...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >Implications of Janus Kinase 2 Mutation in Embolic Stroke of Unknown Source
【24h】

Implications of Janus Kinase 2 Mutation in Embolic Stroke of Unknown Source

机译：Janus激酶2突变在未知来源栓塞中的影响

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The role of genetic mutations in cerebral ischemia is not completely understood. Among these genetic variations, Philadelphia-negative gain-of-function mutation in the janus kinase 2 (JAK2) protein leads to overexpression of the genes involved in cell growth and proliferation, and has been linked to development of hematological malignancies, specifically, myeloproliferative neoplasms (MPNs; essential thrombocythemia [ET], polycythemia vera [PV], and primary myelofibrosis). Overt ET and PV are known to induce a prothrombotic state that leads to development of vascular complications, including cerebral arterial or venous thrombosis. Thromboembolism can precede overt presentation of an MPN by 2-3 years. As such, for the selected cases of embolic stroke or cerebrovascular sinus thrombosis with otherwise undetermined source and persistent thrombocytosis or polycythemia, in the absence of a confirmed MPN diagnosis, screening for JAK2 mutation may be reasonable, as early diagnosis and appropriate treatment can influence outcome by preventing recurrent thrombotic events. In this article, we review the literature on the genetics, pathogenesis, clinical manifestations, and treatment of JAK2-associated thrombosis, and present 2 cases of JAK2-associated cerebral arterial infarction and cerebral and systemic venous thromboembolism with otherwise negative etiology workup for stroke.
机译：遗传突变在脑缺血中的作用不完全理解。在这些遗传变异中，Janus激酶2（JAK2）蛋白的费城阴性功能突变导致涉及细胞生长和增殖的基因的过度表达，并且与血液天动恶性肿瘤的发育有关，具体而言，肌酚病的肿瘤（MPNS;基本血小板血症[ET]，多胆血症Vera [PV]和原发性骨髓纤维化）。已知公开ET和PV诱导癌细胞导致血管并发症的发展，包括脑动脉或静脉血栓形成。血栓栓塞可以在公开展示中，在2 - 3年内将MPN发表。因此，对于栓塞中风或脑血管鼻窦血栓形成的所选病例，否则未确定的源和持续的血小伤症或多循环血症，在没有确认的MPN诊断的情况下，jak2突变的筛查可能是合理的，因为早期诊断和适当的治疗可以影响结果通过预防复发性血栓性事件。在本文中，我们审查了JAK2相关血栓形成的遗传学，发病机制，临床表现和治疗的文献，并为中风的其他阴性病因次疗法提供了2例JAK2相关脑动脉梗死和脑和全身静脉血栓栓塞。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号