title: Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-Chiari syndrome.
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.
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan. kotarot@med.gunma-u.ac.jp.
authors.forename: Kohtaro
authors.initials: K
authors.lastname: Toyama
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Karasawa
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
authors.forename: Arito
authors.initials: A
authors.lastname: Yamane
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
authors.forename: Hiromi
authors.initials: H
authors.lastname: Koiso
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
authors.forename: Akihiko
authors.initials: A
authors.lastname: Yokohama
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Uchiumi
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Saitoh
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Handa
authors.affiliation: Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Gunma, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Sato
authors.affiliation: Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Gunma, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Takagi
authors.affiliation: Division of Internal Medicine, Saiseikai Maebashi Hospital, Gunma, Japan.
authors.forename: Shuichi
authors.initials: S
authors.lastname: Miyawaki
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Murakami
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Nojima
authors.affiliation: Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
authors.forename: Norifumi
authors.initials: N
authors.lastname: Tsukamoto
mesh_terms: 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
chemical_list: D010649:Phenylalanine; D012313:RNA; D004247:DNA; D053614:Janus Kinase 2; D014633:Valine