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Chronic neutrophilic leukemia with concurrent CSF3R and SETBP1 mutations: single colony clonality studies, in vitro sensitivity to JAK inhibitors and lack of treatment response to ruxolitinib.

作者信息

Lasho T L, Mims A, Elliott M A, Finke C, Pardanani A, Tefferi A

机构信息

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

Division of Hematology and Oncology, Medical University of South Carolina, Charleston, SC, USA.

出版信息

Leukemia. 2014 Jun;28(6):1363-5. doi: 10.1038/leu.2014.39. Epub 2014 Jan 21.

DOI:10.1038/leu.2014.39
PMID:24445868
Abstract
摘要

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1
Chronic neutrophilic leukemia with concurrent CSF3R and SETBP1 mutations: single colony clonality studies, in vitro sensitivity to JAK inhibitors and lack of treatment response to ruxolitinib.伴有CSF3R和SETBP1基因突变的慢性嗜中性粒细胞白血病:单克隆集落克隆性研究、对JAK抑制剂的体外敏感性及对鲁索替尼治疗无反应
Leukemia. 2014 Jun;28(6):1363-5. doi: 10.1038/leu.2014.39. Epub 2014 Jan 21.
2
Changes in allele frequencies of and mutations and evidence of clonal evolution in a chronic neutrophilic leukemia patient treated with ruxolitinib.使用鲁索替尼治疗的慢性嗜中性粒细胞白血病患者中JAK2和CALR突变的等位基因频率变化及克隆进化证据
Haematologica. 2017 May;102(5):e207-e209. doi: 10.3324/haematol.2016.163089. Epub 2017 Feb 16.
3
Ruxolitinib, a potent JAK1/JAK2 inhibitor, induces temporary reductions in the allelic burden of concurrent mutations in chronic neutrophilic leukemia.芦可替尼是一种有效的JAK1/JAK2抑制剂,可使慢性嗜中性粒细胞白血病中并发突变的等位基因负担暂时降低。
Haematologica. 2017 Jun;102(6):e238-e240. doi: 10.3324/haematol.2017.163790. Epub 2017 Mar 16.
4
CSF3R T618I, SETBP1 G870S, SRSF2 P95H, and ASXL1 Q780* tetramutation co-contribute to myeloblast transformation in a chronic neutrophilic leukemia.CSF3R T618I、SETBP1 G870S、SRSF2 P95H和ASXL1 Q780*四重突变共同促成慢性嗜中性粒细胞白血病中的成髓细胞转化。
Ann Hematol. 2021 Jun;100(6):1459-1461. doi: 10.1007/s00277-021-04491-2. Epub 2021 Apr 6.
5
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
Oncotarget. 2017 Mar 28;8(13):20834-20841. doi: 10.18632/oncotarget.15355.
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Atypical chronic myeloid leukemia with concomitant CSF3R T618I and SETBP1 mutations unresponsive to the JAK inhibitor ruxolitinib.伴有CSF3R T618I和SETBP1突变且对JAK抑制剂芦可替尼无反应的非典型慢性髓系白血病。
Ann Hematol. 2015 May;94(5):879-80. doi: 10.1007/s00277-014-2272-0. Epub 2014 Dec 11.
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Clinical response to ruxolitinib in CSF3R T618-mutated chronic neutrophilic leukemia.鲁索替尼治疗CSF3R T618突变型慢性中性粒细胞白血病的临床反应。
Ann Hematol. 2016 Jun;95(7):1197-200. doi: 10.1007/s00277-016-2664-4. Epub 2016 Apr 11.
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Genetic Response of Chronic Neutrophilic Leukemia With CSF3R T618I, SETBP1, and ASXL1 Mutations After Decitabine Therapy.地西他滨治疗后伴有CSF3R T618I、SETBP1和ASXL1突变的慢性嗜中性粒细胞白血病的遗传反应
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CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia.慢性嗜中性粒细胞白血病中的CSF3R、SETBP1和CALR突变
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Am J Hematol. 2015 Jul;90(7):653-6. doi: 10.1002/ajh.24031.

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Arch Med Sci. 2024 Dec 31;20(6):2090-2093. doi: 10.5114/aoms/199530. eCollection 2024.
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Cancers (Basel). 2025 Jan 12;17(2):227. doi: 10.3390/cancers17020227.
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Research progress of additional pathogenic mutations in chronic neutrophilic leukemia.

