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Blood, 15 September 2005, Vol. 106, No. 6, pp. 2162-2168. Prepublished online as a Blood First Edition Paper on May 26, 2005; DOI 10.1182/blood-2005-03-1320. This Article Full Text (PDF) All Versions of this Article: 2005-03-1320v1 106/6/2162    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Jones, A. V Articles by Cross, N. C Search for Related Content PubMed PubMed Citation Articles by Jones, A. V Articles by Cross, N. C Related Collections Related Letters in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted March 31, 2005 Accepted May 16, 2005 Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders Amy V Jones, Sebastian Kreil, Katerina Zoi, Katherine Waghorn, Claire Curtis, Lingyan Zhang, Joannah Score, Rachel Seear, Andrew J Chase, Francis H Grand, Helen White, Christine Zoi, Dimitris Loukopoulos, Evangelos Terpos, Elisavet-Christine Vervessou, Beate Schultheis, Michael Emig, Thomas Ernst, Eva Lengfelder, Rudiger Hehlmann, Andreas Hochhaus, David Oscier, Richard T Silver, Andreas Reiter, and Nicholas C Cross* Wessex Regional Genetics Laboratory, UK and Human Genetics Division, University of Southampton, Salisbury, United Kingdom Foundation of Biomedical Research of Academy of Athens, Athens, Greece General Airforce Hospital, Athens, Greece "Errikos Dynan" Athens General Hospital, Athens, Greece III. Medizinische Universitatsklinik, Fakultat fur Klinische Medizin Mannheim der Universitat Heidelberg, Mannheim, Germany Royal Bournemouth Hospital, Bournemouth, United Kingdom Weill Medical College of Cornell University, New York, NY, USA * Corresponding author; email: ncpc{at}soton.ac.uk. The analysis of rare chromosomal translocations in myeloproliferative disorders has highlighted the importance of aberrant tyrosine kinase signalling in the pathogenesis of these diseases. Here we have investigated samples from 679 patients and controls for the non-receptor tyrosine kinase JAK2 V617F mutation. Of the 480 MPD samples, the proportion of positive cases per disease subtype was atypical or unclassified MPD 30/152 (20%), idiopathic hypereosinophilic syndrome 2/134 (2%), polycythemia vera 58/72 (81%), essential thrombocythemia 24/59 (41%) and idiopathic myelofibrosis 15/35 (43%). V617F was not identified in patients with systemic mastocytosis (n=28), chronic or acute myeloid leukemia (n=35), secondary erythrocytosis (n=4) or normal controls (n=160). Homozygosity for V617F was seen in 43% of mutant samples and closely correlated with chromosome 9p uniparental disomy. Homozygosity was significantly less common in ET compared to other MPD subtypes. In 53 cases analysed, the median level of PRV1 expression was significantly higher in V617F positive cases compared to cases without the mutation. We conclude that V617F is widespread in MPDs. Detection of this acquired mutation is likely to have a major impact on the way MPD patients are diagnosed, as well as serving as an obvious target for signal transduction therapy. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? 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