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JAK1 somatic mutation in a myeloproliferative neoplasm.

作者信息

Arulogun Suzanne O, Choong Hock-Lai, Taylor Debbie, Ambrosoli Paula, Magor Graham, Irving Ian M, Keng Tee-Beng, Perkins Andrew C

机构信息

Sullivan Nicolaides Pathology, Brisbane, Australia.

Townsville Hospital, South Brisbane, Australia.

出版信息

Haematologica. 2017 Aug;102(8):e324-e327. doi: 10.3324/haematol.2017.170266. Epub 2017 May 26.

DOI:10.3324/haematol.2017.170266
PMID:28550193
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5541888/
Abstract
摘要

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本文引用的文献

1
Rapid Molecular Profiling of Myeloproliferative Neoplasms Using Targeted Exon Resequencing of 86 Genes Involved in JAK-STAT Signaling and Epigenetic Regulation.利用涉及JAK-STAT信号传导和表观遗传调控的86个基因的靶向外显子重测序对骨髓增殖性肿瘤进行快速分子谱分析。
J Mol Diagn. 2016 Sep;18(5):707-718. doi: 10.1016/j.jmoldx.2016.05.006. Epub 2016 Jul 19.
2
Application of an NGS-based 28-gene panel in myeloproliferative neoplasms reveals distinct mutation patterns in essential thrombocythaemia, primary myelofibrosis and polycythaemia vera.基于二代测序的28基因检测 panel 在骨髓增殖性肿瘤中的应用揭示了原发性血小板增多症、原发性骨髓纤维化和真性红细胞增多症中不同的突变模式。
Br J Haematol. 2016 Nov;175(3):419-426. doi: 10.1111/bjh.14269. Epub 2016 Jul 22.
3
Targeted Next-Generation Sequencing in Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia Aids Diagnosis in Challenging Cases and Identifies Frequent Spliceosome Mutations in Transformed Acute Myeloid Leukemia.骨髓增生异常综合征和慢性粒单核细胞白血病中的靶向新一代测序有助于疑难病例的诊断并鉴定转化型急性髓系白血病中常见的剪接体突变。
Am J Clin Pathol. 2016 Apr;145(4):497-506. doi: 10.1093/ajcp/aqw016. Epub 2016 Apr 22.
4
Chronic neutrophilic leukemia 2016: Update on diagnosis, molecular genetics, prognosis, and management.慢性中性粒细胞白血病 2016：诊断、分子遗传学、预后和治疗的最新进展。
Am J Hematol. 2016 Mar;91(3):341-9. doi: 10.1002/ajh.24284. Epub 2016 Feb 9.
5
Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable.非典型慢性粒细胞白血病、慢性粒单核细胞白血病及无法分类的骨髓增生异常综合征/骨髓增殖性肿瘤的分子发病机制
Int J Hematol. 2015 Mar;101(3):229-42. doi: 10.1007/s12185-014-1670-3. Epub 2014 Sep 12.
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Leukemia. 2014 Feb;28(2):417-9. doi: 10.1038/leu.2013.271. Epub 2013 Sep 19.
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Mutations and prognosis in primary myelofibrosis.原发性骨髓纤维化中的突变与预后。
Leukemia. 2013 Sep;27(9):1861-9. doi: 10.1038/leu.2013.119. Epub 2013 Apr 26.
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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.
9
JAK/STAT signaling in hematological malignancies.JAK/STAT 信号通路在血液系统恶性肿瘤中的作用。
Oncogene. 2013 May 23;32(21):2601-13. doi: 10.1038/onc.2012.347. Epub 2012 Aug 6.
10
A double-blind, placebo-controlled trial of ruxolitinib for myelofibrosis.芦可替尼治疗骨髓纤维化的双盲、安慰剂对照试验。
N Engl J Med. 2012 Mar 1;366(9):799-807. doi: 10.1056/NEJMoa1110557.