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mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia.突变及其对临床结局的影响：对1604例新诊断急性髓系白血病患者的分析
Haematologica. 2020 May;105(5):e228-e231. doi: 10.3324/haematol.2019.222323. Epub 2019 Aug 14.
2
Integrative study of EZH2 mutational status, copy number, protein expression and H3K27 trimethylation in AML/MDS patients.EZH2 基因突变状态、拷贝数、蛋白表达与 AML/MDS 患者 H3K27 三甲基化的综合研究。
Clin Epigenetics. 2021 Apr 12;13(1):77. doi: 10.1186/s13148-021-01052-2.
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EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis.一名患有韦弗综合征的青少年发生急性髓系白血病并继发噬血细胞性淋巴组织细胞增生症，其EZH2基因发生突变。
Am J Med Genet A. 2016 May;170A(5):1274-7. doi: 10.1002/ajmg.a.37562. Epub 2016 Jan 14.
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EZH2 dysregulation: Potential biomarkers predicting prognosis and guiding treatment choice in acute myeloid leukaemia.EZH2 失调：预测急性髓系白血病预后和指导治疗选择的潜在生物标志物。
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Clinical Significance of EZH2 in Acute Myeloid Leukemia.EZH2 在急性髓系白血病中的临床意义。
Comput Intell Neurosci. 2022 Aug 23;2022:8741989. doi: 10.1155/2022/8741989. eCollection 2022.
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Clonal shifts in MDS - from SF3B1 to EZH2.骨髓增生异常综合征中的克隆性转变——从剪接因子3B亚基1到EZH2
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Loss-of-function mutations in the histone methyltransferase EZH2 promote chemotherapy resistance in AML.组蛋白甲基转移酶 EZH2 的功能丧失突变可促进 AML 对化疗的耐药性。
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Cell adhesion-induced phosphorylation and inactivation of EZH2 confer drug resistance to acute myeloid leukemia cells.细胞黏附诱导的EZH2磷酸化和失活赋予急性髓性白血病细胞耐药性。
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Alternative splicing redefines landscape of commonly mutated genes in acute myeloid leukemia.剪接变异重新定义了急性髓系白血病中常见突变基因的图谱。
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GMP-like and MLP-like Subpopulations of Hematopoietic Stem and Progenitor Cells Harboring Mutated and at Diagnosis Promote Acute Myeloid Leukemia Relapse: Data of Combined Molecular, Functional, and Genomic Single-Stem-Cell Analyses.携带突变且在诊断时具有GMP样和MLP样亚群的造血干细胞和祖细胞会促进急性髓系白血病复发：联合分子、功能和基因组单干细胞分析的数据
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EZH2 mutation is associated with the development of visceral metastasis by enhancing proliferation and invasion and inhibiting apoptosis in breast cancer cells.EZH2 突变通过增强乳腺癌细胞的增殖、侵袭和抑制凋亡，与内脏转移的发展相关。
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Precision Medicine Approaches in Acute Myeloid Leukemia with Adverse Genetics.针对具有不良遗传学特征的急性髓系白血病的精准医学方法。
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The epigenetic landscape in intestinal stem cells and its deregulation in colorectal cancer.肠干细胞中的表观遗传学景观及其在结直肠癌中的失调。
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Performance of the cobas EZH2 mutation test on clinical samples from non-Hodgkin lymphoma patients.cobas EZH2 突变检测在非霍奇金淋巴瘤患者临床样本中的性能。
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Understanding blood development and leukemia using sequencing-based technologies and human cell systems.利用基于测序的技术和人类细胞系统来理解血液发育和白血病。
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YY1 Knockdown Relieves the Differentiation Block and Restores Apoptosis in AML Cells.YY1基因敲低可缓解AML细胞的分化阻滞并恢复其凋亡。
Cancers (Basel). 2023 Aug 7;15(15):4010. doi: 10.3390/cancers15154010.
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UBTF tandem duplications are rare but recurrent alterations in adult AML and associated with younger age, myelodysplasia, and inferior outcome.UBTF 串联重复是成人 AML 中罕见但反复出现的改变，与年龄较小、骨髓增生异常和预后不良相关。
Blood Cancer J. 2023 May 26;13(1):88. doi: 10.1038/s41408-023-00858-y.
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Stage-specific dual function: EZH2 regulates human erythropoiesis by eliciting histone and non-histone methylation.阶段特异性双重功能：EZH2 通过引发组蛋白和非组蛋白甲基化来调节人类红细胞生成。
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本文引用的文献

