NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214.
NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214.
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使用 DEK-NUP214 在急性髓系白血病病例中涉及 6、7 和 9 号染色体的复杂变异易位中的 NUP214-RAC1 和 RAC1-COL12A1 融合。
DOI：
10.1159/000441464
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发表时间：
2015
影响因子：
1.7
通讯作者：
Emi N.
中科院分区：
文献类型：
--
作者：
Abe A;Yamamoto Y;Iba S;Okamoto A;Tokuda M;Inaguma Y;Yanada M;Morishima S;Kanie T;Tsuzuki M;Akatsuka Y;Mizuta S;Okamoto M;Kameyama T;Mayeda A;Emi N.
急性髓系白血病（AML）患者DEK-NUP 214基因融合与预后不良相关它通常是一个单一的易位，更罕见的是观察到复杂的染色体形式。我们描述了一个复杂的核型异常涉及染色体带6p 23，6 q13，7 p22和9 q34的AML病例。RNA测序分析显示NUP 214的外显子17（9 q34）与RAC 1的外显子2（7 p22）融合。我们还检测到RAC 1内含子1的5′端与COL 12 A1（6 q13）内含子5的反义链融合。RT-PCR分析证实了DEK-NUP 214、NUP 214-RAC 1、RAC 1-COL 12 A1、NUP 214和RAC 1的表达。这些结果表明，NUP 214的5′-和3′-末端分别与RAC 1和DEK融合，RAC 1的5′-末端与COL 12 A1融合。NUP 214的阅读框与RAC 1不匹配，但Western blotting检测到RAC 1蛋白的高表达。本研究鉴定了1例AML患者的NUP 214-RAC 1和RAC 1-COL 12 A1变异复合融合基因。
DEK-NUP214 gene fusion in acute myeloid leukemia (AML) is associated with poor prognosis. It is most often a sole translocation and more rarely observed as complex chromosomal forms. We describe an AML case with complex karyotype abnormalities involving chromosome bands 6p23, 6q13, 7p22, and 9q34. RNA sequencing analysis revealed that exon 17 of NUP214 (9q34) was fused to exon 2 of RAC1 (7p22). We also detected that the 5′-end of intron 1 of RAC1 was fused with the antisense strand of intron 5 of COL12A1 (6q13). RT-PCR analysis confirmed the expression of DEK-NUP214, NUP214-RAC1, RAC1-COL12A1, NUP214, and RAC1. These results suggest that the 5′-and 3′-ends of NUP214 from the breakpoint in the same locus were fused to RAC1 and DEK, respectively, and the 5′-end of RAC1 was fused to COL12A1. The reading frame of NUP214 was not matched with RAC1; however, high expression of the RAC1 protein was detected by Western blotting. This study identifies the variant complex fusion genesNUP214-RAC1 and RAC1-COL12A1 in a case of AML.