Calreticulin mutations in Chinese with primary myelofibrosis

Bing Li; Junqing Xu; Jingya Wang; Robert Peter Gale; Zefeng Xu; Yajuan Cui; Lin Yang; Ruixian Xing; Xiaofei Ai; Tiejun Qin; Yue Zhang; Peihong Zhang; Zhijian Xiao

doi:10.3324/haematol.2014.109249

Haematologica (Nov 2014)

Calreticulin mutations in Chinese with primary myelofibrosis

Bing Li,
Junqing Xu,
Jingya Wang,
Robert Peter Gale,
Zefeng Xu,
Yajuan Cui,
Lin Yang,
Ruixian Xing,
Xiaofei Ai,
Tiejun Qin,
Yue Zhang,
Peihong Zhang,
Zhijian Xiao

Affiliations

Bing Li: MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China
Junqing Xu: MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China
Jingya Wang: MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China
Robert Peter Gale: Haematology Research Center, Division of Experimental Medicine, Department of Medicine, Imperial College London, UK
Zefeng Xu: MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China
Yajuan Cui: MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China
Lin Yang: State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China
Ruixian Xing: MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China
Xiaofei Ai: Molecular Diagnostic Laboratory, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China
Tiejun Qin: MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China
Yue Zhang: MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China;State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China
Peihong Zhang: Department of Pathology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China
Zhijian Xiao: MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China;State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China

DOI: https://doi.org/10.3324/haematol.2014.109249
Journal volume & issue: Vol. 99, no. 11

Abstract

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We tested 357 Chinese with primary myelofibrosis for mutations in CALR, JAK2 and MPL. CALR mutations were detected in 76 subjects (21%). There were 24 (32%) type-1 (L367fs*46) and 49 (64%) type-2 (K385fs*47) mutations. Seventy-two of 168 subjects (43%) without a JAK2 or MPL mutation had a CALR mutation. Subjects with a type-2 CALR mutation had lower hemoglobin concentrations (P=0.001), lower WBC counts (P

Published in Haematologica

ISSN: 0390-6078 (Print); 1592-8721 (Online)
Publisher: Ferrata Storti Foundation
Country of publisher: Italy
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the blood and blood-forming organs
Website: http://www.haematologica.org

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