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学科主题: 临床医学
题名:
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations
作者: 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
发表日期: 2015-05-01
DOI: 10.1016/j.leukres.2015.02.006
卷: 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
所属项目编号: 2013CB733701 ; 81230013 ; 81170484 ; 7122199 ; 20130001110079
项目资助者: 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
WOS记录号: WOS:000352962100004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53873
Appears in Collections:北京大学第二临床医学院_期刊论文

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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

Recommended Citation:
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.
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