SEARCH:   Advanced

Blood, 15 September 2006, Vol. 108, No. 6, pp. 1865-1867. Prepublished online as a Blood First Edition Paper on May 25, 2006; DOI 10.1182/blood-2006-01-013540. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2006-01-013540v1 108/6/1865    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 Lippert, E. Articles by Hermouet, S. Search for Related Content PubMed PubMed Citation Articles by Lippert, E. Articles by Hermouet, S. Related Collections Hematopoiesis and Stem Cells Oncogenes and Tumor Suppressors Signal Transduction Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMATOPOIESIS Brief report The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera Eric Lippert, Marjorie Boissinot, Robert Kralovics, François Girodon, Irène Dobo, Vincent Praloran, Nathalie Boiret-Dupré, Radek C. Skoda, and Sylvie Hermouet From the Laboratoire d'Hématologie du CHU de Bordeaux, France; Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 601 (U601), Nantes, France; the Department of Research, Experimental Hematology, University Hospital Basel, Switzerland; Laboratoire d'Hématologie du CHU de Dijon, France; Laboratoire d'Hématologie du CHU d'Angers, France; Laboratoire d'Hématologie du CHU de Clermont-Ferrand, France; and Laboratoire d'Hématologie du CHU de Nantes, France. We determined the allelic frequency of the JAK2-V617F mutation in DNA and assessed the expression levels of the mutant and wild-type JAK2 mRNA in granulocytes from 60 patients with essential thrombocythemia (ET) and 62 patients with polycythemia vera (PV) at the time of diagnosis. Using allele-specific quantitative polymerase chain reaction (qPCR), we detected JAK2-V617F in 75% of ET and 97% of PV at diagnosis. The total JAK2 mRNA levels were elevated in ET, PV, and secondary and idiopathic erythrocytosis, suggesting that hyperactive hematopoiesis alters JAK2 expression. The expression levels of JAK2-V617F mRNA were variable but strongly correlated with the allelic ratio of JAK2-V617F determined in DNA. Thus, differences in JAK2-V617F expression, markedly lower in ET than in PV, reflected different percentages of granulocytes carrying the mutation. Moreover, allelic ratios higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: J. Thiele Philadelphia Chromosome-Negative Chronic Myeloproliferative Disease Am J Clin Pathol, August 1, 2009; 132(2): 261 - 280. [Abstract] [Full Text] [PDF] F. Girodon, G. Bonicelli, C. Schaeffer, M. Mounier, S. Carillo, I. Lafon, P. M. Carli, I. Janoray, E. Ferrant, and M. Maynadie Significant increase in the apparent incidence of essential thrombocythemia related to new WHO diagnostic criteria: a population-based study Haematologica, June 1, 2009; 94(6): 865 - 869. [Abstract] [Full Text] [PDF] E. Lippert, F. Girodon, E. Hammond, J. Jelinek, N. S. Reading, B. Fehse, K. Hanlon, M. Hermans, C. Richard, S. Swierczek, et al. Concordance of assays designed for the quantification of JAK2V617F: a multicenter study Haematologica, January 1, 2009; 94(1): 38 - 45. [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] F. Girodon, C. Schaeffer, C. Cleyrat, M. Mounier, I. Lafont, F. D. Santos, A. Vidal, M. Maynadie, and S. Hermouet Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy Haematologica, November 1, 2008; 93(11): 1723 - 1727. [Abstract] [Full Text] [PDF] N. Fourouclas, J. Li, D. C. Gilby, P. J. Campbell, P. A. Beer, E. M. Boyd, A. C. Goodeve, D. Bareford, C. N. Harrison, J. T. Reilly, et al. Methylation of the suppressor of cytokine signaling 3 gene (SOCS3) in myeloproliferative disorders Haematologica, November 1, 2008; 93(11): 1635 - 1644. [Abstract] [Full Text] [PDF] C. James, F. Mazurier, S. Dupont, R. Chaligne, I. Lamrissi-Garcia, M. Tulliez, E. Lippert, F.-X. Mahon, J.-M. Pasquet, G. Etienne, et al. The hematopoietic stem cell compartment of JAK2V617F-positive myeloproliferative disorders is a reflection of disease heterogeneity Blood, September 15, 2008; 112(6): 2429 - 2438. [Abstract] [Full Text] [PDF] I. Plo, M. Nakatake, L. Malivert, J.-P. de Villartay, S. Giraudier, J.