Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-Chiari syndrome

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• 作者：Kohtaro Toyama (1)
  Masamitsu Karasawa (1)
  Arito Yamane (1)
  Hiromi Koiso (1)
  Akihiko Yokohama (1)
  Hideki Uchiumi (1)
  Takayuki Saitoh (1)
  Hiroshi Handa (1)
  Ken Sato (2)
  Hitoshi Takagi (2)
  Shuichi Miyawaki (3)
  Hirokazu Murakami (1)
  Yoshihisa Nojima (1)
  Norifumi Tsukamoto (1)
  
• 关键词：Chronic myeloproliferative disorder ; Budd ; Chiari syndrome ; Clonality analysis ; JAK2 ; V617F ; Endogenous erythroid colony
• 刊名：International Journal of Hematology
• 出版年：2009
• 出版时间：May 2009
• 年：2009
• 卷：89
• 期：4
• 页码：517-522
• 全文大小：281KB
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• 作者单位：Kohtaro Toyama (1)
  Masamitsu Karasawa (1)
  Arito Yamane (1)
  Hiromi Koiso (1)
  Akihiko Yokohama (1)
  Hideki Uchiumi (1)
  Takayuki Saitoh (1)
  Hiroshi Handa (1)
  Ken Sato (2)
  Hitoshi Takagi (2)
  Shuichi Miyawaki (3)
  Hirokazu Murakami (1)
  Yoshihisa Nojima (1)
  Norifumi Tsukamoto (1)
  
  1. Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan
  2. Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Gunma, Japan
  3. Division of Internal Medicine, Saiseikai Maebashi Hospital, Gunma, Japan
  

文摘

Approximately one-half of the cases of Budd-Chiari syndrome (BCS) are caused by bcr/abl negative chronic myeloproliferative disorders (CMPDs). Furthermore, a mutation in the Janus kinase protein (JAK2-V617F) is detected in half of the patients with BCS. However, whether the JAK2 mutation is the primary event leading to CMPDs and BCS is controversial. We present a report concerning a young woman who suffered from BCS prior to the onset of CMPDs. Analysis of X-chromosome inactivation patterns in this patient, using the human androgen receptor gene demonstrated monoclonal haematopoiesis in her granulocytes. In contrast, she had a low burden of a JAK2-V617F mutation positive clone among granulocyte populations. These results suggest that the JAK2-V617F mutation occurs after the onset of monoclonal haematopoiesis; thus the V617F mutation of JAK2 may not be the primary event in the induction of BCS.