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慢性骨髓增殖性疾病患者粒细胞和血小板的JAK2-V617F突变分析:研究血小板的优势

JAK2-V617F mutation analysis of granulocytes and platelets from patients with chronic myeloproliferative disorders: advantage of studying platelets.

作者信息

Toyama Kohtaro, Karasawa Masamitsu, Yamane Arito, Irisawa Hiroyuki, Yokohama Akihiko, Saitoh Takayuki, Handa Hiroshi, Matsushima Takafumi, Sawamura Morio, Miyawaki Shuichi, Murakami Hirokazu, Nojima Yoshihisa, Tsukamoto Norifumi

机构信息

Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Gunma, Japan.

出版信息

Br J Haematol. 2007 Oct;139(1):64-9. doi: 10.1111/j.1365-2141.2007.06755.x.

DOI:10.1111/j.1365-2141.2007.06755.x
PMID:17854308
Abstract

There have been conflicting reports over the JAK2-V617F mutation status of platelets in chronic myeloproliferative diseases (CMPDs). The aim of this study was to analyse JAK2-V617F status, not only in granulocytes but also in platelets. The JAK2-V617F mutation was analysed in both granulocytes and platelets in 115 patients with CMPDs using direct sequencing. JAK2-V617F was detected in granulocytes from 71 of those patients, all 71 of whom also had platelet JAK2-V617F expression. The remaining 44 patients showed negative JAK2-V617F expression on granulocytes, but positive JAK2-V617F expression was detected on the platelets from nine of the 33 essential thrombocythaemia (ET) patients, one of the eight polycythaemia vera patients, and two of the three primary myelofibrosis patients. When ET patients were divided into three groups according to granulocyte and platelet JAK2-V617F status (both-positive, platelets-only positive and both-negative), the both-positive and platelets-only positive groups shared the clinical features of higher white blood cell count and frequent thrombosis. These results suggest that analysis of platelets is a more sensitive approach for detecting JAK2-V617F in CMPD patients than analysis of granulocytes. They also suggest that previous reports of the incidence of JAK2-V617F in CMPD patients, obtained using only analysis of granulocytes, could be underestimations.

摘要

关于慢性骨髓增殖性疾病(CMPDs)中血小板的JAK2-V617F突变状态,一直存在相互矛盾的报道。本研究的目的是不仅分析粒细胞中的JAK2-V617F状态,还分析血小板中的JAK2-V617F状态。使用直接测序法对115例CMPD患者的粒细胞和血小板中的JAK2-V617F突变进行了分析。在其中71例患者的粒细胞中检测到JAK2-V617F,这71例患者的血小板中也均有JAK2-V617F表达。其余44例患者的粒细胞JAK2-V617F表达为阴性,但在33例原发性血小板增多症(ET)患者中的9例、8例真性红细胞增多症患者中的1例以及3例原发性骨髓纤维化患者中的2例的血小板中检测到JAK2-V617F阳性表达。当根据粒细胞和血小板的JAK2-V617F状态将ET患者分为三组(均为阳性、仅血小板阳性和均为阴性)时,均为阳性组和仅血小板阳性组具有白细胞计数较高和血栓形成频繁的临床特征。这些结果表明,对于检测CMPD患者中的JAK2-V617F,分析血小板比分析粒细胞是一种更敏感的方法。它们还表明,以前仅使用粒细胞分析获得的CMPD患者中JAK2-V617F发生率的报告可能低估了实际情况。

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