title: PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the literature.
abstract: BACKGROUND
  B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is characterized by recurrent genetic alterations including chromosomal translocations. The transcription factor PAX5, which is pivotal for B-cell commitment and maintenance, is affected by rearrangements, which lead to the expression of in-frame fusion genes in about 2.5% of the cases.
  
  
  RESULTS
  Using conventional cytogenetics, fluorescence in situ hybridization (FISH), and molecular methods, an additional case with a der(9)t(7;9)(q11.23;p13) resulting in the expression of a PAX5-ELN fusion gene was identified. Furthermore, a general review of leukemia harboring a t(7;9)(q11.2;p13) or der(9)t(7;9)(q11.2;p13), which occurs more often in children than in adults and shows a remarkably high male preponderance, is given. These cytogenetically highly similar translocations lead to the expression of one of three different in frame PAX5-fusions, namely with AUTS2 (7q11.22), ELN (7q11.23), or POM121 (7q11.23), which constitute the only currently known cluster of PAX5 partner genes.
  
  
  CONCLUSIONS
  Our report underlines the recurrent involvement of PAX5 in different fusion genes resulting either from t(7;9)(q11.2;p13) or der(9)t(7;9)(q11.2;p13), which cannot be distinguished cytogenetically and whose discrimination requires molecular analysis.
authors: Dagmar
authors: D
authors: Denk
authors: Jutta
authors: J
authors: Bradtke
authors: Margit
authors: M
authors: König
authors: CCRI, Children's Cancer Research Institute, St, Anna Kinderkrebsforschung e,V,, Zimmermannplatz 10, 1090 Vienna, Austria. sabine.strehl@ccri.at.
authors: Sabine
authors: S
authors: Strehl