAX5-AUTS2 fusion, which results from unbalanced t(7;9)(q11.2;p13.2) rearrangements. Our findings substantiate that PAX5-AUTS2 is a recurrent fusion gene in pediatric B-cell precursor acute lymphoblastic leukemia, and we summarize the clinical characteristics of such patients.

Publication types

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

MeSH terms

  • Age of Onset
  • Base Sequence
  • Chromosomes, Human, Pair 7 / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Gene Frequency
  • Humans
  • Infant
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / epidemiology
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Translocation, Genetic / genetics


  • Oncogene Proteins, Fusion
  • PAX5-AUTS2 fusion protein, human