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Blood, 1 December 2007, Vol. 110, No. 12, pp. 4030-4036. Prepublished online as a Blood First Edition Paper on August 21, 2007; DOI 10.1182/blood-2007-07-099184. This Article Full Text Full Text (PDF) Supplemental Appendix All Versions of this Article: blood-2007-07-099184v1 110/12/4030    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 Barosi, G. Articles by Barbui, T. Search for Related Content PubMed PubMed Citation Articles by Barosi, G. Articles by Barbui, T. Related Collections Neoplasia Oncogenes and Tumor Suppressors Clinical Trials and Observations Related Articles in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis Giovanni Barosi1, Gaetano Bergamaschi2, Monia Marchetti1, Alessandro M. Vannucchi3, Paola Guglielmelli3, Elisabetta Antonioli3, Margherita Massa4, Vittorio Rosti5, Rita Campanelli1, Laura Villani1, Gianluca Viarengo6, Elisabetta Gattoni1, Giancarla Gerli7, Giorgina Specchia8, Carmine Tinelli9, Alessandro Rambaldi10, Tiziano Barbui10, for the Gruppo Italiano Malattie Ematologiche Maligne dell'Adulto (GIMEMA) Italian Registry of Myelofibrosis 1 Unit of Clinical Epidemiology and Center for the Study of Myelofibrosis, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S. Matteo Foundation, Pavia; 2 Unit of Clinical Medicine I, IRCCS Policlinico S. Matteo Foundation, Pavia; 3 Department of Hematology, University of Florence, Florence; 4 Laboratory of Biotechnology, IRCCS Policlinico S. Matteo Foundation, Pavia; 5 Transplant Research Area, IRCCS Policlinico S. Matteo Foundation, Pavia; 6 Unit of Clinical Immunology, Immunohematology, and Transfusion Service, IRCCS Policlinico S. Matteo Foundation, Pavia; 7 Division of Hematology, Ospedale San Paolo, Milano; 8 Hematology Department, University of Bari, Bari; 9 Epidemiology and Biometric Unit, IRCCS Policlinico S. Matteo Foundation, Pavia; and 10 Division of Hematology, Ospedali Riuniti di Bergamo, Bergamo, Italy Few investigators have evaluated the usefulness of the JAK2 V617F mutation for explaining the phenotypic variations and for predicting the risk of major clinical events in primary myelofibrosis (PMF). In a transversal survey we assayed by allele-specific polymerase chain reaction (PCR) the JAK2 V617F mutational status in 304 patients with PMF. Multiple DNA samples were collected prospectively from 64 patients, and a highly sensitive quantitative PCR was used as a confirmatory test. In a longitudinal prospective study we determined the progression rate to clinically relevant outcomes in 174 patients who had JAK2 mutation determined at diagnosis. JAK2 V617F was identified in 63.4% of patients. None of the V617F-negative patients who were sequentially genotyped progressed to become V617F positive, whereas progression rate from heterozygous to homozygous mutation was 10 per 100 patient-years. JAK2 V617F mutation contributed to hemoglobin, aquagenic pruritus, and platelet count variability, whereas homozygous mutation was independently associated with higher white blood cell count, larger spleen size, and greater need for cytoreductive therapies. Adjusting for conventional risk factors, V617F mutation independently predicted the evolution toward large splenomegaly, need of splenectomy, and leukemic transformation. We conclude that JAK2 V617F genotype should be considered in any future risk stratification of patients with PMF. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Articles in Blood Online: MPL and JAK2 exon 12 mutations in patients with the Budd-Chiari syndrome or extrahepatic portal vein obstruction Gaetano M. Bergamaschi, Massimo Primignani, Giovanni Barosi, Federica M. Fabris, Laura Villani, Raffaella Reati, Alessandra Dell'Era, and Pier M. Mannucci Blood 2008 111: 4418. [Full Text] [PDF] Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia Alessandro M. Vannucchi, Elisabetta Antonioli, Paola Guglielmelli, Alessandro Rambaldi, Giovanni Barosi, Roberto Marchioli, Rosa Maria Marfisi, Guido Finazzi, Vittoria Guerini, Fabrizio Fabris, Maria Luigia Randi, Valerio De Stefano, Sabrina Caberlon, Agostino Tafuri, Marco Ruggeri, Giorgina Specchia, Vincenzo Liso, Edoardo Rossi, Enrico Pogliani, Luigi Gugliotta, Alberto Bosi, and Tiziano Barbui, for the Italian Group for Malignant Hematologic Disorders of the Adult–Myeloproliferative Disorder Working Party (GIMEMA-MPD WP) Blood 2007 110: 840-846. [Abstract] [Full Text] [PDF] This article has been cited by other articles: 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] G. M. Bergamaschi, M. Primignani, G. Barosi, F. M. Fabris, L. Villani, R. Reati, A. Dell'Era, and P. M. Mannucci MPL and JAK2 exon 12 mutations in patients with the Budd-Chiari syndrome or extrahepatic portal vein obstruction Blood, April 15, 2008; 111(8): 4418 - 4418. [Full Text] [PDF] F. Passamonti, E. Rumi, M. Caramella, C. Elena, L. Arcaini, E. Boveri, C. Del Curto, D. Pietra, L. Vanelli, P. Bernasconi, et al. A dynamic prognostic model to predict survival in post-polycythemia vera myelofibrosis Blood, April 1, 2008; 111(7): 3383 - 3387. [Abstract] [Full Text] [PDF] A. Tefferi Management of Myeloproliferative Neoplasms and the Promise of Targeted Therapy ASCO Educational Book, January 1, 2008; 2008(1): 346 - 348. [Abstract] [Full Text] [PDF]

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