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[共济失调毛细血管扩张症突变基因与慢性淋巴细胞白血病——综述]

[Gene atm and chronic lymphocytic leukemia - review].

作者信息

Zhu Dan-Xia, Xu Wei, Li Jian-Yong

机构信息

Department of Hematology, The First Hospital, Nanjing Medical University, Jiangsu Province, China.

出版信息

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2008 Oct;16(5):1242-6.

PMID:18928637
Abstract

The ataxia telangiectasia mutated gene (atm) is a tumor-suppressing gene, locates in the human chromosome 11q22-23. This gene mainly participates in recognition and repairment of DNA damage and plays a critical role in signal transduction pathway induced by double strand breaks (DSB). In chronic lymphocytic leukemia (CLL) there is high frequency of loss of heterozygosity (LOH) and mutation of atm gene, which related to pathopoiesis and progression of CLL. This article reviewed the progress of recent studies on the characteristics and mechanism of atm gene, as well as its role in the pathogenesis of CLL.

摘要

共济失调毛细血管扩张症突变基因(atm)是一种肿瘤抑制基因,位于人类染色体11q22 - 23。该基因主要参与DNA损伤的识别与修复,在双链断裂(DSB)诱导的信号转导通路中起关键作用。在慢性淋巴细胞白血病(CLL)中,atm基因杂合性缺失(LOH)和突变的频率较高,这与CLL的发病机制和进展相关。本文综述了近年来关于atm基因的特征、机制及其在CLL发病机制中的作用的研究进展。

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1
[Gene atm and chronic lymphocytic leukemia - review].[共济失调毛细血管扩张症突变基因与慢性淋巴细胞白血病——综述]
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2008 Oct;16(5):1242-6.
2
Extreme telomere erosion in ATM-mutated and 11q-deleted CLL patients is independent of disease stage.ATM基因发生突变以及11号染色体长臂缺失的慢性淋巴细胞白血病(CLL)患者的端粒严重缩短与疾病分期无关。
Leukemia. 2012 Apr;26(4):826-30. doi: 10.1038/leu.2011.281. Epub 2011 Oct 11.
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Deficiency of the ATM protein expression defines an aggressive subgroup of B-cell chronic lymphocytic leukemia.ATM蛋白表达缺陷定义了B细胞慢性淋巴细胞白血病的一个侵袭性亚组。
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ATM mutations in B-cell chronic lymphocytic leukemia.B 细胞慢性淋巴细胞白血病中的 ATM 突变
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Presence of heterozygous ATM deletion may not be critical in the primary response of chronic lymphocytic leukemia cells to fludarabine.杂合性 ATM 缺失的存在可能在慢性淋巴细胞白血病细胞对氟达拉滨的初始反应中并非关键因素。
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Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion.残留 ATM 等位基因的突变状态是慢性淋巴细胞白血病伴 11q 缺失患者细胞对化疗反应及生存情况的重要决定因素。
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ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.ATM 种系杂合性在慢性淋巴细胞白血病的起始中不起作用,但通过丧失剩余的 ATM 等位基因影响疾病的快速进展。
Haematologica. 2012 Jan;97(1):142-6. doi: 10.3324/haematol.2011.048827. Epub 2011 Sep 20.