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

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

doi:10.1007/s12185-009-0280-y

Cited by 3 publications

(1 citation statement)

References 26 publications

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“…Whether acquisition of the JAK2-V617F mutation is an early event or not in the pathogenesis of MPNs is one of the important issues to be resolved. The results of an X-chromosome based clonality assay and chromosome analysis performed in MPN patients suggested that the JAK2-V617F mutation is not a primary event in the progression of the disease (16)(17)(18)(19)(20)(21). In addition, chromosomal abnormalities or other gene mutations have been reported to precede acquisition of JAK2-V617F in hematopoietic progenitor cells (18)(19)(20)(21), suggesting that JAK2-V617F might be associated with clonal hematopoiesis that is caused by an unknown mechanism.…”

Section: Discussionmentioning

confidence: 99%

Differences in the JAK2 and MPL Mutation Status in the Cell Lineages of the bcr/abl-negative Chronic Myeloproliferative Neoplasm Subtypes

et al. 2011

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Objective While the somatic mutation of Janus Kinase 2 (JAK2) and the thrombopoietin receptor (c-MPL) gene are thought to affect the pathogenesis of bcr/abl negative chronic myeloproliferative neoplasm (MPN), the relationship between the mutation and the clinical features remain obscure. Methods The mutation status of these genes in granulocytes, platelets, T-cells, and erythroid colonies (BFU-E) was obtained from 115 MPN patients, and then the clinical features of the MPN subtypes were compared. Results The JAK2-V617F mutation was observed in three lineages of granulocytes, platelets, and BFU-E in almost all polycythemia vera (PV) and primary myelofibrosis (PMF) patients. In contrast, 68% of essential thrombocythemia (ET) patients have the JAK2-V617F mutation in at least one of the lineages, of which 70% of these patients have the JAK2-V617F mutation in three lineages; the remaining ET patients with the JAK2-V617F mutation only exhibited the mutation in one or two lineages. Further, the ET patients that exhibited the JAK2-V617F mutation in three lineages had higher WBC and granulocyte counts as compared to the ET patients that did not have the JAK2-V617F mutation or only had the mutation in one or two lineages. Concerning the MPL gene, two ET patients had the MPL-W515L gene mutation in their platelets, although the lineage of the JAK2-V617F mutation involved differed from case to case. Conclusion The progenitor cells that are involved with the JAK2-V617F mutation in MPNs are different in each subtype and this difference may also affect the clinical features of MPNs.

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Section: Discussionmentioning

confidence: 99%

Differences in the JAK2 and MPL Mutation Status in the Cell Lineages of the bcr/abl-negative Chronic Myeloproliferative Neoplasm Subtypes

et al. 2011

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Serum Iodine Is Increased in Subjects Having Budd–Chiari Syndrome

Zhuang

et al. 2015

Biol Trace Elem Res

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This study was performed to investigate the status of serum iodine concentration among the Budd-Chiari syndrome (BCS) patients and its effect on thyroid hormone. The study group serum specimens were collected from 233 BCS patients and 60 healthy people. Serum iodine was analyzed with the Sandell-Kolthoff method, and the ELISA method was used to detect thyroid function: TSH, T3, T4, FT3, and FT4. The serum iodine level of patients with BCS was 316.7 ± 256.8 μg/L, greatly higher than 76.3 ± 25.7 μg/L of serum iodine for control group (p < 0.001), but with no significant difference among different types of BCS. There were no statistically significant differences in thyroid hormone levels (TSH, T3, T4, FT3, and FT4) between people with BCS and control group, although the TSH level of BCS group is slightly higher than that of normal control group. This study demonstrates that iodine may be related to the pathogenesis of BCS and needs to be paid more attention.

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The JAK2 V617F Allele Burden in Latent Myeloproliferative Neoplasms Presenting with Splanchnic Vein Thrombosis

Goodyer

Langabeer

Haslam

et al. 2015

Pathol. Oncol. Res.

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

Cited by 3 publications

References 26 publications

Differences in the JAK2 and MPL Mutation Status in the Cell Lineages of the bcr/abl-negative Chronic Myeloproliferative Neoplasm Subtypes

Differences in the JAK2 and MPL Mutation Status in the Cell Lineages of the bcr/abl-negative Chronic Myeloproliferative Neoplasm Subtypes

Serum Iodine Is Increased in Subjects Having Budd–Chiari Syndrome

The JAK2 V617F Allele Burden in Latent Myeloproliferative Neoplasms Presenting with Splanchnic Vein Thrombosis

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