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Blood, 1 April 2008, Vol. 111, No. 7, pp. 3863-3866. Prepublished online as a Blood First Edition Paper on January 14, 2008; DOI 10.1182/blood-2007-09-111971. This Article Full Text Full Text (PDF) Supplemental Methods, Table, and Figures All Versions of this Article: blood-2007-09-111971v1 111/7/3863    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map 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 Li, S. Articles by Skoda, R. C. Search for Related Content PubMed PubMed Citation Articles by Li, S. Articles by Skoda, R. C. Related Collections Neoplasia Oncogenes and Tumor Suppressors Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Brief Report Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations Sai Li1, Robert Kralovics2, Gennaro De Libero3, Alexandre Theocharides4, Heinz Gisslinger2, and Radek C. Skoda1 1 Department of Research, Experimental Hematology, University Hospital Basel, Basel, Switzerland; 2 Department of Internal Medicine I, Division of Hematology and Blood Coagulation, Medical University of Vienna, and the Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria; 3 Department of Research, Experimental Immunology and 4 Division of Hematology, University Hospital Basel, Basel, Switzerland We studied the lineage distribution of JAK2 mutations in peripheral blood of 8 polycythemia vera (PV) patients with exon 12 mutations and in 21 PV patients with JAK2-V617F. Using a quantitative allele discrimination assay, we detected exon 12 mutations in purified granulocytes, monocytes, and platelets of 8 patients studied, but lymphoid cells showed variable involvement and the mutation was absent in T cells. Endogenous erythroid colonies grew in all patients analyzed. One patient displayed erythroid colonies homozygous for the exon 12 mutation with evidence for mitotic recombination on chromosome 9p. In some patients with exon 12 mutations or JAK2-V617F, a proportion of endogenous erythroid colonies were negative for both JAK2 mutations. One patient carried 2 independent clones: one with an exon 12 mutation and a second with JAK2-V617F. The finding of clonal heterogeneity is compatible with the hypothesis that additional clonal events are involved in the pathogenesis of PV. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: J. H. Ohyashiki, H. Hisatomi, S. Shimizu, M. Sugaya, and K. Ohyashiki Detection of Low Allele Burden of JAK2 Exon 12 Mutations Using TA-cloning in Patients with Erythrocytosis Jpn. J. Clin. Oncol., June 2, 2009; (2009) hyp048v1. [Abstract] [Full Text] [PDF] S. Schnittger, U. Bacher, C. Haferlach, T. Geer, P. Muller, J. Mittermuller, P. Petrides, R. Schlag, R. Sandner, J. Selbach, et al. Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera Haematologica, March 1, 2009; 94(3): 414 - 418. [Abstract] [Full Text] [PDF] F. X. Schaub, R. Jager, R. Looser, H. Hao-Shen, S. Hermouet, F. Girodon, A. Tichelli, H. Gisslinger, R. Kralovics, and R. C. Skoda Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-V617F Blood, February 26, 2009; 113(9): 2022 - 2027. [Abstract] [Full Text] [PDF] A. Theocharides, J. R. Passweg, M. Medinger, R. Looser, S. Li, H. Hao-Shen, A. S. Buser, A. Gratwohl, A. Tichelli, and R. C. Skoda The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders Haematologica, December 1, 2008; 93(12): 1890 - 1893. [Abstract] [Full Text] [PDF] A. V. Jones, N. C.P. Cross, H. E. White, A. R. Green, and L. M. Scott Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis Haematologica, October 1, 2008; 93(10): 1560 - 1564. [Abstract] [Full Text] [PDF]

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