-L. Villeval, L. Wiesmuller, and W. Vainchenker JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders Blood, August 15, 2008; 112(4): 1402 - 1412. [Abstract] [Full Text] [PDF] H. Bruchova, M. Merkerova, and J. T. Prchal Aberrant expression of microRNA in polycythemia vera Haematologica, July 1, 2008; 93(7): 1009 - 1016. [Abstract] [Full Text] [PDF] P. A. Beer, P. J. Campbell, L. M. Scott, A. J. Bench, W. N. Erber, D. Bareford, B. S. Wilkins, J. T. Reilly, H. C. Hasselbalch, R. Bowman, et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort Blood, July 1, 2008; 112(1): 141 - 149. [Abstract] [Full Text] [PDF] R. Tiedt, H. Hao-Shen, M. A. Sobas, R. Looser, S. Dirnhofer, J. Schwaller, and R. C. Skoda Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice Blood, April 15, 2008; 111(8): 3931 - 3940. [Abstract] [Full Text] [PDF] D. Pietra, S. Li, A. Brisci, F. Passamonti, E. Rumi, A. Theocharides, M. Ferrari, H. Gisslinger, R. Kralovics, L. Cremonesi, et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders Blood, February 1, 2008; 111(3): 1686 - 1689. [Abstract] [Full Text] [PDF] A. H. Schmitt-Graeff, S.-S. Teo, M. Olschewski, F. Schaub, S. Haxelmans, A. Kirn, P. Reinecke, U. Germing, and R. C. Skoda JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis Haematologica, January 1, 2008; 93(1): 34 - 40. [Abstract] [Full Text] [PDF] J. W. Vardiman Integration of Histology and Genetics in the Diagnosis and Classification of Myeloproliferative Neoplasms ASCO Educational Book, January 1, 2008; 2008(1): 339 - 345. [Abstract] [Full Text] [PDF] E. Rumi, F. Passamonti, M. G. Della Porta, C. Elena, L. Arcaini, L. Vanelli, C. Del Curto, D. Pietra, E. Boveri, C. Pascutto, et al. Familial Chronic Myeloproliferative Disorders: Clinical Phenotype and Evidence of Disease Anticipation J. Clin. Oncol., December 10, 2007; 25(35): 5630 - 5635. [Abstract] [Full Text] [PDF] M. J. Percy, L. M. Scott, W. N. Erber, C. N. Harrison, J. T. Reilly, F. G.C. Jones, A. R. Green, and M. F. McMullin The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels Haematologica, December 1, 2007; 92(12): 1607 - 1614. [Abstract] [Full Text] [PDF] G. Barosi, G. Bergamaschi, M. Marchetti, A. M. Vannucchi, P. Guglielmelli, E. Antonioli, M. Massa, V. Rosti, R. Campanelli, L. Villani, et al. JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis Blood, December 1, 2007; 110(12): 4030 - 4036. [Abstract] [Full Text] [PDF] M.-P. Wautier, W. El Nemer, P. Gane, J.-D. Rain, J.-P. Cartron, Y. Colin, C. Le Van Kim, and J.-L. Wautier Increased adhesion to endothelial cells of erythrocytes from patients with polycythemia vera is mediated by laminin {alpha}5 chain and Lu/BCAM Blood, August 1, 2007; 110(3): 894 - 901. [Abstract] [Full Text] [PDF] S. Dupont, A. Masse, C. James, I. Teyssandier, Y. Lecluse, F. Larbret, V. Ugo, P. Saulnier, S. Koscielny, J. P. Le Couedic, et al. The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera Blood, August 1, 2007; 110(3): 1013 - 1021. [Abstract] [Full Text] [PDF] F. Passamonti, M. L. Randi, E. Rumi, E. Pungolino, C. Elena, D. Pietra, M. Scapin, L. Arcaini, F. Tezza, R. Moratti, et al. Increased risk of pregnancy complications in patients with essential thrombocythemia carrying the JAK2 (617V>F) mutation Blood, July 15, 2007; 110(2): 485 - 489. [Abstract] [Full Text] [PDF] A. Theocharides, M. Boissinot, F. Girodon, R. Garand, S.-S. Teo, E. Lippert, P. Talmant, A. Tichelli, S. Hermouet, and R. C. Skoda Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood, July 1, 2007; 110(1): 375 - 379. [Abstract] [Full Text] [PDF] A. L Basquiera, F. Fassetta, N. Soria, J. M. Barral, B. Ricchi, and J. J Garcia Accuracy of leukocyte alkaline phosphatase score to predict JAK2 V617F mutation Haematologica, May 1, 2007; 92(5): 704 - 705. [Abstract] [Full Text] [PDF] E. Hammond, K. Shaw, B. Carnley, S. P'ng, I. James, and R. Herrmann Quantitative Determination of JAK2 V617F by TaqMan: An Absolute Measure of Averaged Copies per Cell That May Be Associated with the Different Types of Myeloproliferative Disorders J. Mol. Diagn., April 1, 2007; 9(2): 242 - 248. [Abstract] [Full Text] [PDF] F. Girodon, E. Lippert, P. Mossuz, I. Dobo, N. Boiret-Dupre, J.-F. Lesesve, S. Hermouet, and V. Praloran JAK2V617F detection and dosage of serum erythropoietin: first steps of the diagnostic work-up for patients consulting for elevated hematocrit Haematologica, March 1, 2007; 92(3): 431 - 432. [Abstract] [Full Text] [PDF] M. Boissinot, E. Lippert, F. Girodon, I. Dobo, M. Fouassier, C. Masliah, V. Praloran, and S. Hermouet Latent myeloproliferative disorder revealed by the JAK2-V617F mutation and endogenous megakaryocytic colonies in patients with splanchnic vein thrombosis. Blood, November 1, 2006; 108(9): 3223 - 3224. [Full Text] [PDF] M. Boissinot, R. Garand, M. Hamidou, and S. Hermouet The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). Blood, September 1, 2006; 108(5): 1781 - 1782. [Full Text] [PDF]

	Copyright © 2006 by American Society of Hematology         Online ISSN: 1528-0020