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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 (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 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 Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted November 27, 2007 Accepted January 29, 2008 The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis. A report on 241 cases Jean-Jacques Kiladjian*, Francisco Cervantes, Franck W.G. Leebeek, Christophe Marzac, Bruno Cassinat, Sylvie Chevret, Dominique Cazals-Hatem, Aurelie Plessier, Juan-Carlos Garcia-Pagan, Sarwa Darwish Murad, Sebastian Raffa, Harry L.A. Janssen, Claude Gardin, Sophie Cereja, Carole Tonetti, Stephane Giraudier, Bertrand Condat, Nicole Casadevall, Pierre Fenaux, and Dominique C. Valla Hematologie Clinique, AP-HP (Assistance Publique-Hopitaux de Paris), Hopital Avicenne; Paris 13 University, Bobigny, France Hematology Department, Hospital Clinic,IDIBAPS, University of Barcelona, Barcelona, Spain Department of Hematology, Erasmus University Medical Center, Rotterdam, Netherlands Laboratoire d'Hematologie, AP-HP, Hopital Saint-Antoine, Paris, France Unite de Biologie Cellulaire, AP-HP, Hopital Saint-Louis, Paris, France DBIM, AP-HP, Hopital Saint-Louis, Paris, France Anatomie Pathologique, AP-HP, Hopital Beaujon, Clichy, France Department of Hepatology, AP-HP, Hopital Beaujon; Universite Denis Diderot - Paris 7; INSERM U773, Clichy, France Hepatic Hemodynamic Lab, Liver Unit Hospital Clinic, IDIBAPS and Ciberehd, Barcelona, Spain Department of Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam, Netherlands Laboratoire d'Hematologie, AP-HP, Hopital Henri Mondor, Creteil, France INSERM, U790, Institut Gustave Roussy, Paris, France * Corresponding author; email: jean-jacques.kiladjian{at}avc.aphp.fr. Background: Myeloproliferative diseases (MPD) represent the commonest cause of splanchnic vein thrombosis (SVT), including Budd-Chiari Syndrome (BCS) and portal venous system thrombosis (PVT). In such patients, MPD diagnosis using conventional criteria is hampered by changes secondary to portal hypertension, while the influence of underlying MPD in the outcome of BCS and PVT remains unclear. Objective: We assessed the diagnostic and prognostic value of JAK2 mutations including V617F and exon 12 mutations, and MPL515 mutations in 241 SVT patients (104 BCS, 137 PVT) without cirrhosis or malignancy. Results: 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 changes specific for MPD and endogenous erythoid colonies, but also in 58% of those with only one of these features, and in 7% of those with neither feature. Stratifying diagnosis firstly on JAK2V617F detection would have allowed MPD diagnosis without need for bone marrow investigations in 40% of the patients. Presence of underlying MPD had no prognostic influence on PVT but, in BCS, carried significantly poorer baseline prognostic features, required hepatic decompression procedures earlier, although it had no impact on 5-yr survival rates. Conclusions: Our results suggest that JAK2V617F testing should replace bone marrow investigations as initial test for MPD in patients with BCS and PVT. 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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