Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12)
Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12)
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DOI：
10.1111/j.1365-2141.2006.06410.x
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发表时间：
2007-01
影响因子：
6.5
通讯作者：
I. Panagopoulos;G. Kerndrup;N. Carlsen;B. Strömbeck;M. Isaksson;B. Johansson
中科院分区：
文献类型：
--
作者：
I. Panagopoulos;G. Kerndrup;N. Carlsen;B. Strömbeck;M. Isaksson;B. Johansson
之前在T细胞急性淋巴细胞白血病（T-ALL）中报道了三种NUP 98嵌合体：NUP 98/ADD 3，NUP 98/CCDC 28 A和NUP 98/RAP 1GDS 1。我们报告了一例T‐ALL伴t（11;18）（p15;q12），导致新的NUP 98融合。荧光原位杂交显示NUP 98和SET结合蛋白1（SETBP 1）融合信号;其他分析显示NUP 98的外显子12与SETBP 1的外显子5框内融合。巢式聚合酶链反应没有扩增出相互的SETBP 1/NUP 98，这表明NUP 98/SETBP 1转录本在致病上是重要的。SETBP 1以前没有涉及白血病;然而，它编码一种与SET特异性相互作用的蛋白质，在急性未分化白血病的情况下与NUP 214融合。
Three NUP98 chimaeras have previously been reported in T cell acute lymphoblastic leukaemia (T‐ALL): NUP98/ADD3, NUP98/CCDC28A, and NUP98/RAP1GDS1. We report a T‐ALL with t(11;18)(p15;q12) resulting in a novel NUP98 fusion. Fluorescent in situ hybridisation showed NUP98 and SET binding protein 1(SETBP1) fusion signals; other analyses showed that exon 12 of NUP98 was fused in‐frame with exon 5 of SETBP1. Nested polymerase chain reaction did not amplify the reciprocal SETBP1/NUP98, suggesting that NUP98/SETBP1 transcript is pathogenetically important. SETBP1 has previously not been implicated in leukaemias; however, it encodes a protein that specifically interacts with SET, fused to NUP214 in a case of acute undifferentiated leukaemia.