New fusion transcripts identified in normal karyotype acute myeloid leukemia.
New fusion transcripts identified in normal karyotype acute myeloid leukemia.
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DOI：
10.1371/journal.pone.0051203
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Wang SM
中科院分区：
文献类型：
--
作者：
Wen H;Li Y;Malek SN;Kim YC;Xu J;Chen P;Xiao F;Huang X;Zhou X;Xuan Z;Mankala S;Hou G;Rowley JD;Zhang MQ;Wang SM
遗传畸变导致急性髓性白血病（AML）。然而，一半的AML病例不包含主要通过细胞遗传学分析可检测到的众所周知的畸变，并且这些病例被归类为正常核型AML。正常核型AML的不同结果表明该AML亚组可能具有遗传异质性。但由于缺乏遗传标记，使得对该亚组AML的进一步研究变得困难。采用配对末端RNAseq技术对45例AML患者进行转录组分析，其中正常核型AML 29例，异常核型AML 8例，无核型信息AML 8例。我们的研究发现了134个融合转录本，它们都是在同一染色体上相邻的伴侣基因之间形成的，并且在AML病例中以不同的频率分布。其中7种融合蛋白仅存在于正常核型AML中，其余融合蛋白在正常核型AML和异常核型AML中共有。CIITA是MHC II类基因表达的主要调节因子，在B细胞淋巴瘤和霍奇金病中被截短，在48%的正常核型AML病例中被发现与DEXI融合。相邻基因间的融合转录本的出现提示了某些融合基因可能参与AML的肿瘤学过程，并为寻找正常核型AML的遗传标记提供了新的来源。
Genetic aberrations contribute to acute myeloid leukemia (AML). However, half of AML cases do not contain the well-known aberrations detectable mostly by cytogenetic analysis, and these cases are classified as normal karyotype AML. Different outcomes of normal karyotype AML suggest that this subgroup of AML could be genetically heterogeneous. But lack of genetic markers makes it difficult to further study this subgroup of AML. Using paired-end RNAseq method, we performed a transcriptome analysis in 45 AML cases including 29 normal karyotype AML, 8 abnormal karyotype AML and 8 AML without karyotype informaiton. Our study identified 134 fusion transcripts, all of which were formed between the partner genes adjacent in the same chromosome and distributed at different frequencies in the AML cases. Seven fusions are exclusively present in normal karyotype AML, and the rest fusions are shared between the normal karyotype AML and abnormal karyotype AML. CIITA, a master regulator of MHC class II gene expression and truncated in B-cell lymphoma and Hodgkin disease, is found to fuse with DEXI in 48% of normal karyotype AML cases. The fusion transcripts formed between adjacent genes highlight the possibility that certain such fusions could be involved in oncological process in AML, and provide a new source to identify genetic markers for normal karyotype AML.
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