JAK2-Mutation und Thrombose – wann ist ein Screening sinnvoll?

JAK2V617F - Thrombose - Budd-Chiari-Syndrom - Polycythaemia vera - essenzielle Thrombozytose

JAK2V617F - thrombosis - Budd-Chiari syndrome - polycythemia vera - essential thrombocythemia

Literatur

• 1 Austin S K, Lambert J R. The JAK2V167F mutation and thrombosis.  Br J Haematol. 2008;  143 307-320
• 2 Campbell P J, Green A R. The myeloproliferative disorders.  N Engl J Med. 2006;  355 2452-2466
• 3 De Stefano V, Za V, Rossi E. et al . Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: incidence, risk factors, and effect of treatments.  Haematologica. 2008;  93 372-380
• 4 Dentali F, Squizzato A, Brivio L. et al . JAK2V617F mutation for the early diagnosis of Ph- myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis.  Blood. 2009;  113 5617-5623
• 5 Lengfelder E, Petrides P E, Grießhammer M. Polycythaemia Vera (PV). Empfehlungen der Fachgesellschaft zur Diagnostik und Therapie hämatologischer und onkologischer Erkrankungen. www.dgho-onkopedia.de
• 6 Linnemann B, Kraft C, Roskos M. et al . Inferior vena cava thrombosis and its relationship with the JAK2V617F mutation and chronic myeloproliferative disease.  Thromb Res. 2011;  in press
• 7 Lussana F, Caberlon S, Pagani C. et al . Association of V617F JAK2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis: a systemic review.  Thromb Res. 2009;  124 409-417
• 8 Martinelli I, de Stefano V. Rare thrombosis of cerebral, splanchnic and upper-extremity veins. A narrative review.  Thromb Haemost. 2010;  103 1136-1144
• 9 Petrides P E, Grießhammer M, Lengfelder E. Essentielle Thrombozytose. Empfehlungen der Fachgesellschaft zur Diagnostik und Therapie hämatologischer und onkologischer Erkrankungen. www.dgho-onkopedia.de
• 10 Quintás-Cardama A, Kantarjian H, Cortes J. et al . Janus kinase inhibitors for the treatment of myeloproliferative neoplasms and beyond.  Nat Rev Drug Discov. 2011;  10 127-140
• 11 Scott L M, Tong W, Levine R L. et al . JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.  N Engl J Med. 2007;  356 459-468
• 12 Smith C A, Fan G. The saga of JAK2 mutations and translocations in hematologic disorders: pathogenesis, diagnostic and therapeutic prospects, and revised World Health Organization diagnostic criteria for myeloproliferative neoplasms.  Human Pathol. 2008;  39 795-810
• 13 Vanucchi A M, Antonioli E, Guglielmelli P. et al . Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia.  Blood. 2007;  110 840-846
• 14 Xavier S G, Gadelha T, Rezende S M. et al . JAK2V617F mutation in patients with thrombosis: to screen or not to screen?.  Int J Lab Hematol. 2011;  33 117-124
• 15 Xu X, Zhang Q, Luo J. et al . JAK2(V617F): prevalence in a large Chinese hospital population.  Blood. 2007;  109 339-342