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Retroviral insertional mutagenesis identifies the del(5q) genes, CXXC5, TIFAB and ETF1, as well as the Wnt pathway, as potential targets in del(5q) myeloid neoplasms.逆转录病毒插入诱变确定了5号染色体长臂缺失（del(5q)）相关基因CXXC5、TIFAB和ETF1，以及Wnt信号通路，它们是del(5q)骨髓肿瘤的潜在靶点。
Haematologica. 2016 Jun;101(6):e232-6. doi: 10.3324/haematol.2015.139527. Epub 2016 Mar 4.
2
Up-regulation of translation eukaryotic initiation factor 4E in nucleophosmin 1 haploinsufficient cells results in changes in CCAAT enhancer-binding protein α activity: implications in myelodysplastic syndrome and acute myeloid leukemia.核磷蛋白 1 杂合不足细胞中翻译延伸因子 4E 的上调导致 CCAAT 增强子结合蛋白 α 活性的改变：在骨髓增生异常综合征和急性髓系白血病中的意义。
J Biol Chem. 2012 Sep 21;287(39):32728-37. doi: 10.1074/jbc.M112.373274. Epub 2012 Jul 31.
3
The 5q deletion size in myeloid malignancies is correlated to additional chromosomal aberrations and to TP53 mutations.骨髓恶性肿瘤中5号染色体长臂缺失的大小与其他染色体畸变及TP53基因突变相关。
Genes Chromosomes Cancer. 2016 Oct;55(10):777-85. doi: 10.1002/gcc.22377. Epub 2016 Jul 4.
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Evaluation of ETF1/eRF1, mapping to 5q31, as a candidate myeloid tumor suppressor gene.对定位于5q31的ETF1/eRF1作为候选髓系肿瘤抑制基因的评估。
Cancer Genet Cytogenet. 2002 Apr 1;134(1):33-7. doi: 10.1016/s0165-4608(01)00605-7.
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Recurrent genetic defects on chromosome 5q in myeloid neoplasms.髓系肿瘤中5号染色体长臂上的复发性基因缺陷。
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Patients with del(5q) MDS who fail to achieve sustained erythroid or cytogenetic remission after treatment with lenalidomide have an increased risk for clonal evolution and AML progression.接受来那度胺治疗后未能获得持续红细胞或细胞遗传学缓解的 del(5q) MDS 患者，其克隆进化和 AML 进展的风险增加。
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Acute myeloid leukemias with ring sideroblasts show a unique molecular signature straddling secondary acute myeloid leukemia and acute myeloid leukemia.伴有环形铁粒幼细胞的急性髓系白血病表现出一种独特的分子特征，跨越继发性急性髓系白血病和急性髓系白血病。
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Delineation by molecular cytogenetics of 5q deletion breakpoints in myelodyplastic syndromes and acute myeloid leukemia.通过分子细胞遗传学对骨髓增生异常综合征和急性髓系白血病中5q缺失断点的描绘。
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Cytotoxic Therapy-Induced Effects on Both Hematopoietic and Marrow Stromal Cells Promotes Therapy-Related Myeloid Neoplasms.细胞毒治疗对造血细胞和骨髓基质细胞的双重作用促进了治疗相关髓系肿瘤的发生。
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Comparative proteomic analysis of different stages of breast cancer tissues using ultra high performance liquid chromatography tandem mass spectrometer.采用超高效液相色谱串联质谱技术对不同阶段乳腺癌组织的比较蛋白质组学分析。
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Chronic immune response dysregulation in MDS pathogenesis.骨髓增生异常综合征发病机制中的慢性免疫反应失调。
Blood. 2018 Oct 11;132(15):1553-1560. doi: 10.1182/blood-2018-03-784116. Epub 2018 Aug 13.

