PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the literature

Molecular Cytogenetics

Sabine Strehl¹  Margit König¹  Jutta Bradtke²  Dagmar Denk¹ 

[1] CCRI, Children’s Cancer Research Institute, St. Anna Kinderkrebsforschung e.V., Zimmermannplatz 10, 1090 Vienna, Austria;Universitätsklinikum Gießen und Marburg, Institut für Pathologie, Onkogenetisches Labor Molekularpathologie, Langhansstrasse 10, 35392 Gießen, Germany

关键词: POM121;    AUTS2;    ELN;    PAX5-fusions;    p13);    9)(q11.2;    der(9)t(7;    p13);    9)(q11.2;    t(7;    B-cell precursor acute lymphoblastic leukemia;   

Others  :  1150366
DOI  :  10.1186/1755-8166-7-13

 received in 2013-12-02, accepted in 2014-01-29,  发布年份 2014

【 摘 要 】

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.

Conclusion

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.

【 授权许可】

   
2014 Denk et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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