IR@PKUHSC  > 北京大学第二临床医学院
学科主题临床医学
MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferative disorders detected by a newly developed RQ-PCR based on Taq Man MGB probes
Ruan, Guo-Rui; Jiang, Bin; Li, Ling-Di; Niu, Ji-Hong; Li, Jin-Lan; Xie, Min; Qin, Ya-Zhen; Liu, Yan-Rong; Huang, Xiao-Jun; Chen, Shan-Shan1
关键词Mpl W515l/k Mutation Chronic Myeloproliferative Disorders Real-time Quantitative Pcr
刊名HEMATOLOGICAL ONCOLOGY
2010-03-01
DOI10.1002/hon.899
28期:1页:33-39
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Oncology ; Hematology
资助者National Natural Science Foundation of China ; National High Technology Research and Development Program of China (863 Program) ; National Natural Science Foundation of China ; National High Technology Research and Development Program of China (863 Program)
研究领域[WOS]Oncology ; Hematology
关键词[WOS]WORLD-HEALTH-ORGANIZATION ; TYROSINE KINASE JAK2 ; ESSENTIAL THROMBOCYTHEMIA ; POLYCYTHEMIA-VERA ; V617F MUTATION ; ALLELE BURDEN ; IDIOPATHIC MYELOFIBROSIS ; MYELOID METAPLASIA
英文摘要

Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF). The mutations were detected by the newly developed real-time quantitative PCR (RQ-PCR) with TaqMan MGB probes and followed by the sequencing analysis. DNA samples were from 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferative disorders (cMPDs). Reference curves were obtained using cloned fragments of MPL containing either the wild-type or MPL W515L or MPL W515K mutated sequence; the predicted sensitivity level was at least 0.5%(0.1-0.5%) for MPL W515L and 0.5%(0.2-0.5%) for MPL W515K mutant allele in a wild-type background. The detection rates of MPL W515 mutations were 3.5% in 199 ET patients (7/199), 12.5% in 24 PMF patients (3/24) and 5.6% in 36 cMPD-unclassed patients (2/36), respectively. No MPL W515 mutations were detected in 32 polycythemia vera (PV) patients, 40 chronic myeloid leukaemia (CML) patients, 12 hypereosinophilic syndrome (HES) patients and 29 normal volunteers. The mean calculated burden of MPL mutant alleles using RQ-PCR for MPL W515L/K was 24.88 +/- 14.80% (range, 1.10-56.32%). MPL W515L/K patients presented lower haemoglobin levels, compared with the patients with JAK2V617F mutation-positive cMPDs (p < 0.01). The results demonstrated that RQ-PCR was a reliable and sensitive method for large-scale screening of the MPL W515L/K mutation in patients suspected to have a cMPD. It can also provide a quantitative estimate of mutant allele burden that might be useful for both patient prognosis and monitoring response to therapy. (C) Copyright 0 2009 John Wiley & Sons, Ltd.

语种英语
所属项目编号30670894 ; 2006AA02A405
资助者National Natural Science Foundation of China ; National High Technology Research and Development Program of China (863 Program) ; National Natural Science Foundation of China ; National High Technology Research and Development Program of China (863 Program)
WOS记录号WOS:000276560900006
Citation statistics
Cited Times:11[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/57401
Collection北京大学第二临床医学院
作者单位1.Peking Univ, Peoples Hosp, Beijing 100044, Peoples R China
2.Inst Hematol, Beijing 100044, Peoples R China
Recommended Citation
GB/T 7714
Ruan, Guo-Rui,Jiang, Bin,Li, Ling-Di,et al. MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferative disorders detected by a newly developed RQ-PCR based on Taq Man MGB probes[J]. HEMATOLOGICAL ONCOLOGY,2010,28(1):33-39.
APA Ruan, Guo-Rui.,Jiang, Bin.,Li, Ling-Di.,Niu, Ji-Hong.,Li, Jin-Lan.,...&Chen, Shan-Shan.(2010).MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferative disorders detected by a newly developed RQ-PCR based on Taq Man MGB probes.HEMATOLOGICAL ONCOLOGY,28(1),33-39.
MLA Ruan, Guo-Rui,et al."MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferative disorders detected by a newly developed RQ-PCR based on Taq Man MGB probes".HEMATOLOGICAL ONCOLOGY 28.1(2010):33-39.
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