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.
Abstract
摘要
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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.
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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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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
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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.
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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.
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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。
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