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Does increasing the JAK2V617F assay sensitivity allow to identify more patients with MPN?

作者信息

Kouroupi E, Kiladjian J-J, Dosquet C, Menot M-L, Bonnin N, Ades L, Vainchenker W, Chomienne C, Cassinat B

出版信息

Blood Cancer J. 2012 May;2(5):e70. doi: 10.1038/bcj.2012.15. Epub 2012 May 4.

DOI:10.1038/bcj.2012.15
PMID:22829972
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3366068/
Abstract
摘要

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Does increasing the JAK2V617F assay sensitivity allow to identify more patients with MPN?提高JAK2V617F检测的灵敏度是否能识别出更多骨髓增殖性肿瘤患者？
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The JAK2V617F Point Mutation Increases the Osteoclast Forming Ability of Monocytes in Patients with Chronic Myeloproliferative Neoplasms and Makes their Osteoclasts more Susceptible to JAK2 Inhibition.JAK2V617F点突变增加了慢性骨髓增殖性肿瘤患者单核细胞的破骨细胞形成能力，并使他们的破骨细胞对JAK2抑制更敏感。
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Cell autonomous expression of CXCL-10 in JAK2V617F-mutated MPN.CXCL-10在JAK2V617F突变的骨髓增殖性肿瘤中的细胞自主表达。
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Thromboses and hemorrhages are common in MPN patients with high JAK2V617F allele burden.血栓形成和出血在JAK2V617F等位基因负荷高的骨髓增殖性肿瘤患者中很常见。
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Single nucleotide polymorphism (SNP)-based loss of heterozygosity (LOH) testing by real time PCR in patients suspect of myeloproliferative disease.应用实时 PCR 对疑似骨髓增殖性疾病患者进行基于单核苷酸多态性（SNP）的杂合性缺失（LOH）检测。
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本文引用的文献

1
Philadelphia-negative classical myeloproliferative neoplasms: critical concepts and management recommendations from European LeukemiaNet.费城阴性经典骨髓增殖性肿瘤：来自欧洲白血病网络的关键概念和管理建议。
J Clin Oncol. 2011 Feb 20;29(6):761-70. doi: 10.1200/JCO.2010.31.8436. Epub 2011 Jan 4.
2
Is the JAK2(V617F) mutation detectable in healthy volunteers?健康志愿者中能否检测到JAK2（V617F）突变？
Am J Hematol. 2010 Apr;85(4):287-8. doi: 10.1002/ajh.21627.
3
Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients.应用高分辨率熔解曲线法检测真性红细胞增多症患者 JAK2 外显子 12 突变的实验室间开发和验证。
PLoS One. 2010 Jan 26;5(1):e8893. doi: 10.1371/journal.pone.0008893.
4
The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases.JAK2和MPL突变对内脏静脉血栓形成诊断和预后的影响：241例报告
Blood. 2008 May 15;111(10):4922-9. doi: 10.1182/blood-2007-11-125328. Epub 2008 Feb 4.
5
Prevalence of the JAK2 V617F mutation is low among unselected patients with a first episode of unprovoked venous thromboembolism.在未经选择的初发无诱因静脉血栓栓塞患者中，JAK2 V617F突变的发生率较低。
J Thromb Haemost. 2008 Jan;6(1):203-5. doi: 10.1111/j.1538-7836.2007.02811.x. Epub 2007 Oct 22.
6
Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms.骨髓增殖性肿瘤的分类与诊断：2008年世界卫生组织标准及即时诊断算法
Leukemia. 2008 Jan;22(1):14-22. doi: 10.1038/sj.leu.2404955. Epub 2007 Sep 20.
7
The JAK2V617F mutation is detectable at very low level in peripheral blood of healthy donors.在健康供者的外周血中可检测到极低水平的JAK2V617F突变。
Leukemia. 2006 Sep;20(9):1622. doi: 10.1038/sj.leu.2404292. Epub 2006 Jun 15.
8
Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation.伴有V617F JAK2酪氨酸激酶突变的慢性嗜中性粒细胞白血病。
Haematologica. 2005 Dec;90(12):1696-7.