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.
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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.
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