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

被引:154
作者
Nebral, K. [1 ]
Denk, D. [1 ]
Attarbaschi, A. [2 ]
Koenig, M. [1 ]
Mann, G. [2 ]
Haas, O. A. [2 ]
Strehl, S. [1 ]
机构
[1] Childrens Canc Res Inst, St Anna Kinderkrebsforsch, A-1090 Vienna, Austria
[2] St Anna Childrens Hosp, Dept Pediat Hematol & Oncol, A-1090 Vienna, Austria
关键词
PAX5; rearrangements; fusion genes; FISH screening; B-cell precursor acute lymphoblastic leukemia; HOMEODOMAIN-INTERACTING PROTEIN-KINASE-1; NUCLEAR-PORE COMPLEX; ACUTE MYELOID-LEUKEMIA; B-CELL DEVELOPMENT; TRANSCRIPTIONAL CONTROL; DROSOPHILA-DACHSHUND; BINDING MODULES; EYE DEVELOPMENT; TRANSLOCATION; EXPRESSION;
D O I
10.1038/leu.2008.306
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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 inframe 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.
引用
收藏
页码:134 / 143
页数:10
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