Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
ORIGINAL ARTICLES
Differences in the JAK2 and MPL Mutation Status in the Cell Lineages of the bcr/abl-negative Chronic Myeloproliferative Neoplasm Subtypes
Kohtaro ToyamaMasamitsu KarasawaAkihiko YokohamaTakeki MitsuiHideki UchiumiTakayuki SaitohHiroshi HandaHirokazu MurakamiYoshihisa NojimaNorifumi Tsukamoto
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JOURNAL OPEN ACCESS

2011 Volume 50 Issue 21 Pages 2557-2561

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Abstract

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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© 2011 by The Japanese Society of Internal Medicine
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