SEARCH:   Advanced

Blood, 15 May 2006, Vol. 107, No. 10, pp. 4139-4141. Prepublished online as a Blood First Edition Paper on January 24, 2006; DOI 10.1182/blood-2005-09-3900. This Article Full Text (PDF) All Versions of this Article: 2005-09-3900v1 107/10/4139    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 Levine, R. L Articles by Busque, L. Search for Related Content PubMed PubMed Citation Articles by Levine, R. L Articles by Busque, L. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted September 30, 2005 Accepted January 11, 2006 X-inactivation based clonality analysis and quantitative JAK2V617F assessment reveals a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F negative ET and MMM patients with clonal hematopoiesis Ross L Levine, Claude Belisle, Martha Wadleigh, David Zahrieh, Stephanie Lee, Pierre Chagnon, D G Gilliland, and Lambert Busque* Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA Maisonneuve-Rosemont Hospital, University of Montreal, Montreal, PQ, Canada Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA * Corresponding author; email: lbusque.hmr{at}ssss.gouv.qc.ca. The JAK2V617F mutation is present in most patients with polycythemia vera (PV) and in some patients with essential thrombocythemia (ET) and myeloid metaplasia/myelofibrosis (MMM). We sought to investigate the relationship between granulocyte clonality and JAK2V617F allelic ratio. 168 of 190 female patients were informative for a clonality assay at the HUMARA locus; 80% of MMM, 75% of PV, and 67% of ET patients demonstrated clonal granulopoiesis. The JAK2V617F allele was detected by quantitative real-time PCR in 99% of PV, 72% of ET, and 39% of MMM. A correlation between clonality and JAK2V617F allelic ratio was demonstrated for PV (p< 0.0001) but not for ET or MMM (both p >0.6). These data suggest acquisition of the JAK2V617F mutation may be sufficient for the development of PV, but additional genetic events are necessary in ET and MMM. In addition, some ET and MMM patients with clonal granulopoiesis have somatic mutations other than JAK2V617F. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: L. Malcovati, M. G. Della Porta, D. Pietra, E. Boveri, A. Pellagatti, A. Galli, E. Travaglino, A. Brisci, E. Rumi, F. Passamonti, et al. Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis Blood, October 22, 2009; 114(17): 3538 - 3545. [Abstract] [Full Text] [PDF] J. R. Lambert, T. Everington, D. C. Linch, and R. E. Gale In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm Blood, October 1, 2009; 114(14): 3018 - 3023. [Abstract] [Full Text] [PDF] H. Haeno, R. L. Levine, D. G. Gilliland, and F. Michor A progenitor cell origin of myeloid malignancies PNAS, September 29, 2009; 106(39): 16616 - 16621. [Abstract] [Full Text] [PDF] L. Busque, Y. Paquette, L. Mollica, D.-C. Roy, R. L. Levine, and D. G. Gilliland Response: To be skewed or not to be? This is no longer the question Blood, September 10, 2009; 114(11): 2358 - 2359. [Full Text] [PDF] A. Jedidi, C. Marty, C. Oligo, L. Jeanson-Leh, J.-A. Ribeil, N. Casadevall, A. Galy, W. Vainchenker, and J.-L. Villeval Selective reduction of JAK2V617F-dependent cell growth by siRNA/shRNA and its reversal by cytokines Blood, August 27, 2009; 114(9): 1842 - 1851. [Abstract] [Full Text] [PDF] I. Rapado, S. Grande, E. Albizua, R. Ayala, J.-A. Hernandez, M. Gallardo, F. Gilsanz, and J. Martinez-Lopez High Resolution Melting Analysis for JAK2 Exon 14 and Exon 12 Mutations: A Diagnostic Tool for Myeloproliferative Neoplasms J. Mol. Diagn., March 1, 2009; 11(2): 155 - 161. [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] R. L. Levine and D. G. Gilliland Myeloproliferative disorders Blood, September 15, 2008; 112(6): 2190 - 2198. [Abstract] [Full Text] [PDF] A. M. Vannucchi, E. Antonioli, P. Guglielmelli, A. Pancrazzi, V. Guerini, G. Barosi, M. Ruggeri, G. Specchia, F. Lo-Coco, F. Delaini, et al. Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia Blood, August 1, 2008; 112(3): 844 - 847. [Abstract] [Full Text] [PDF] A. M. Vannucchi and P. Guglielmelli Molecular pathophysiology of Philadelphia-negative myeloproliferative disorders: beyond JAK2 and MPL mutations Haematologica, July 1, 2008; 93(7): 972 - 976. [Full Text] [PDF] M. M. Loriaux, R. L. Levine, J. W. Tyner, S. Frohling, C. Scholl, E. P. Stoffregen, G. Wernig, H. Erickson, C. A. Eide, R. Berger, et al. High-throughput sequence analysis of the tyrosine kinome in acute myeloid leukemia Blood, May 1, 2008; 111(9): 4788 - 4796. [Abstract] [Full Text] [PDF] A. Pardanani, B. L. Fridley, T. L. Lasho, D. G. Gilliland, and A. Tefferi Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders Blood, March 1, 2008; 111(5): 2785 - 2789. [Abstract] [Full Text] [PDF] C. James The JAK2V617F Mutation in Polycythemia Vera and Other Myeloproliferative Disorders: One Mutation for Three Diseases? Hematology, January 1, 2008; 2008(1): 69 - 75. [Abstract] [Full Text] [PDF] R. L. Levine and M. Heaney New Advances in the Pathogenesis and Therapy of Essential Thrombocythemia Hematology, January 1, 2008; 2008(1): 76 - 82. [Abstract] [Full Text] [PDF] B. S. Wilkins, W. N. Erber, D. Bareford, G. Buck, K. Wheatley, C. L. East, B. Paul, C. N. Harrison, A. R. Green, and P. J. Campbell Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes Blood, January 1, 2008; 111(1): 60 - 70. [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] G. L. Chen and J. T. Prchal X-linked clonality testing: interpretation and limitations Blood, September 1, 2007; 110(5): 1411 - 1419. [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] L. M. Scott, W. Tong, R. L. Levine, M. A. Scott, P. A. Beer, M. R. Stratton, P. A. Futreal, W. N. Erber, M. F. McMullin, C. N. Harrison, et al. JAK2 Exon 12 Mutations in Polycythemia Vera and Idiopathic Erythrocytosis N. Engl. J. Med., February 1, 2007; 356(5): 459 - 468. [Abstract] [Full Text] [PDF] R. E. Gale, A. J.R. Allen, M. J. Nash, and D. C. Linch Long-term serial analysis of X-chromosome inactivation patterns and JAK2 V617F mutant levels in patients with essential thrombocythemia show that minor mutant-positive clones can remain stable for many years Blood, February 1, 2007; 109(3): 1241 - 1243. [Abstract] [Full Text] [PDF] R. Hoffman and D. Rondelli Biology and Treatment of Primary Myelofibrosis Hematology, January 1, 2007; 2007(1): 346 - 354. [Abstract] [Full Text] [PDF] F. Delhommeau, S. Dupont, C. Tonetti, A. Masse, I. Godin, J.-P. L. Couedic, N. Debili, P. Saulnier, N. Casadevall, W. Vainchenker, et al. Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia vera and idiopathic myelofibrosis Blood, January 1, 2007; 109(1): 71 - 77. [Abstract] [Full Text] [PDF] P. J. Campbell and A. R. Green The Myeloproliferative Disorders N. Engl. J. Med., December 7, 2006; 355(23): 2452 - 2466. [Full Text] [PDF] A. R. Moliterno, D. M. Williams, O. Rogers, and J. L. Spivak Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2 V617F and Mpl expression Blood, December 1, 2006; 108(12): 3913 - 3915. [Abstract] [Full Text] [PDF] A. D. Pardanani, R. L. Levine, T. Lasho, Y. Pikman, R. A. Mesa, M. Wadleigh, D. P. Steensma, M. A. Elliott, A. P. Wolanskyj, W. J. Hogan, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients Blood, November 15, 2006; 108(10): 3472 - 3476. [Abstract] [Full Text] [PDF] T. Ishii, E. Bruno, R. Hoffman, and M. Xu Involvement of various hematopoietic-cell lineages by the JAK2V617F mutation in polycythemia vera Blood, November 1, 2006; 108(9): 3128 - 3134. [Abstract] [Full Text] [PDF] E. Lippert, M. Boissinot, R. Kralovics, F. Girodon, I. Dobo, V. Praloran, N. Boiret-Dupre, R. C. Skoda, and S. Hermouet The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera Blood, September 15, 2006; 108(6): 1865 - 1867. [Abstract] [Full Text] [PDF] C. Lacout, D. F. Pisani, M. Tulliez, F. M. Gachelin, W. Vainchenker, and J.-L. Villeval JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis Blood, September 1, 2006; 108(5): 1652 - 1660. [Abstract] [Full Text] [PDF] R. Kralovics, S.-S. Teo, S. Li, A. Theocharides, A. S. Buser, A. Tichelli, and R. C. Skoda Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders Blood, August 15, 2006; 108(4): 1377 - 1380. [Abstract] [Full Text] [PDF] A. I. Schafer Molecular basis of the diagnosis and treatment of polycythemia vera and essential thrombocythemia Blood, June 1, 2006; 107(11): 4214 - 4222. [Abstract] [Full Text] [PDF] R. L. Levine and G. Wernig Role of JAK-STAT Signaling in the Pathogenesis of Myeloproliferative Disorders Hematology, January 1, 2006; 2006(1): 233 - 239. [Abstract] [Full Text] [PDF] A. Tefferi Classification, Diagnosis and Management of Myeloproliferative Disorders in the JAK2V617F Era Hematology, January 1, 2006; 2006(1): 240 - 245. [Abstract] [Full Text] [PDF]

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