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JAK2V617F基因突变继发颅内静脉窦血栓形成一例

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摘要 临床资料患者女性,39岁,主因“头痛进行性加重11个月”于2012年8月入院.近1年前,患者出现持续性头痛,以右侧顶枕部为著,阵发性加重,伴一过性视物不清.1个月前外院头颅磁共振静脉成像（magnetic resonance venography,MRV）显示“上矢状窦断续显影”.患者未曾口服避孕药,无特殊既往史及家族史.入院体格检查：血压115/80 mmHg（1 mmHg =0.133 kPa）,心率80次/min,内科体格检查无明显异常.意识清楚,言语流利,双侧眼底可见视乳头水肿,周围静脉充盈迂曲,静脉旁可见散在出血斑,脑神经检查正常,四肢肌力Ⅴ级,腱反射对称引出,病理征阴性,深浅感觉正常,脑膜刺激征阴性.
作者 韩菲 朱以诚 乔雷 王书杰 彭斌 张晓波 崔丽英
机构地区 中国医学科学院北京协和医院神经内科 中国医学科学院北京协和医院血液科 中国医学科学院北京协和医院放射科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2014年第10期737-738,共2页 Chinese Journal of Neurology
关键词 颅内静脉窦血栓形成 JAK2V617F 基因突变 磁共振静脉成像 持续性头痛 脑膜刺激征 继发 体格检查
分类号 R743 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献12

  • 1Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders [J]. Lancet, 2005, 365: 1054-1061.
  • 2Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms [ J ]. Leukemia, 2008, 22: 14-22.
  • 3Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders [ J ]. N Engl J Med, 2005, 352: 1779-1790.
  • 4Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis [ J ]. Cancer Cell. 2005.7 : 387-397.
  • 5李雯雯,张晓燕,王晓敏.骨髓增殖性肿瘤JAK2V617F基因突变与疾病临床特征的相关性分析[J].白血病．淋巴瘤,2012,21(7):412-415. 被引量：6
  • 6Tefferi A. Polycythemia vera and essential thrombocythemia: 2012 update on diagnosis, risk stratification, and management[ J ]. Am J Hematol, 2012, 87: 285-293.
  • 7Dahabreh IJ, Zoi K, Giannouli S, et al. Is JAK2 V617F mutation more than a diagnostic index? A meta-analysis of clinical outcomes in essential thrombocythemia[ J]. Leuk Res, 2009, 33: 67-73.
  • 8Lussana F, Caberlon S, Pagani C, et al. Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis : a systematic review[ J]. Thromb Res, 2009, 124: 409-417.
  • 9Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status : a prospective study [ J ]. Lancet, 2005, 366: 1945-1953.
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二级参考文献14

  • 1李舟(综述),朱平(审校).JAK2基因突变与骨髓增生性疾病的关系[J].白血病．淋巴瘤,2007,16(1):70-72. 被引量：1
  • 2Tefferi A, Vardiman JW.Classification and diagnosis of myeloproli- ferative neoplasms:2008 World Health Organization criteria mad point- of-care diagnostic algorithms. Leukemia, 2008, 22:14-22.
  • 3James C, U go V, Couedic JPL, et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature, 2005, 434:1144-1148.
  • 4Baxter E J, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myelopmliferative diseases. Lancet, 2005 ; 365 : 1054-1061.
  • 5Jelinek J, Oki Y, Charibyan V,et al. JAK2 mutation 1849C>T is rnre in acute leukemias but can be found in CMML,Philadelphia chromosome-negative CML,and megakaryocytic leukemia. Blood, 2005,15 : 3370-3373.
  • 6Carobbio A, Finazzi G, Guerini V, et al. Leukocytosis is a risk factor for thrombosis in essential thromboeythemia:interaction with treatment,standard risk factors,and Jak2 mutation status. Blood, 2007, 109:2310-2313.
  • 7Campbell PJ,Baxter EJ,Beer PA,et al. Mutation of JAK2 in the myeloproliferative disorders : timing, clonality studies, cytogenetie associations, and role in leukemic transformation. Blood, 2006; 108: 3548-3555.
  • 8Campbell P J, Linda MS, Georgina B,et at. Definition of subtypes of essential thrombocythemia and relation to polyeythemia vera based on JAK2V617F mutation status: a prospective study. Lancet, 2005, 366 : 1945-1953.
  • 9Michiels JJ. Clinical,pathological and molecular features of the chronic rnyeloprolifemtive disorders : MPD 2005 and beyond. Hematology, 2005,10(Suppl 1):215-223.
  • 10Kralovics R, Passsmonti F, Buser AS, et al. A gain of function mutation of JAK2 V617F in myeloproliferative disorders. N Engl J Med, 2005, 352:1779-1790.

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中华神经科杂志
2014年 第10期

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