1
Turbulence Activates Platelet Biogenesis to Enable Clinical Scale Ex Vivo Production.湍流激活血小板生成以实现临床规模的体外生产。
Cell. 2018 Jul 26;174(3):636-648.e18. doi: 10.1016/j.cell.2018.06.011. Epub 2018 Jul 12.
2
Small Molecule Supplements Improve Cultured Megakaryocyte Polyploidization by Modulating Multiple Cell Cycle Regulators.小分子补充剂通过调节多个细胞周期调控因子改善培养巨核细胞的多倍体化。
Biomed Res Int. 2017;2017:2320519. doi: 10.1155/2017/2320519. Epub 2017 Oct 19.
3
Evidence for a role of TRIB3 in the regulation of megakaryocytopoiesis.TRIB3 在巨核细胞生成中的调节作用的证据。
Sci Rep. 2017 Jul 27;7(1):6684. doi: 10.1038/s41598-017-07096-w.
4
Selective Inhibition of ADAM17 Efficiently Mediates Glycoprotein Ibα Retention During Ex Vivo Generation of Human Induced Pluripotent Stem Cell-Derived Platelets.选择性抑制 ADAM17 在人诱导多能干细胞衍生血小板的体外生成过程中有效介导糖蛋白 Ibα 的保留。
Stem Cells Transl Med. 2017 Mar;6(3):720-730. doi: 10.5966/sctm.2016-0104. Epub 2016 Oct 5.
5
The gene expression signature of anagrelide provides an insight into its mechanism of action and uncovers new regulators of megakaryopoiesis.阿那格雷的基因表达特征为其作用机制提供了深入了解，并揭示了巨核细胞生成的新调节因子。
J Thromb Haemost. 2015 Jun;13(6):1103-12. doi: 10.1111/jth.12959. Epub 2015 May 9.
6
Expandable megakaryocyte cell lines enable clinically applicable generation of platelets from human induced pluripotent stem cells.可膨胀巨核细胞系使人类诱导多能干细胞生成血小板的临床应用成为可能。
Cell Stem Cell. 2014 Apr 3;14(4):535-48. doi: 10.1016/j.stem.2014.01.011. Epub 2014 Feb 13.
7
Anagrelide compared with hydroxyurea in WHO-classified essential thrombocythemia: the ANAHYDRET Study, a randomized controlled trial.在世界卫生组织分类的原发性血小板增多症中，比较阿那格雷与羟基脲：ANAHYDRET 研究，一项随机对照试验。
Blood. 2013 Mar 7;121(10):1720-8. doi: 10.1182/blood-2012-07-443770. Epub 2013 Jan 11.
8
Proposed megakaryocytic regulon of p53: the genes engaged to control cell cycle and apoptosis during megakaryocytic differentiation.p53 调控的巨核细胞调节因子：在巨核细胞分化过程中参与控制细胞周期和凋亡的基因。
Physiol Genomics. 2012 Jun 15;44(12):638-50. doi: 10.1152/physiolgenomics.00028.2012. Epub 2012 May 1.
9
Role of tumor suppressor p53 in megakaryopoiesis and platelet function.肿瘤抑制因子 p53 在巨核细胞生成和血小板功能中的作用。
Exp Hematol. 2012 Feb;40(2):131-42.e4. doi: 10.1016/j.exphem.2011.10.006. Epub 2011 Oct 21.
10
Transient activation of c-MYC expression is critical for efficient platelet generation from human induced pluripotent stem cells.瞬时激活 c-MYC 表达对于从人诱导多能干细胞中有效生成血小板至关重要。
J Exp Med. 2010 Dec 20;207(13):2817-30. doi: 10.1084/jem.20100844. Epub 2010 Nov 22.

mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia.

作者信息

Stasik Sebastian, Middeke Jan M, Kramer Michael, Röllig Christoph, Krämer Alwin, Scholl Sebastian, Hochhaus Andreas, Crysandt Martina, Brümmendorf Tim H, Naumann Ralph, Steffen Björn, Kunzmann Volker, Einsele Hermann, Schaich Markus, Burchert Andreas, Neubauer Andreas, Schäfer-Eckart Kerstin, Schliemann Christoph, Krause Stefan, Herbst Regina, Hänel Mathias, Frickhofen Norbert, Noppeney Richard, Kaiser Ulrich, Baldus Claudia D, Kaufmann Martin, Rácil Zdenek, Platzbecker Uwe, Berdel Wolfgang E, Mayer Jiri, Serve Hubert, Müller-Tidow Carsten, Ehninger Gerhard, Bornhäuser Martin, Schetelig Johannes, Thiede Christian

机构信息

Universitätsklinikum Carl Gustav Carus, Medizinische Klinik und Poliklinik I, Dresden, Germany.

Universitätsklinikum Heidelberg, Medizinische Klinik V, Heidelberg, Germany.

出版信息

Haematologica. 2020 May;105(5):e228-e231. doi: 10.3324/haematol.2019.222323. Epub 2019 Aug 14.

DOI:10.3324/haematol.2019.222323
PMID:31413097
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7193486/
Abstract
摘要