Incidence and diversity of PAX5 fusion genes in childhood acute lymphoblastic leukemia
Incidence and diversity of PAX5 fusion genes in childhood acute lymphoblastic leukemia
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DOI：
10.1038/leu.2008.306
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发表时间：
2009-01-01
期刊：
影响因子：
11.4
通讯作者：
Strehl, S.
中科院分区：
文献类型：
--
作者：
Nebral, K.;Denk, D.;Strehl, S.
Pax5是B细胞发育的主要调节者，最近被证明参与了几种与白血病相关的重排，这些重排导致融合基因编码嵌合蛋白，从而拮抗PAX5的转录活性。在对446例儿童急性淋巴细胞白血病(ALL)患者进行的人群荧光原位杂交筛查研究中，我们发现PAX5重排发生的发生率约为B细胞前体ALL的2.5%。几个新的PAX5配对基因，包括POM121、BRD1、DACH1、HIPK1和JAK2，使不同的PAX5基础融合的数量至少达到12个。我们的数据表明，这些融合不仅包括转录因子，而且还包括结构蛋白和参与信号转导的基因，至少部分与肿瘤的发生无关。
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.