Scientific Publications

Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.

Publication TypeJournal Article
AuthorsLevine, RL, Wadleigh M., Cools J., Ebert BL, Wernig G., Huntly BJ, Boggon TJ, Wlodarska I., 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 T. R., Lee SJ, and Gilliland DG
AbstractPolycythemia 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.
Year of Publication2005
JournalCancer cell
Volume7
Issue4
Pages387-97
Date Published (YYYY/MM/DD)2005/04/01
ISSN Number1535-6108
DOI10.1016/j.ccr.2005.03.023
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/15837627?dopt=Abstract