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2
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。
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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。
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Case report: Chronic neutrophilic leukemia associated with monoclonal gammopathies. A case series and review of genetic characteristics and practical management.病例报告：与单克隆丙种球蛋白病相关的慢性中性粒细胞白血病。病例系列及遗传特征与实际管理的综述
Front Oncol. 2022 Dec 7;12:1014671. doi: 10.3389/fonc.2022.1014671. eCollection 2022.
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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
Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.骨髓增殖性肿瘤的遗传图谱，重点关注分子诊断实验室检测
Life (Basel). 2021 Oct 30;11(11):1158. doi: 10.3390/life11111158.
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
Durable remission with ruxolitinib in a chronic neutrophilic leukemia patient harboring a truncation and membrane proximal CSF3R compound mutation.鲁索替尼使一名患有截短型和膜近端CSF3R复合突变的慢性嗜中性粒细胞白血病患者实现持久缓解。
Ann Hematol. 2021 Feb;100(2):581-584. doi: 10.1007/s00277-020-04152-w. Epub 2020 Jun 23.
9
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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Philadelphia-Negative Myeloproliferative Neoplasms: Laboratory Workup in the Era of Next-Generation Sequencing.费城阴性骨髓增殖性肿瘤：下一代测序时代的实验室检测。
Curr Hematol Malig Rep. 2019 Oct;14(5):376-385. doi: 10.1007/s11899-019-00534-8.

本文引用的文献

1
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.2016 年版世界卫生组织髓系肿瘤和急性白血病分类。
Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
2
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.
3
Clonal evolution revealed by whole genome sequencing in a case of primary myelofibrosis transformed to secondary acute myeloid leukemia.一例原发性骨髓纤维化转化为继发性急性髓系白血病中全基因组测序揭示的克隆进化
Leukemia. 2015 Apr;29(4):869-76. doi: 10.1038/leu.2014.289. Epub 2014 Sep 25.
4
Significant clinical response to JAK1/2 inhibition in a patient with CSF3R-T618I-positive atypical chronic myeloid leukemia.一名CSF3R-T618I阳性非典型慢性髓性白血病患者对JAK1/2抑制有显著临床反应。
Leuk Res Rep. 2014 Aug 1;3(2):67-9. doi: 10.1016/j.lrr.2014.07.002. eCollection 2014.
5
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.
6
Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML.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.
7
SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.SETBP1 突变发生在 9%的 MDS/MPN 和 4%的 MPN 病例中，与非典型 CML、单体 7、i(17)(q10) 等臂染色体、ASXL1 和 CBL 突变密切相关。
Leukemia. 2013 Sep;27(9):1852-60. doi: 10.1038/leu.2013.133. Epub 2013 Apr 30.
8
KIT-D816V oncogenic activity is controlled by the juxtamembrane docking site Y568-Y570.KIT-D816V 的致癌活性受跨膜对接位点 Y568-Y570 的控制。
Oncogene. 2014 Feb 13;33(7):872-81. doi: 10.1038/onc.2013.12. Epub 2013 Feb 18.

Changes in allele frequencies of and mutations and evidence of clonal evolution in a chronic neutrophilic leukemia patient treated with ruxolitinib.

作者信息

Nooruddin Zohra, Miltgen Nicholas, Wei Qi, Schowinsky Jeffrey, Pan Zengang, Tobin Jennifer, Purev Enkhtsetseg, Gutman Jonathan A, Robinson William, Pollyea Daniel A

机构信息

University of Colorado Division of Hematology, Aurora, CO, USA.

Children's Hospital of Colorado, Department of Pathology, Aurora, CO, USA.

出版信息

Haematologica. 2017 May;102(5):e207-e209. doi: 10.3324/haematol.2016.163089. Epub 2017 Feb 16.

DOI:10.3324/haematol.2016.163089
PMID:28209656
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5477626/
Abstract
摘要