本文引用的文献

1
Haploinsufficient loss of multiple 5q genes may fine-tune Wnt signaling in del(5q) therapy-related myeloid neoplasms.多个5q基因的单倍体不足缺失可能会微调5号染色体长臂缺失（del(5q)）治疗相关髓系肿瘤中的Wnt信号通路。
Blood. 2015 Dec 24;126(26):2899-901. doi: 10.1182/blood-2015-10-673228. Epub 2015 Nov 13.
2
Loss of Tifab, a del(5q) MDS gene, alters hematopoiesis through derepression of Toll-like receptor-TRAF6 signaling.Tifab（一种5号染色体长臂缺失相关的骨髓增生异常综合征基因）的缺失通过解除Toll样受体-TRAF6信号通路的抑制来改变造血作用。
J Exp Med. 2015 Oct 19;212(11):1967-85. doi: 10.1084/jem.20141898. Epub 2015 Oct 12.
3
Downregulation of the Wnt inhibitor CXXC5 predicts a better prognosis in acute myeloid leukemia.Wnt抑制剂CXXC5的下调预示急性髓系白血病预后较好。
Blood. 2015 May 7;125(19):2985-94. doi: 10.1182/blood-2014-12-613703. Epub 2015 Mar 24.
4
Haploinsufficiency of del(5q) genes, Egr1 and Apc, cooperate with Tp53 loss to induce acute myeloid leukemia in mice.del(5q) 基因、Egr1 和 Apc 的单倍不足与 Tp53 缺失协同作用诱导小鼠急性髓系白血病。
Blood. 2014 Feb 13;123(7):1069-78. doi: 10.1182/blood-2013-07-517953. Epub 2013 Dec 31.
5
Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes.针对 del(5q) 骨髓增生异常综合征中常见的 25 个髓系疾病相关基因突变的靶向重测序分析。
Haematologica. 2013 Dec;98(12):1856-64. doi: 10.3324/haematol.2013.086686. Epub 2013 Jul 5.
6
Clonal diversity of recurrently mutated genes in myelodysplastic syndromes.骨髓增生异常综合征中反复突变基因的克隆多样性。
Leukemia. 2013 Jun;27(6):1275-82. doi: 10.1038/leu.2013.58. Epub 2013 Feb 27.
7
Downregulation but lack of promoter hypermethylation or somatic mutations of the potential tumor suppressor CXXC5 in MDS and AML with deletion 5q.5q缺失的骨髓增生异常综合征和急性髓系白血病中潜在抑癌基因CXXC5的表达下调，但缺乏启动子高甲基化或体细胞突变。
Eur J Haematol. 2013 Mar;90(3):259-60. doi: 10.1111/ejh.12045. Epub 2013 Jan 20.
8
TAPDANCE: an automated tool to identify and annotate transposon insertion CISs and associations between CISs from next generation sequence data.TAPDANCE：一种自动化工具，用于从下一代序列数据中识别和注释转座子插入 CIS 以及 CIS 之间的关联。
BMC Bioinformatics. 2012 Jun 29;13:154. doi: 10.1186/1471-2105-13-154.
9
Revised international prognostic scoring system for myelodysplastic syndromes.修订版国际预后积分系统用于骨髓增生异常综合征。
Blood. 2012 Sep 20;120(12):2454-65. doi: 10.1182/blood-2012-03-420489. Epub 2012 Jun 27.
10
GREAT improves functional interpretation of cis-regulatory regions.GREAT 提高了顺式调控区域的功能解释。
Nat Biotechnol. 2010 May;28(5):495-501. doi: 10.1038/nbt.1630. Epub 2010 May 2.

Retroviral insertional mutagenesis identifies the del(5q) genes, CXXC5, TIFAB and ETF1, as well as the Wnt pathway, as potential targets in del(5q) myeloid neoplasms.

作者信息

Stoddart Angela, Qian Zhijian, Fernald Anthony A, Bergerson Rachel J, Wang Jianghong, Karrison Theodore, Anastasi John, Bartom Elizabeth T, Sarver Aaron L, McNerney Megan E, Largaespada David A, Le Beau Michelle M

机构信息

Department of Medicine, University of Chicago, Chicago, IL, USA

Department of Medicine, and University of Illinois Cancer Center, University of Illinois at Chicago, Chicago, IL, USA.

出版信息

Haematologica. 2016 Jun;101(6):e232-6. doi: 10.3324/haematol.2015.139527. Epub 2016 Mar 4.

DOI:10.3324/haematol.2015.139527
PMID:26944478
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5013937/
Abstract
摘要