Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2V617F or MPL mutations

被引:16
|
作者
Li, Ning [1 ,2 ]
Yao, Qiu-Mei [1 ,2 ]
Gale, Robert Peter [3 ]
Li, Jin-Lan [1 ,2 ]
Li, Ling-Di [1 ,2 ]
Zhao, Xiao-Su [1 ,2 ]
Jiang, Hao [1 ,2 ]
Jiang, Qian [1 ,2 ]
Jiang, Bin [1 ,2 ]
Shi, Hong-Xia [1 ,2 ]
Chen, Shan-Shan [1 ,2 ]
Liu, Kai-Yan [1 ,2 ]
Huang, Xiao-Jun [1 ,2 ]
Ruan, Guo-Rui [1 ,2 ]
机构
[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
基金
中国国家自然科学基金; 高等学校博士学科点专项科研基金;
关键词
Calreticulin; Mutation; Myeloproliferative neoplasm; Allele burden; JAK2 V617F MUTATION; MYELOPROLIFERATIVE NEOPLASMS; POLYCYTHEMIA-VERA; W515L/K MUTATIONS; JAK2V617F; CALRETICULIN; DISORDERS; FEATURES; SUBTYPES;
D O I
10.1016/j.leukres.2015.02.006
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
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.
引用
收藏
页码:510 / 514
页数:5
相关论文
共 50 条
  • [21] Consequences of the JAK2V617F allele burden for the prediction of transformation into myelofibrosis from polycythemia vera and essential thrombocythemia
    Shuichi Shirane
    Marito Araki
    Soji Morishita
    Yoko Edahiro
    Yoshitaka Sunami
    Yumi Hironaka
    Masaaki Noguchi
    Michiaki Koike
    Eriko Sato
    Akimichi Ohsaka
    Norio Komatsu
    International Journal of Hematology, 2015, 101 : 148 - 153
  • [22] JAK2, MPL, and CALR mutations in children with essential thrombocythemia
    Sekiya, Yuko
    Okuno, Yusuke
    Muramatsu, Hideki
    Ismael, Olfat
    Kawashima, Nozomu
    Narita, Atsushi
    Wang, Xinan
    Xu, Yinyan
    Hama, Asahito
    Fujisaki, Hiroyuki
    Imamura, Toshihiko
    Hasegawa, Daiichiro
    Kosaka, Yoshiyuki
    Sunami, Shosuke
    Ohtsuka, Yoshitoshi
    Ohga, Shouichi
    Takahashi, Yoshiyuki
    Kojima, Seiji
    Shimada, Akira
    INTERNATIONAL JOURNAL OF HEMATOLOGY, 2016, 104 (02) : 266 - 267
  • [23] JAK2, MPL, and CALR mutations in children with essential thrombocythemia
    Yuko Sekiya
    Yusuke Okuno
    Hideki Muramatsu
    Olfat Ismael
    Nozomu Kawashima
    Atsushi Narita
    Xinan Wang
    Yinyan Xu
    Asahito Hama
    Hiroyuki Fujisaki
    Toshihiko Imamura
    Daiichiro Hasegawa
    Yoshiyuki Kosaka
    Shosuke Sunami
    Yoshitoshi Ohtsuka
    Shouichi Ohga
    Yoshiyuki Takahashi
    Seiji Kojima
    Akira Shimada
    International Journal of Hematology, 2016, 104 : 266 - 267
  • [24] Detection of CALR gene mutations in JAK2V617F and MPL unmutated chronic myeloproliferative neoplasms
    Strnad, Milica
    Todoric-Zivanovic, Biljana
    Atanaskovic, Lavinika
    Elez, Marija
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1041 - 1041
  • [25] JAK2V617F allele burden is associated with transformation to myelofibrosis
    Koren-Michowitz, Maya
    Landman, Joseph
    Cohen, Yoram
    Rahimi-Levene, Naomi
    Salomon, Ophira
    Michael, Maria
    Amariglio, Ninette
    Nagler, Arnon
    LEUKEMIA & LYMPHOMA, 2012, 53 (11) : 2210 - 2213
  • [26] POMALIDOMIDE IN MYELOFIBROSIS: LONG TERM FOLLOW UP AND CORRELATION WITH JAK2V617F AND CALR MUTATIONS
    Begna, K.
    Animesh, P.
    Litzow, M.
    Hanson, C.
    Mesa, R.
    Hogan, W.
    Tefferi, A.
    HAEMATOLOGICA, 2014, 99 : 392 - 392
  • [27] Concurrent MPL515 and JAK2V617F mutations in myelofibrosis:: chronology of clonal emergence and changes in mutant allele burden over time
    Lasho, Terra L.
    Pardanani, Animesh
    McClure, Rebecca F.
    Mesa, Ruben A.
    Levine, Ross L.
    Gilliland, D. Gary
    Tefferi, Ayalew
    BRITISH JOURNAL OF HAEMATOLOGY, 2006, 135 (05) : 683 - 687
  • [28] Coexisting JAK2V617F and CALR Exon 9 Mutation in Essential Thrombocythemia
    Munazza Rashid
    Rifat Zubair Ahmed
    Shariq Ahmed
    Muhammad Nadeem
    Nuzhat Ahmed
    Tahir Sultan Shamsi
    Indian Journal of Hematology and Blood Transfusion, 2016, 32 : 112 - 116
  • [29] HIGH FREQUENCY OF MPL MUTATIONS AMONG PATIENTS WITH JAK2V617F-NEGATIVE ESSENTIAL THROMBOCYTHEMIA AND PRIMARY MYELOFIBROSIS SELECTED BY THE PRESENCE OF ENDOGENOUS MEGAKARYOCYTIC COLONY
    Mondet, J.
    Carillo, S.
    Bulabois, C. E.
    Cony-Makhoul, P.
    Corm, S.
    Polack, B.
    Cahn, J. Y.
    Mossuz, P.
    HAEMATOLOGICA, 2012, 97 : 374 - 374
  • [30] Coexisting JAK2V617F and CALR Exon 9 Mutation in Essential Thrombocythemia
    Rashid, Munazza
    Ahmed, Rifat Zubair
    Ahmed, Shariq
    Nadeem, Muhammad
    Ahmed, Nuzhat
    Shamsi, Tahir Sultan
    INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION, 2016, 32 : S112 - S116