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学科主题临床医学
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations
Li, Ning1,2; Yao, Qiu-Mei1,2; Gale, Robert Peter3; Li, Jin-Lan1,2; Li, Ling-Di1,2; Zhao, Xiao-Su1,2; Jiang, Hao1,2; Jiang, Qian1,2; Jiang, Bin1,2; Shi, Hong-Xia1,2; Chen, Shan-Shan1,2; Liu, Kai-Yan1,2; Huang, Xiao-Jun1,2; Ruan, Guo-Rui1,2
关键词Calreticulin Mutation Myeloproliferative Neoplasm Allele Burden
刊名LEUKEMIA RESEARCH
2015-05-01
DOI10.1016/j.leukres.2015.02.006
39期:5页:510-514
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Oncology ; Hematology
研究领域[WOS]Oncology ; Hematology
关键词[WOS]JAK2 V617F MUTATION ; MYELOPROLIFERATIVE NEOPLASMS ; POLYCYTHEMIA-VERA ; W515L/K MUTATIONS ; JAK2V617F ; CALRETICULIN ; DISORDERS ; FEATURES ; SUBTYPES
英文摘要

CALR mutations are detected in about 50% of persons of predominately European descent with essential thrombocythemia (ET) or primary myelofibrosis (PMF) with wild-type alleles of JAK2 and MPL. We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N= 234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. CALR mutation was detected in 53% (95% CI, 46-60%) of subjects with ET and 56% (95% CI, 41-70%) of subjects with PMF. 152 CALR mutations were identified clustering into 15 types including deletions (N= 8), insertions (N=3) and complex indels (N=4). We also identified 9 new mutations. Mean (+/- SD) mutant allele burden was 31 +/- 12% (range, 0.5-69%). Persons with PMF had higher CALR mutant allele burdens than those with ET (38 +/- 8% vs. 29 +/- 12%; P < 0.001). Amongst persons with CALR mutations, those with PMF had different clinical features from those with ET. These data may be useful for diagnosing ET and PMF in Chinese who are about 40% of all persons with ET and PMF and for monitoring therapy-response. They also highlight similarities and differences in CALR mutations between Chinese and persons of predominately European descent with these diseases. (C) 2015 Elsevier Ltd. All rights reserved.

语种英语
WOS记录号WOS:000352962100004
项目编号2013CB733701 ; 81230013 ; 81170484 ; 7122199 ; 20130001110079
资助机构National Basic Research Program of China ; Program of National Natural Science Foundation of China ; National Natural Science Foundation of China ; Beijing Municipal Natural Science Foundation ; Specialized Research Fund for the Doctoral Program of Higher Education of China ; NIHR Biomedical Research Centre funding scheme
引用统计
被引频次:6[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53873
专题北京大学第二临床医学院
北京大学药学院_药事管理与临床药学系
北京大学第二临床医学院_血液科
北京大学临床肿瘤学院_移植与免疫治疗病区
作者单位1.Peking Univ, Peoples Hosp, Beijing 100044, Peoples R China
2.Inst Hematol, Beijing 100044, Peoples R China
3.Univ London Imperial Coll Sci Technol & Med, Haematol Res Ctr, Dept Med, Div Expt Med, London W12 0HS, England
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GB/T 7714
Li, Ning,Yao, Qiu-Mei,Gale, Robert Peter,et al. Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations[J]. LEUKEMIA RESEARCH,2015,39(5):510-514.
APA Li, Ning.,Yao, Qiu-Mei.,Gale, Robert Peter.,Li, Jin-Lan.,Li, Ling-Di.,...&Ruan, Guo-Rui.(2015).Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations.LEUKEMIA RESEARCH,39(5),510-514.
MLA Li, Ning,et al."Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations".LEUKEMIA RESEARCH 39.5(2015):510-514.
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