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Blood, 15 May 2008, Vol. 111, No. 10, pp. 4922-4929. Prepublished online as a Blood First Edition Paper on February 4, 2008; DOI 10.1182/blood-2007-11-125328. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2007-11-125328v1 111/10/4922    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 Kiladjian, J.-J. Articles by Valla, D. C. Search for Related Content PubMed PubMed Citation Articles by Kiladjian, J.-J. Articles by Valla, D. C. Related Collections Hemostasis, Thrombosis, and Vascular Biology Neoplasia Free Research Articles Clinical Trials and Observations Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL TRIALS AND OBSERVATIONS The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases Jean-Jacques Kiladjian1, Francisco Cervantes2, Franck W. G. Leebeek3, Christophe Marzac4, Bruno Cassinat5, Sylvie Chevret6, Dominique Cazals-Hatem7, Aurélie Plessier8, Juan-Carlos Garcia-Pagan9, Sarwa Darwish Murad10, Sebastian Raffa9, Harry L. A. Janssen10, Claude Gardin1, Sophie Cereja1, Carole Tonetti11, Stéphane Giraudier11, Bertrand Condat8, Nicole Casadevall4,12, Pierre Fenaux1, and Dominique C. Valla8 1 Assistance Publique-Hôpitaux de Paris, Hôpital Avicenne, Service d'Hématologie Clinique, and Université Paris 13, Bobigny, France; 2 Hematology Department, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sanyer (IDIBAPS), University of Barcelona, Barcelona, Spain; 3 Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands; 4 Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Laboratoire d'Hématologie, Paris, France; 5 Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, Unite de Biologie Cellulaire, Paris, France; 6 Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, DBIM, Paris, France; 7 Assistance Publique-Hôpitaux de Paris, Hôpital Beaujon, Anatomie Pathologique, Clichy, France; 8 Assistance Publique-Hôpitaux de Paris, Hôpital Beaujon, Department of Hepatology, Clichy, Université Denis Diderot, Paris 7, Paris, France, and Inserm U773, Clichy, France; 9 Hepatic Hemodynamic Laboratory, Liver Unit Hospital Cliníc, IDIBAPS, and Ciberehd, Barcelona, Spain; 10 Department of Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam, The Netherlands; 11 Assistance Publique-Hôpitaux de Paris, Hôpital Henri Mondor, Laboratoire d'Hématologie, Créteil, France; and 12 Inserm U790, Institut Gustave Roussy, Villejuif, France Myeloproliferative diseases (MPDs) represent the commonest cause of splanchnic vein thrombosis (SVT), including Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT), but their diagnosis is hampered by changes secondary to portal hypertension, while their influence in the outcome of SVT remains unclear. We assessed the diagnostic and prognostic value of JAK2 and MPL515 mutations in 241 SVT patients (104 BCS, 137 PVT). JAK2V617F was found in 45% of BCS and 34% of PVT, while JAK2 exon 12 and MPL515 mutations were not detected. JAK2V617F was found in 96.5% of patients with bone marrow (BM) changes specific for MPD and endogenous erythoid colonies, but also in 58% of those with only one feature and in 7% of those with neither feature. Stratifying MPD diagnosis first on JAK2V617F detection would have avoided BM investigations in 40% of the patients. In BCS, presence of MPD carried significantly poorer baseline prognostic features, required hepatic decompression procedures earlier, but had no impact on 5-year survival. Our results suggest that JAK2V617F testing should replace BM investigations as initial test for MPD in patients with SVT. Underlying MPD is associated with severe forms of BCS, but current therapy appears to offset deleterious effects of MPD on the medium-term outcome. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: JAK2V617F: better diagnostic tool than marrow? Hau C. Kwaan Blood 2008 111: 4835-4836. [Full Text] [PDF] This article has been cited by other articles: F. Dentali, A. Squizzato, L. Brivio, L. Appio, L. Campiotti, M. Crowther, A. M. Grandi, and W. Ageno JAK2V617F mutation for the early diagnosis of Ph- myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis Blood, May 28, 2009; 113(22): 5617 - 5623. [Abstract] [Full Text] [PDF] S. Sozer, M. I. Fiel, T. Schiano, M. Xu, J. Mascarenhas, and R. Hoffman The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome Blood, May 21, 2009; 113(21): 5246 - 5249. [Abstract] [Full Text] [PDF] A. M. Vannucchi, P. Guglielmelli, and A. Tefferi Advances in Understanding and Management of Myeloproliferative Neoplasms CA Cancer J Clin, May 1, 2009; 59(3): 171 - 191. [Abstract] [Full Text] [PDF] D-C Valla Budd-Chiari syndrome and veno-occlusive disease/sinusoidal obstruction syndrome Gut, October 1, 2008; 57(10): 1469 - 1478. [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] 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]

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