Absence of CALR mutation among a cohort of 394 unselected patients with a first episode of unprovoked venous thromboembolism

 

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^* These two authors contributed equally to this work.

• References

• 1 Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008; 22: 14-22.
  CrossrefPubMedGoogle Scholar
• 2 James C, Ugo V, Le Couedic JP. et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434: 1144-1148.
  CrossrefPubMedGoogle Scholar
• 3 Kralovics R, Passamonti F, Buser AS. et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-1790.
  CrossrefPubMedGoogle Scholar
• 4 Levine RL, Wadleigh M, Cools J. et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005; 07: 387-397.
  CrossrefPubMedGoogle Scholar
• 5 Baxter EJ, Scott LM, Campbell PJ. et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054-1061.
  CrossrefPubMedGoogle Scholar
• 6 Klampfl T, Gisslinger H, Harutyunyan AS. et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med 2013; 369: 2379-2390.
  CrossrefPubMedGoogle Scholar
• 7 Nangalia J, Massie CE, Baxter EJ. et al. Somatic CALR mutations in myelo-proliferative neoplasms with nonmutated JAK2. N Engl J Med 2013; 369: 2391-2405.
  CrossrefPubMedGoogle Scholar
• 8 Rumi E, Pietra D, Ferretti V. et al; Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators.. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood 2014; 123: 1544-1551.
  CrossrefPubMedGoogle Scholar
• 9 Rotunno G, Mannarelli C, Guglielmelli P. et al; Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators.. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood 2014; 123: 1552-1555.
  CrossrefPubMedGoogle Scholar
• 10 Fu R, Xuan M, Zhou Y. et al. Analysis of calreticulin mutations in Chinese patients with essential thrombocythemia: clinical implications in diagnosis, prognosis and treatment. Leukemia 2014; 29: 1912-1914.
  PubMedGoogle Scholar
• 11 Tefferi A, Wassie EA, Guglielmelli P. et al. Type 1 versus Type 2 calreticulin mutations in essential thrombocythemia: A collaborative study of 1027 patients. Am J Hematol 2014; 89: E121-124.
  CrossrefPubMedGoogle Scholar
• 12 Ugo V, Le Gal G, Lecucq L. et al. EDITH Collaborative Study Group.. Prevalence of the JAK2 V617F mutation is low among unselected patients with a first episode of unprovoked venous thromboembolism. J Thromb Haemost 2008; 06: 203-205.
  PubMedGoogle Scholar
• 13 Oger E, Lacut K, Le Gal G. et al. Hyperhomocysteinemia and low B vitamin levels are independently associated with venous thromboembolism: results from the EDITH study: a hospital-based case-control study. J Thromb Haemost 2006; 04: 793-799.
  CrossrefPubMedGoogle Scholar
• 14 Tefferi A, Wassie EA, Lasho TL. et al. Calreticulin mutations and long-term survival in essential thrombocythemia. Leukemia 2014; 28: 2300-2303.
  CrossrefPubMedGoogle Scholar
• 15 Andrikovics H, Krahling T, Balassa K. et al. Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations. Haematologica 2014; 99: 1184-1190.
  CrossrefPubMedGoogle Scholar
• 16 Casini A, Fontana P, Lecompte TP. Thrombotic complications of Myeloproliferative neoplasms: risk assessment and risk-guided management. J Thromb Haemost 2013; 11: 1215-1227.
  CrossrefPubMedGoogle Scholar
• 17 Xavier SG, Gadelha T, Rezende SM. et al. JAK2V617F mutation in patients with thrombosis: to screen or not to screen?. Int J Lab Hematol 2011; 33: 117-124.
  CrossrefPubMedGoogle Scholar
• 18 Sekhar M, McVinnie K, Burroughs AK. Splanchnic vein thrombosis in myeloproliferative neoplasms. Int J Lab Hematol 2011; 33: 117-124.
  CrossrefPubMedGoogle Scholar
• 19 Haslam K, Langabeer SE. Incidence of CALR mutations in patients with splanchnic vein thrombosis. Br J Haematol 2015; 168: 459-460.
  CrossrefPubMedGoogle Scholar
• 20 Roques M, Park JH, Minello A. et al. Detection of CALR mutation in the diagnosis of splanchnic vein thrombosis. Br J Haematol 2015; 169: 601-603.
  CrossrefPubMedGoogle Scholar
• 21 Turon F, Cervantes F, Colomer D. et al. Role of calreticulin mutations in the aetiological diagnosis of splanchnic vein thrombosis. J Hepatol 2015; 62: 72-74.
  CrossrefPubMedGoogle Scholar
• 22 Colaizzo D, Amitrano L, Iannaccone L. et al. Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings. J Med Genet 2007; 44: 412-416.
  CrossrefPubMedGoogle Scholar
• 23 Regina S, Herault O, D’Alteroche L. et al. JAK2 V617F is specifically associated with idiopathic splanchnic vein thrombosis. J Thromb Haemost 2007; 05: 859-861.
  CrossrefPubMedGoogle Scholar
• 24 Remacha AF, Estivill C, Sarda MP. et al. The V617F mutation of JAK2 is very uncommon in patients with thrombosis. Haematologica 2007; 92: 285-286.
  CrossrefPubMedGoogle Scholar
• 25 Rossi D, Cresta S, Destro T. et al. JAK2V617F in idiopathic venous thromboembolism occurring in the absence of inherited or acquired thrombophilia. Br J Haematol 2007; 138: 813-814.
  CrossrefPubMedGoogle Scholar
• 26 Pardanani A, Lasho TL, Hussein K. et al. JAK2V617F mutation screening as part of the hypercoagulable work-up in the absence of splanchnic venous thrombosis or overt myeloproliferative neoplasm: assessment of value in a series of 664 consecutive patients. Mayo Clin Proc 2008; 83: 457-459.
  CrossrefPubMedGoogle Scholar
• 27 Sene D, Elalamy I, Ancri A. et al. JAK2V617F mutation is not associated with unexplained recurrent arterial and venous thrombosis. Thromb Res 2008; 122: 427-428.
  CrossrefPubMedGoogle Scholar
• 28 Za T, Fiorini A, Rossi E. et al. Prevalence of the JAK2 V617F mutation in patients with unprovoked venous thromboembolism of common sites and without overt myeloproliferative neoplasms. Br J Haematol 2009; 144: 965-967.
  CrossrefPubMedGoogle Scholar