本文引用的文献

1
The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition.CSF3R T618I 突变导致小鼠发生致命性中性粒细胞肿瘤,对治疗性 JAK 抑制有反应。
Blood. 2013 Nov 21;122(22):3628-31. doi: 10.1182/blood-2013-06-509976. Epub 2013 Sep 30.
2
Mutation of the colony-stimulating factor-3 receptor gene is a rare event with poor prognosis in chronic myelomonocytic leukemia.集落刺激因子-3受体基因突变在慢性粒单核细胞白血病中是罕见事件,预后较差。
Leukemia. 2013 Sep;27(9):1946-9. doi: 10.1038/leu.2013.182. Epub 2013 Jun 18.
3
Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML.
慢性中性粒细胞白血病中附加致病性突变的研究进展。
Ann Hematol. 2024 Aug;103(8):2591-2600. doi: 10.1007/s00277-023-05550-6. Epub 2023 Nov 22.
4
Autoimmune hemolytic anemia complicating a chronic neutrophilic leukemia: A case report of a rare association.自身免疫性溶血性贫血合并慢性中性粒细胞白血病:一例罕见关联的病例报告
Clin Case Rep. 2023 May 26;11(6):e7432. doi: 10.1002/ccr3.7432. eCollection 2023 Jun.
5
Chronic Neutrophilic Leukemia: A Comprehensive Review of Clinical Characteristics, Genetic Landscape and Management.慢性中性粒细胞白血病:临床特征、遗传图谱及治疗的综合综述
Front Oncol. 2022 Apr 14;12:891961. doi: 10.3389/fonc.2022.891961. eCollection 2022.
6
Chronic neutrophilic leukemia complicated with monoclonal gammopathy of undetermined significance: A case report and literature review.慢性中性粒细胞白血病并发意义未明单克隆丙种球蛋白血症:病例报告及文献复习。
J Clin Lab Anal. 2022 Apr;36(4):e24287. doi: 10.1002/jcla.24287. Epub 2022 Feb 16.
7
Current Management of Chronic Neutrophilic Leukemia.慢性中性粒细胞白血病的治疗现状。
Curr Treat Options Oncol. 2021 Jun 7;22(7):59. doi: 10.1007/s11864-021-00856-x.
8
Eighty-year-old man with rare chronic neutrophilic leukemia caused by T618I mutation: A case report and review of literature.一名80岁男性因T618I突变引发罕见慢性嗜中性粒细胞白血病:病例报告及文献综述
World J Clin Cases. 2020 Dec 26;8(24):6337-6345. doi: 10.12998/wjcc.v8.i24.6337.
9
B-lymphoblastic leukemia arising in a patient with chronic neutrophilic leukemia.慢性中性粒细胞白血病患者并发的B淋巴细胞母细胞白血病。
Blood Adv. 2020 Nov 10;4(21):5389-5392. doi: 10.1182/bloodadvances.2020003109.
10
[Ruxolitinib for chronic neutrophilic leukemia: a case report and literature review].[芦可替尼治疗慢性中性粒细胞白血病:一例报告及文献综述]
Zhonghua Xue Ye Xue Za Zhi. 2018 Dec 14;39(12):1029-1032. doi: 10.3760/cma.j.issn.0253-2727.2018.12.012.
致癌性 CSF3R 突变在慢性中性粒细胞白血病和非典型 CML 中的作用。
N Engl J Med. 2013 May 9;368(19):1781-90. doi: 10.1056/NEJMoa1214514.
4
CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia.CSF3R T618I 是慢性中性粒细胞白血病中一种高度普遍且特异性的突变。
Leukemia. 2013 Sep;27(9):1870-3. doi: 10.1038/leu.2013.122. Epub 2013 Apr 22.
5
Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia.严重先天性中性粒细胞减少症进展为急性髓系白血病时的连续突变获得。
Blood. 2012 May 31;119(22):5071-7. doi: 10.1182/blood-2012-01-406116. Epub 2012 Feb 27.
6
A truncation mutant of Csf3r cooperates with PML-RARα to induce acute myeloid leukemia in mice.CSF3R 截断突变体与 PML-RARα 协同诱导小鼠发生急性髓系白血病。
Exp Hematol. 2011 Dec;39(12):1136-43. doi: 10.1016/j.exphem.2011.08.013. Epub 2011 Sep 10.
7
An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia.CSF3R基因的激活突变会引发遗传性慢性嗜中性粒细胞增多症。
J Exp Med. 2009 Aug 3;206(8):1701-7. doi: 10.1084/jem.20090693. Epub 2009 Jul 20.
8
In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia.严重先天性中性粒细胞减少症患者中表达获得性CSF3R突变的细胞的体内扩增。
Blood. 2009 Jan 15;113(3):668-70. doi: 10.1182/blood-2008-09-178087. Epub 2008 Nov 19.