JAK2 p.V617F Variants in Non-Blood DNA from Patients with Polycythemia Vera

被引:0
作者
Mori, Naoki [1 ,2 ]
Ohwashi-Miyazaki, Mari [1 ]
Yoshinaga, Kentaro [1 ]
Shiseki, Masayuki [1 ]
Tanaka, Junji [1 ]
机构
[1] Tokyo Womens Med Univ, Dept Hematol, Shinjuku Ku, Tokyo, Japan
[2] Int Univ Hlth & Welf, Narita Hosp, Dept Neurol, Narita, Japan
关键词
Polycythemia vera; Essential thrombocythemia; JAK2 p.V617F mutation; TYROSINE KINASE JAK2; MUTATION; PREDISPOSITION;
D O I
10.4274/tjh.galenos.2023.2023-0159
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:220 / 222
页数:3
相关论文
共 9 条
[1]   Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders [J].
Baxter, EJ ;
Scott, LM ;
Campbell, PJ ;
East, C ;
Fourouclas, N ;
Swanton, S ;
Vassiliou, GS ;
Bench, AJ ;
Boyd, EM ;
Curtin, N ;
Scott, MA ;
Erber, WN ;
Green, AR .
LANCET, 2005, 365 (9464) :1054-1061
[2]   Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia [J].
Doisaki, Sayoko ;
Muramatsu, Hideki ;
Shimada, Akira ;
Takahashi, Yoshiyuki ;
Mori-Ezaki, Makiko ;
Sato, Masanori ;
Kawaguchi, Hiroyuki ;
Kinoshita, Akitoshi ;
Sotomatsu, Manabu ;
Hayashi, Yasuhide ;
Furukawa-Hibi, Yoko ;
Yamada, Kiyofumi ;
Hoshino, Hideaki ;
Kiyoi, Hitoshi ;
Yoshida, Nao ;
Sakaguchi, Hirotoshi ;
Narita, Atsushi ;
Wang, Xinan ;
Ismael, Olfat ;
Xu, Yinyan ;
Nishio, Nobuhiro ;
Tanaka, Makito ;
Hama, Asahito ;
Koike, Kenichi ;
Kojima, Seiji .
BLOOD, 2012, 120 (07) :1485-1488
[3]   Characterization of myeloproliferative neoplasms in the paediatric and young adult population [J].
Harris, Zoey ;
Kaizer, Hannah ;
Wei, Aria ;
Karantanos, Theodoros ;
Williams, Donna M. ;
Chaturvedi, Shruti ;
Jain, Tania ;
Resar, Linda ;
Moliterno, Alison R. ;
Braunstein, Evan M. .
BRITISH JOURNAL OF HAEMATOLOGY, 2023, 201 (03) :449-458
[4]   A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera [J].
James, C ;
Ugo, V ;
Le Couédic, JP ;
Staerk, J ;
Delhommeau, F ;
Lacout, C ;
Garçon, L ;
Raslova, H ;
Berger, R ;
Bennaceur-Griscelli, A ;
Villeval, JL ;
Constantinescu, SN ;
Casadevall, N ;
Vainchenker, W .
NATURE, 2005, 434 (7037) :1144-1148
[5]   Inherited predisposition to myeloproliferative neoplasms [J].
Jones, Amy V. ;
Cross, Nicholas C. P. .
THERAPEUTIC ADVANCES IN HEMATOLOGY, 2013, 4 (04) :237-253
[6]   A germline JAK2 SNP is associated with predisposition to the development of JAK2V617F-positive myeloproliferative neoplasms [J].
Kilpivaara, Outi ;
Mukherjee, Semanti ;
Schram, Alison M. ;
Wadleigh, Martha ;
Mullally, Ann ;
Ebert, Benjamin L. ;
Bass, Adam ;
Marubayashi, Sachie ;
Heguy, Adriana ;
Garcia-Manero, Guillermo ;
Kantarjian, Hagop ;
Offit, Kenneth ;
Stone, Richard M. ;
Gilliland, D. Gary ;
Klein, Robert J. ;
Levine, Ross L. .
NATURE GENETICS, 2009, 41 (04) :455-459
[7]   A gain-of-function mutation of JAK2 in myeloproliferative disorders [J].
Kralovics, R ;
Passamonti, F ;
Buser, AS ;
Teo, S ;
Tiedt, R ;
Passweg, JR ;
Tichelli, A ;
Cazzola, M ;
Skoda, RC .
NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (17) :1779-1790
[8]   Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis [J].
Levine, RL ;
Wadleigh, M ;
Cools, J ;
Ebert, BL ;
Wernig, G ;
Huntly, BJP ;
Boggon, TJ ;
Wlodarska, L ;
Clark, JJ ;
Moore, S ;
Adelsperger, J ;
Koo, S ;
Lee, JC ;
Gabriel, S ;
Mercher, T ;
D'Andrea, A ;
Fröhling, S ;
Döhner, K ;
Marynen, P ;
Vandenberghe, P ;
Mesa, RA ;
Tefferi, A ;
Griffin, JD ;
Eck, MJ ;
Sellers, WR ;
Meyerson, M ;
Golub, TR ;
Lee, SJ ;
Gilliland, DG .
CANCER CELL, 2005, 7 (04) :387-397
[9]   Germline JAK2 Mutation in a Family with Hereditary Thrombocytosis [J].
Mead, Adam J. ;
Rugless, Michelle J. ;
Jacobsen, Sten Eirik W. ;
Schuh, Anna .
NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (10) :967-969