Absence of JAK2-V617F in paroxysmal nocturnal haemoglobinuria-associated thrombosis

Marc Fouassier; François Girodon; Cédric Cleyrat; Nelly Robillard; Richard Garand; Sylvie Hermouet

doi:10.1160/TH09-03-0140

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2009; 102(01): 180-182
DOI: 10.1160/TH09-03-0140

Letters to the Editor

Schattauer GmbH

Absence of JAK2-V617F in paroxysmal nocturnal haemoglobinuria-associated thrombosis

Marc Fouassier

¹Laboratoire d’Hématologie, Centre Hospitalier Universitaire, Nantes, France

,

François Girodon

²Laboratoire d’Hématologie, Centre Hospitalier Universitaire, Dijon, France

,

Cédric Cleyrat

³INSERM UMR 892, Institut de Biologie, Centre Hospitalier Universitaire, Nantes, France

,

Nelly Robillard

¹Laboratoire d’Hématologie, Centre Hospitalier Universitaire, Nantes, France

,

Richard Garand

¹Laboratoire d’Hématologie, Centre Hospitalier Universitaire, Nantes, France

,

Sylvie Hermouet

¹Laboratoire d’Hématologie, Centre Hospitalier Universitaire, Nantes, France

› Author Affiliations

Abstract

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References

References
1 Kiladjian JJ, Cervantes F, Leebeek GW. et al. The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases. Blood 2008; 111: 4922-4929.
2 Randi ML, Lombardi AM, Capin M. et al. Haemostatic proteins gene polymorphismsin patients with unusual vein thrombosis and Ph- myeloproliferative disorders. Thromb haemost 2007; 98: 702-704.
3 Valla D, Dhumeaux D, Babany G. et al. Hepatic vein thrombosis in paroxysmal nocturnal hemoglobinuria. A spectrum from asymptomatic occlusion of hepatic venules to fatal Budd-Chiari syndrome. Gastroenterology 1987; 93: 569-575.
4 Peffault de Latour R, Mary JY. et al. Paroxysmal nocturnal hemoglobinuria : natural history of disease subcategories. Blood 2008; 112: 3099-3106.
5 Poulou LS, Xila V, Rokas GI. et al. Temporal trends in mortality rates from visceral vein thrombosis in paroxysmal nocturnal haemoglobinuria: An optimistic view. Thromb Haemost 2008; 99: 642-645.
6 Cheung B, Radia D, Pantelidis P. et al. The presence of the JAK2 V617F mutation is associated with a higher haemoglobin and increased risk of thrombosis in essential thrombocythaemia. Br J Haematol 2006; 132: 244-245.
7 Finazzi G, Rambaldi A, Guerini V. et al. Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. Haematologica 2007; 92: 135-136.
8 Ziakas PD. Effect of JAK2 V617F on thrombotic risk in patients with essential thrombocythemia: measuring the uncertain. Haematologica 2008; 93: 1412-1414.
9 Lippert E, Boissinot M, Kralovics R. et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood 2006; 108: 1865-1867.
10 Cazzola M, Passamonti F. Not just clonal expansion of hematopoietic cells, but also activation of their progeny in the pathogenesis of myeloproliferative disorders. Haematologica 2006; 09: 159.
11 Boissinot M, Lippert E, Girodon F. et al. Latent myeloproliferative disorder revealed by the JAK2-V617F mutation in patients with splanchnic vein thrombosis and normal or low hematocrit and platelet counts. Blood 2006; 108: 3223-3224.
12 Plumé G, Vayá A, Ferrando F. et al. JAK2V617F mutation as a marker of a latent myeloproliferative disorder in a patient with Budd-Chiari syndrome and factor V Leiden mutation. Thromb Haemost 2007; 98: 681-682.
13 Boissinot M, Garand R, Hamidou M. et al. The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). Blood 2006; 108: 1781-1782.
14 Wang SA, Pozdnyakova O, Jorgensen JL. et al. Detection of paroxysmal nocturnal hemoglobinuria clones in patients with myelodysplastic syndromes and related bone marrow diseases, with emphasis on diagnosis pitfalls and caveats. Haematologica 2009; 94: 29-37.
15 Parker C, Omine M, Richards S. et al. International PNH Interest Group. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood 2005; 106: 3699-3709.
16 Brodsky RA. Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria. Blood Rev 2008; 22: 65-74.
17 Li S, Kralovics R, De Libero G, Theocharides A. et al. Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations. Blood 2008; 111: 3863-3866.
18 Wanachiwanawin W, Siripanyaphinyo U, Piyawattanasakul N. et al. A cohort study of the nature of paroxysmal nocturnal hemoglobinuria clones and PIG-A mutations in patients with aplastic anemia. Eur J Haematol 2006; 76: 502-509.
19 Trauslen A, Pacheco JM, Dingli D. On the origin of multiple mutant clones in paroxysmal nocturnal hemoglobinuria. Stem Cells 2007; 25: 3081-3084.
20 Kralovics R. Genetic complexity of myeloproliferative neoplasms. Leukemia 2008; 22: 1841-1848.
21 Meletis J, Terpos E, Samarkos M. et al. Detection of CD55 and/or CD59 deficient red cell populations in patients with aplastic anaemia, myelodysplastic syndromes and myeloproliferative disorders. Haematologia (Budap) 2001; 31: 7-16.
22 Kralovics R, Teo SS, Buser AS. et al. Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. Blood 2005; 106: 3374-3376.
23 Ploug M, Plesner T, Rønne E. et al. The receptor for urokinase-type plasminogen activator is deficient on peripheral blood leukocytes in patients with paroxysmal nocturnal hemoglobinuria. Blood 1992; 79: 1447-1455.
24 Rother RP, Bell L, Hillmen P. et al. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease. J Am Med Assoc 2005; 293: 1653-1662.
25 Hugel B, Socié G, Vu T. et al. Elevated levels of circulating procoagulant microparticles in patients with paroxysmal nocturnal hemoglobinuria and aplastic anemia. Blood 1999; 93: 3451-3456.
26 Maroney SA, Cunningham AC, Ferrel J. et al. A GPI-anchored co-receptor for tissue factor pathway inhibitor controls its intracellular trafficking and cell surface expression. J Thromb Haemost 2006; 04: 1114-1124.