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The mutant JAK2 allele burden in children with essential thrombocythemia.

作者信息

Teofili Luciana, Cenci Tonia, Martini Maurizio, Capodimonti Sara, Torti Lorenza, Giona Fiorina, Amendola Angela, Randi Maria Luigia, Putti Maria Caterina, Scapin Margherita, Leone Giuseppe, Larocca Luigi Maria

出版信息

Br J Haematol. 2009 May;145(3):430-2. doi: 10.1111/j.1365-2141.2009.07591.x. Epub 2009 Feb 4.

DOI:10.1111/j.1365-2141.2009.07591.x
PMID:19208099
Abstract
摘要

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The mutant JAK2 allele burden in children with essential thrombocythemia.原发性血小板增多症患儿中突变型JAK2等位基因负荷
Br J Haematol. 2009 May;145(3):430-2. doi: 10.1111/j.1365-2141.2009.07591.x. Epub 2009 Feb 4.
2
Influence of JAK2V617F allele burden on phenotype in essential thrombocythemia.JAK2V617F等位基因负荷对原发性血小板增多症表型的影响。
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Most pediatric patients with essential thrombocythemia show hypersensitivity to erythropoietin in vitro, with rare JAK2 V617F-positive erythroid colonies.大多数原发性血小板增多症的儿科患者在体外对促红细胞生成素表现出超敏反应,JAK2 V617F阳性红系集落罕见。
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Clinical correlates of JAK2V617F allele burden in essential thrombocythemia.真性红细胞增多症中JAK2V617F等位基因负荷的临床相关性
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Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with essential thrombocythemia and B-chronic lymphocytic leukemia and in two relatives with lymphoproliferative disorders.真性红细胞增多症和B细胞慢性淋巴细胞白血病患者以及两名患有淋巴增殖性疾病的亲属的淋巴组织中未检测到V617F JAK2突变。
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JAK2 V617F mutational frequency in essential thrombocythemia associated with splanchnic or cerebral vein thrombosis.与内脏或脑静脉血栓形成相关的原发性血小板增多症中JAK2 V617F突变频率
Am J Hematol. 2011 Jun;86(6):526-8. doi: 10.1002/ajh.22024.
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JAK2V617F mutation and allele burden are associated with distinct clinical and morphological subtypes in patients with essential thrombocythaemia.JAK2V617F突变及等位基因负荷与原发性血小板增多症患者不同的临床和形态学亚型相关。
J Clin Pathol. 2012 Oct;65(10):953-5. doi: 10.1136/jclinpath-2012-200804. Epub 2012 Jun 20.
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JAK2 mutations and coronary ischemia.JAK2突变与冠状动脉缺血。
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Thrombosis can occur at any phase of essential thrombocythemia with JAK2(V617F) mutation: a single institutional study in Japan.在伴有JAK2(V617F)突变的原发性血小板增多症的任何阶段都可能发生血栓形成:日本一项单中心研究
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The production of JAK2 wild-type platelets is not downregulated in patients with JAK2 V617F mutant-positive essential thrombocythaemia.
Br J Haematol. 2009 Apr;145(1):128-30. doi: 10.1111/j.1365-2141.2009.07597.x. Epub 2009 Jan 12.

引用本文的文献

1
Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before 20 years of age: a systematic review.20 岁以下被诊断为原发性血小板增多症或真性红细胞增多症患者的特征和结局:系统评价。
Haematologica. 2019 Aug;104(8):1580-1588. doi: 10.3324/haematol.2018.200832. Epub 2019 Jan 24.