Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-Chiari syndrome.
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.
Toyama
Kohtaro
K
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan. kotarot@med.gunma-u.ac.jp.
Karasawa
Masamitsu
M
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
Yamane
Arito
A
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
Koiso
Hiromi
H
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
Yokohama
Akihiko
A
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
Uchiumi
Hideki
H
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
Saitoh
Takayuki
T
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
Handa
Hiroshi
H
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
Sato
Ken
K
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Gunma, Japan.
Takagi
Hitoshi
H
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Gunma, Japan.
Miyawaki
Shuichi
S
Division of Internal Medicine, Saiseikai Maebashi Hospital, Gunma, Japan.
Murakami
Hirokazu
H
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
Nojima
Yoshihisa
Y
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
Tsukamoto
Norifumi
N
Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D006502:Budd-Chiari Syndrome / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D004247:DNA / Q000235:genetics; D005260:Female; D015894:Genome, Human / Q000235:genetics; D006410:Hematopoiesis / Q000235:genetics*; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D010649:Phenylalanine / Q000235:genetics / Q000378:metabolism; D012313:RNA / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014633:Valine / Q000235:genetics / Q000378:metabolism; D049951:X Chromosome Inactivation / Q000235:genetics
D010649:Phenylalanine; D012313:RNA; D004247:DNA; D053614:Janus Kinase 2; D014633:Valine