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骨髓增殖性疾病的一种新型亚型？伴有肝静脉血栓形成的JAK2V617F相关性嗜酸性粒细胞增多症。

A novel subtype of myeloproliferative disorder? JAK2V617F-associated hypereosinophilia with hepatic venous thrombosis.

作者信息

Dasari Sowjanya, Naha Kushal, Hande Manjunath, Vivek G

机构信息

Department of Medicine, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

出版信息

BMJ Case Rep. 2013 Aug 30;2013:bcr2013200087. doi: 10.1136/bcr-2013-200087.

DOI:10.1136/bcr-2013-200087
PMID:23997080
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3762390/
Abstract

We report the case of a 27-year-old man, presenting with one episode of massive haematemesis and a history of persistent eosinophilia for the past 8 months. An evaluation revealed hepatic cirrhosis with portal hypertension, secondary to chronic Budd-Chiari syndrome. Further investigations confirmed a diagnosis of hypereosinophilic syndrome. Molecular genetic analysis was negative for FIP1L1-PDGFRA gene rearrangement, but positive for JAK2V617F mutation.

摘要

我们报告了一例27岁男性病例，该患者出现一次大量呕血，且在过去8个月中有持续嗜酸性粒细胞增多症病史。评估显示继发于慢性布加综合征的肝硬化伴门静脉高压。进一步检查确诊为高嗜酸性粒细胞综合征。分子遗传学分析显示FIP1L1-PDGFRA基因重排为阴性，但JAK2V617F突变呈阳性。

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本文引用的文献

1
Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis.布加综合征和门静脉血栓形成中的骨髓增殖性肿瘤：一项荟萃分析。
Blood. 2012 Dec 13;120(25):4921-8. doi: 10.1182/blood-2011-09-376517. Epub 2012 Oct 4.
2
Prevalence of JAK29V617F) mutation in intra-abdominal venous thrombosis.腹腔静脉血栓形成中JAK29V617F) 突变的患病率。
Trop Gastroenterol. 2011 Oct-Dec;32(4):279-84.
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Hypereosinophilia, JAK2V617F, and Budd-Chiari syndrome: who is responsible for what?高嗜酸性粒细胞增多症、JAK2V617F 和布加综合征：谁该对此负责？
Am J Hematol. 2011 Feb;86(2):223-4. doi: 10.1002/ajh.21926.
4
Hypereosinophilic syndrome: a multicenter, retrospective analysis of clinical characteristics and response to therapy.嗜酸性粒细胞增多综合征：一项多中心回顾性分析临床特征和治疗反应。
J Allergy Clin Immunol. 2009 Dec;124(6):1319-25.e3. doi: 10.1016/j.jaci.2009.09.022.
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Hypereosinophilic syndromes.高嗜酸性粒细胞综合征
Best Pract Res Clin Rheumatol. 2008 Oct;22(5):863-82. doi: 10.1016/j.berh.2008.09.010.
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