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Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.真性红细胞增多症中功能获得性JAK2种系突变与JAK2V617F的共存。
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2
Masked polycythaemia vera is genetically intermediate between JAK2V617F mutated essential thrombocythaemia and overt polycythaemia vera.隐匿性真性红细胞增多症在基因上介于JAK2V617F突变的原发性血小板增多症和显性真性红细胞增多症之间。
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Nongenetic stochastic expansion of JAK2V617F-homozygous subclones in polycythemia vera?真性红细胞增多症中JAK2V617F纯合子亚克隆的非遗传随机扩增？
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IgG-lymphoplasmacytic lymphoma following polycythemia vera: JAK2 V617F and MYD88 L265P mutations separated in the same house.真性红细胞增多症后发生的IgG淋巴细胞浆细胞淋巴瘤：JAK2 V617F和MYD88 L265P突变在同一病例中分离出现
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Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.15例JAK2V617F阴性真性红细胞增多症患者中JAK2外显子12突变的检测
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Am J Hematol. 2007 Jan;82(1):80-2. doi: 10.1002/ajh.20721.
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Critical requirement for Stat5 in a mouse model of polycythemia vera.Stat5 在小鼠真性红细胞增多症模型中的关键要求。
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Deregulation of JAK2 signaling underlies primary cutaneous CD8 aggressive epidermotropic cytotoxic T-cell lymphoma.JAK2 信号通路失调是原发性皮肤 CD8 阳性侵袭性亲表皮细胞毒性 T 细胞淋巴瘤的基础。
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JAK2 ex13InDel drives oncogenic transformation and is associated with chronic eosinophilic leukemia and polycythemia vera.JAK2 ex13InDel 驱动致癌转化，并与慢性嗜酸性粒细胞白血病和真性红细胞增多症相关。
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本文引用的文献

1
Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia.胚系 JAK2 突变 E846D 和 R1063H 与伴有巨核细胞异型的遗传性红细胞增多症的合作。
Blood. 2016 Sep 8;128(10):1418-23. doi: 10.1182/blood-2016-02-698951. Epub 2016 Jul 7.
2
Myeloproliferative Neoplasms: A Contemporary Review.骨髓增殖性肿瘤：当代综述。
JAMA Oncol. 2015 Apr;1(1):97-105. doi: 10.1001/jamaoncol.2015.89.
3
Effect of mutation order on myeloproliferative neoplasms.突变顺序对骨髓增殖性肿瘤的影响。
N Engl J Med. 2015 Feb 12;372(7):601-612. doi: 10.1056/NEJMoa1412098.
4
Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery.癌症基因组测序中的差异凸显了发现驱动突变的机会。
Cancer Res. 2014 Nov 15;74(22):6390-6396. doi: 10.1158/0008-5472.CAN-14-1020. Epub 2014 Sep 25.
5
Structural basis of recognition of interferon-α receptor by tyrosine kinase 2.干扰素-α受体酪氨酸激酶 2 识别的结构基础。
Nat Struct Mol Biol. 2014 May;21(5):443-8. doi: 10.1038/nsmb.2807. Epub 2014 Apr 6.
6
MutationTaster2: mutation prediction for the deep-sequencing age.MutationTaster2：深度测序时代的突变预测
Nat Methods. 2014 Apr;11(4):361-2. doi: 10.1038/nmeth.2890.
7
The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera.真性红细胞增多症中JAK2（V617F）与9号染色体短臂获得性单亲二倍体的关系。
Leukemia. 2014 Apr;28(4):938-41. doi: 10.1038/leu.2014.20. Epub 2014 Jan 27.
8
Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes.对真性红细胞增多症的全外显子组测序揭示了 T 细胞和粒细胞共有的新型驱动基因和体细胞突变。
Leukemia. 2014 Apr;28(4):935-8. doi: 10.1038/leu.2014.7. Epub 2014 Jan 13.
9
Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.激酶结构域中的种系 JAK2 突变导致遗传性血小板增多症，且对 JAK2 和 HSP90 抑制剂具有抗性。
Blood. 2014 Feb 27;123(9):1372-83. doi: 10.1182/blood-2013-05-504555. Epub 2014 Jan 7.
10
A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis.一种新的激活、种系 JAK2 突变 JAK2R564Q，导致家族性原发性血小板增多症。
Blood. 2014 Feb 13;123(7):1059-68. doi: 10.1182/blood-2012-12-473777. Epub 2013 Dec 31.

Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.

作者信息

Lanikova Lucie, Babosova Olga, Swierczek Sabina, Wang Linghua, Wheeler David A, Divoky Vladimir, Korinek Vladimir, Prchal Josef T

机构信息

Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT.

George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, UT.

出版信息

Blood. 2016 Nov 3;128(18):2266-2270. doi: 10.1182/blood-2016-04-711283. Epub 2016 Sep 19.

DOI:10.1182/blood-2016-04-711283
PMID:27647865
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5095759/
Abstract
摘要