Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387–97.
NOTES
Levine, Ross LWadleigh, MarthaCools, JanEbert, Benjamin LWernig, GerlindeHuntly, Brian J PBoggon, Titus JWlodarska, IwonaClark, Jennifer JMoore, SandraAdelsperger, JenniferKoo, SuminLee, Jeffrey CGabriel, StaceyMercher, ThomasD'Andrea, AlanFrohling, StefanDohner, KonstanzeMarynen, PeterVandenberghe, PeterMesa, Ruben ATefferi, AyalewGriffin, James DEck, Michael JSellers, William RMeyerson, MatthewGolub, Todd RLee, Stephanie JGilliland, D GaryengT32 CA009172/CA/NCI NIH HHS/CA66996/CA/NCI NIH HHS/DK50654/DK/NIDDK NIH HHS/Research Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.Cancer Cell. 2005 Apr;7(4):387-97. doi: 10.1016/j.ccr.2005.03.023.
Abstract
Polycythemia vera (PV), essential thrombocythemia (ET), and myeloid metaplasia with myelofibrosis (MMM) are clonal disorders arising from hematopoietic progenitors. An internet-based protocol was used to collect clinical information and biological specimens from patients with these diseases. High-throughput DNA resequencing identified a recurrent somatic missense mutation JAK2V617F in granulocyte DNA samples of 121 of 164 PV patients, of which 41 had homozygous and 80 had heterozygous mutations. Molecular and cytogenetic analyses demonstrated that homozygous mutations were due to duplication of the mutant allele. JAK2V617F was also identified in granulocyte DNA samples from 37 of 115 ET and 16 of 46 MMM patients, but was not observed in 269 normal individuals. In vitro analysis demonstrated that JAK2V617F is a constitutively active tyrosine kinase.
Last updated on 02/17/2021