骨髓增殖性疾病患者中的MPLW515L点突变

[MPLW515L point mutation in patients with myeloproliferative disease].

作者信息

Xia Jun, Xu Wei, Zhang Su-Jiang, Fan Lei, Qiao Chun, Li Jian-Yong

机构信息

Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, Jiangsu Province, China.

出版信息

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2008 Dec;16(6):1421-4.

PMID:19099657

Abstract

In order to investigate the frequency of MPLW515L and JAK2V617F point mutations of the patients with myeloproliferative disease (MPD) in Nanjing area, MPLW515L and JAK2V617F point mutations were simultaneously detected by alleles specific polymerase chain reaction (AS-PCR) and sequencing in 190 MPD patients. The results showed that MPLW515L point mutation was detected in 1 out of 102 essential thrombocythemia (ET) patients (1.0%) and was not detected in 32 polycythemia vera (PV) patients, 13 idiopathic myelofibrosis (IMF) patients, 43 chronic myelogenous leukemia (CML) patients. JAK2V617F point mutation was detected in 20 out of 32 PV patients (62.5%), 43 out of 102 ET patients (42.2%), 5 out of 13 IMF patients (38.5%), and was not detected in 43 CML patients. It is concluded that MPLW515L point mutation exists in ET patient, but is not found in PV, IMF and CML. JAK2V617F point mutation exists in PV, ET and IMF, but not in CML.

摘要

为了调查南京地区骨髓增殖性疾病（MPD）患者中MPLW515L和JAK2V617F点突变的发生率，采用等位基因特异性聚合酶链反应（AS-PCR）和测序技术对190例MPD患者同时检测MPLW515L和JAK2V617F点突变。结果显示，102例原发性血小板增多症（ET）患者中有1例检测到MPLW515L点突变（1.0%），32例真性红细胞增多症（PV）患者、13例原发性骨髓纤维化（IMF）患者、43例慢性粒细胞白血病（CML）患者均未检测到该突变。JAK2V617F点突变在32例PV患者中有20例检测到（62.5%），102例ET患者中有43例检测到（42.2%），13例IMF患者中有5例检测到（38.5%），43例CML患者未检测到该突变。结论：MPLW515L点突变存在于ET患者中，而在PV、IMF和CML患者中未发现；JAK2V617F点突变存在于PV、ET和IMF患者中，而在CML患者中未发现。