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M2型急性髓系白血病的转录组研究

The Transcriptome Study of Subtype M2 Acute Myeloblastic Leukemia.

作者信息

Wu A-Yang, Yang Hui-Cong, Lin Cong-Meng, Wu Bi-de, Qu Qi-Shui, Zheng Yuan-Hai, Wei Hua, Mei Xu-Qiao, Zeng Zhen-Hua, Ma Xu-Dong

机构信息

Zhangzhou Affiliated Hospital of Fujian Medical University, Zhangzhou, 363000, Fujian, People's Republic of China.

Xiamen University, Xiamen, Fujian, People's Republic of China.

出版信息

Cell Biochem Biophys. 2015 Jul;72(3):653-6. doi: 10.1007/s12013-014-0432-4.

Abstract

Our objective is to explore the tumor-specific mutated genes by transcriptome sequencing of patients with acute myeloblastic leukemia. 96 patients with subtype M2 acute myeloid leukemia (AML), admitted during January 2007 to January 2012, were selected. Bone marrow and peripheral blood samples from the patients after the first visit and the patients who were improved or alleviated, were subjected to high-throughput sequencing to compare the gene expression. The single nucleotide mutation related to subtype M2 AML was detected. Meanwhile, real-time fluorescent quantitation RT-PCR was used to detect the AML1/ETO fusion gene and its correlation with prognosis after treatment. Among 96 patients, AML1-ETO fusion gene was positive in 52 cases, the positive rate was 54.17 %. The complete relief (CR) rate of AML1-ETO fusion gene positive patients was 84.62 %, and the CR rate of AML1/ETO fusion gene negative patients was 77.27 %; the CR rate of AML1-ETO positive patients was higher than that of patients without the fusion gene, however there was no statistical difference. In the analysis of recurrent gene mutation in AML-M2 patients, IDH2, ASXL1, TET2, JAK1 and JAK2 gene expressions were not significantly different before treatment and after CR, however, IDHI, JAK3, ABL1 and BCR gene expressions were significantly different. In the study of transcriptome in AML-M2 patients, high-throughput sequencing could effectively detect the difference of the gene expression before treatment and after CR. Furthermore, positive expression of AML1-ETO fusion gene had effect on the prognosis of patients.

摘要

我们的目的是通过对急性髓性白血病患者进行转录组测序来探索肿瘤特异性突变基因。选取了2007年1月至2012年1月期间收治的96例M2型急性髓性白血病(AML)患者。对初诊患者以及病情好转或缓解患者的骨髓和外周血样本进行高通量测序以比较基因表达。检测到与M2型AML相关的单核苷酸突变。同时,采用实时荧光定量RT-PCR检测AML1/ETO融合基因及其与治疗后预后的相关性。96例患者中,AML1-ETO融合基因阳性者52例,阳性率为54.17%。AML1-ETO融合基因阳性患者的完全缓解(CR)率为84.62%,AML1/ETO融合基因阴性患者的CR率为77.27%;AML1-ETO阳性患者的CR率高于无融合基因患者,但差异无统计学意义。在AML-M2患者复发基因突变分析中,IDH2、ASXL1、TET2、JAK1和JAK2基因治疗前与CR后表达无明显差异,而IDHI、JAK3、ABL1和BCR基因表达有明显差异。在AML-M2患者转录组研究中,高通量测序能有效检测治疗前与CR后基因表达差异。此外,AML1-ETO融合基因阳性表达对患者预后有影响。

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