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SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML.

作者信息

Laborde R R, Patnaik M M, Lasho T L, Finke C M, Hanson C A, Knudson R A, Ketterling R P, Pardanani A, Tefferi A

机构信息

Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA.

出版信息

Leukemia. 2013 Oct;27(10):2100-2. doi: 10.1038/leu.2013.97. Epub 2013 Apr 5.

DOI:10.1038/leu.2013.97
PMID:23558523
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3806243/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31d/3806243/e836de019a8e/leu201397f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31d/3806243/e836de019a8e/leu201397f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31d/3806243/e836de019a8e/leu201397f1.jpg

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Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia.CSF3R、SRSF2和SETBP1突变在慢性嗜中性粒细胞白血病和慢性粒单核细胞白血病中的临床意义
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本文引用的文献

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Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes.梅奥慢性粒单核细胞白血病 WHO 定义预后模型:ASXL1 和剪接体成分突变与结局。
Leukemia. 2013 Jul;27(7):1504-10. doi: 10.1038/leu.2013.88. Epub 2013 Mar 27.
2
SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias.658例骨髓增生异常综合征、慢性粒单核细胞白血病和继发性急性髓系白血病患者中的SETBP1突变
Leukemia. 2013 Jun;27(6):1401-3. doi: 10.1038/leu.2013.35. Epub 2013 Feb 5.
3
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.
Front Oncol. 2021 Sep 30;11:751668. doi: 10.3389/fonc.2021.751668. eCollection 2021.
4
Cerebral localization of chronic myelomonocytic leukemia: a case report.慢性髓单核细胞白血病的脑部定位:病例报告。
J Med Case Rep. 2021 Jul 25;15(1):368. doi: 10.1186/s13256-021-02947-7.
5
Diagnosis and treatment of chronic myelomonocytic leukemia.慢性粒单核细胞白血病的诊断与治疗
Blood Res. 2021 Apr 30;56(S1):S5-S16. doi: 10.5045/br.2021.2020321.
6
Successful long-term treatment with azacitidine in patient with chronic myelomonocytic leukemia.阿扎胞苷成功长期治疗慢性粒单核细胞白血病患者。
Hematol Rep. 2020 Dec 2;12(3):8537. doi: 10.4081/hr.2020.8537.
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Efficacy of Ruxolitinib in Patients With Chronic Neutrophilic Leukemia and Atypical Chronic Myeloid Leukemia.芦可替尼治疗慢性中性粒细胞白血病和不典型慢性髓性白血病患者的疗效。
J Clin Oncol. 2020 Apr 1;38(10):1006-1018. doi: 10.1200/JCO.19.00895. Epub 2019 Dec 27.
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Chronic Myelomonocytic Leukemia: Insights into Biology, Prognostic Factors, and Treatment.慢性髓单核细胞白血病:生物学、预后因素和治疗的新见解。
Curr Oncol Rep. 2019 Nov 14;21(11):101. doi: 10.1007/s11912-019-0855-6.
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Diagnosis and Treatment of Chronic Myelomonocytic Leukemias in Adults: Recommendations From the European Hematology Association and the European LeukemiaNet.成人慢性粒单核细胞白血病的诊断与治疗:欧洲血液学协会和欧洲白血病网的建议
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4
SETBP1 and miR_4319 dysregulation in primary myelofibrosis progression to acute myeloid leukemia.原发性骨髓纤维化向急性髓系白血病进展过程中 SETBP1 和 miR_4319 的失调。
J Hematol Oncol. 2012 Aug 8;5:48. doi: 10.1186/1756-8722-5-48.
5
Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10.Setbp1 通过激活 Hoxa9 和 Hoxa10 促进小鼠髓系祖细胞的自我更新。
Blood. 2012 Jun 21;119(25):6099-108. doi: 10.1182/blood-2011-10-388710. Epub 2012 May 7.
6
DIPSS plus: a refined Dynamic International Prognostic Scoring System for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count, and transfusion status.DIPSS plus:一种改良的原发性骨髓纤维化动态国际预后评分系统,纳入了核型、血小板计数和输血状态的预后信息。
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Cytogenetic risk stratification in chronic myelomonocytic leukemia.慢性粒单核细胞白血病的细胞遗传学危险分层。
Haematologica. 2011 Mar;96(3):375-83. doi: 10.3324/haematol.2010.030957. Epub 2010 Nov 25.
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Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.由于 SETBP1 杂合性不足导致的表达减少引起发育性和表达性语言延迟,表明其表型与 Schinzel-Giedion 综合征不同。
J Med Genet. 2011 Feb;48(2):117-22. doi: 10.1136/jmg.2010.084582. Epub 2010 Oct 30.
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.SETBP1 基因中的新生突变导致辛基尔-吉迪恩综合征。
Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2.
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SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia.SETBP1 过表达是一种新的白血病发病机制,可预测老年急性髓系白血病患者的不良预后。
Blood. 2010 Jan 21;115(3):615-25. doi: 10.1182/blood-2009-06-227363. Epub 2009 Nov 16.