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01-05-2009 | Case Report

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

Authors: 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

Published in: International Journal of Hematology | Issue 4/2009

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.

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Title: Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-Chiari syndrome
Authors: 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
Publication date: 01-05-2009
Publisher: Springer Japan
Published in: International Journal of Hematology / Issue 4/2009
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-009-0280-y

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