International Journal of Hematology

, Volume 89, Issue 4, pp 517–522

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

  • Kohtaro Toyama
  • Masamitsu Karasawa
  • Arito Yamane
  • Hiromi Koiso
  • Akihiko Yokohama
  • Hideki Uchiumi
  • Takayuki Saitoh
  • Hiroshi Handa
  • Ken Sato
  • Hitoshi Takagi
  • Shuichi Miyawaki
  • Hirokazu Murakami
  • Yoshihisa Nojima
  • Norifumi Tsukamoto
Case Report

DOI: 10.1007/s12185-009-0280-y

Cite this article as:
Toyama, K., Karasawa, M., Yamane, A. et al. Int J Hematol (2009) 89: 517. doi:10.1007/s12185-009-0280-y

Abstract

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.

Keywords

Chronic myeloproliferative disorderBudd-Chiari syndromeClonality analysisJAK2-V617FEndogenous erythroid colony

Copyright information

© The Japanese Society of Hematology 2009

Authors and Affiliations

  • 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. 1.Department of Medicine and Clinical ScienceGunma University Graduate School of MedicineGunmaJapan
  2. 2.Department of Medicine and Molecular ScienceGunma University Graduate School of MedicineGunmaJapan
  3. 3.Division of Internal MedicineSaiseikai Maebashi HospitalGunmaJapan