Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter to the Editor
  • Published:

JAK2V617F prevalence and allele burden in non-splanchnic venous thrombosis in the absence of overt myeloproliferative disorder

Leukemia volume 21, pages 1828–1829 (2007)Cite this article

The clinical course of polycythemia vera (PV) or essential thrombocythemia (ET) patients is frequently complicated by thrombohemorrhagic episodes, and the major goal of therapy is prevention and/or treatment of these complications. In early 2005, several groups virtually simultaneously reported the presence of a specific activating mutation (JAK2V617F) in the JH2 domain of JAK2 kinase in several myeloproliferative disorders (MPD); allelic frequency is estimated at above 90% for PV and 50% for both ET and primary myelofibrosis.1 Although the role of JAK2V617F in the development of thrombosis in MPD patients remains to be precisely elucidated, early data in PV suggest an association between JAK2V617F allele burden determined at the time of diagnosis, and the risk of developing major thrombosis (AM Vannucchi et al., Blood 2006; 108: abstract 5). Similarly, some studies in ET have reported a higher rate of venous thromboses in JAK2V617F-positive patients as compared to those harboring wild-type JAK2.2

More recently, JAK2V617F has been detected in a significant proportion (31–59%) of patients presenting with splanchnic vein thrombosis.3, 4, 5 In this setting, JAK2V617F represents a sensitive marker for ‘latent’ or ‘occult’ MPD (that is, MPD not identifiable on the basis of conventional clinical-hematological parameters), with a subset of patients subsequently developing clinically overt MPD.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. Vizmanos JL, Ormazabal C, Larrayoz MJ, Cross NC, Calasanz MJ . JAK2 V617F mutation in classic chronic myeloproliferative diseases: a report on a series of 349 patients. Leukemia 2006; 20: 534–535.

    Article  CAS  PubMed  Google Scholar 

  2. Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 2005; 366: 1945–1953.

    Article  CAS  PubMed  Google Scholar 

  3. Boissinot M, Lippert E, Girodon F, Dobo I, Fouassier M, Masliah C et al. Latent myeloproliferative disorder revealed by the JAK2-V617F mutation and endogenous megakaryocytic colonies in patients with splanchnic vein thrombosis. Blood 2006; 108: 3223–3224.

    Article  CAS  PubMed  Google Scholar 

  4. Patel RK, Lea NC, Heneghan MA, Westwood NB, Milojkovic D, Thanigaikumar M et al. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology 2006; 130: 2031–2038.

    Article  CAS  PubMed  Google Scholar 

  5. Primignani M, Barosi G, Bergamaschi G, Gianelli U, Fabris F, Reati R et al. Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis. Hepatology 2006; 44: 1528–1534.

    Article  CAS  PubMed  Google Scholar 

  6. Levine RL, Belisle C, Wadleigh M, Zahrieh D, Lee S, Chagnon P et al. X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis. Blood 2006; 107: 4139–4141.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Remacha AF, Estivill C, Sarda MP, Mateo J, Souto JC, Canals C et al. The V617F mutation of JAK2 is very uncommon in patients with thrombosis. Haematologica 2007; 92: 285–286.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA

    A Pardanani, T L Lasho, S Schwager, C Finke, K Hussein, R K Pruthi & A Tefferi

Authors
  1. A Pardanani
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. T L Lasho
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. S Schwager
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. C Finke
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. K Hussein
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. R K Pruthi
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. A Tefferi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to A Tefferi.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Pardanani, A., Lasho, T., Schwager, S. et al. JAK2V617F prevalence and allele burden in non-splanchnic venous thrombosis in the absence of overt myeloproliferative disorder. Leukemia 21, 1828–1829 (2007). https://doi.org/10.1038/sj.leu.2404710

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.leu.2404710

This article is cited by

Search

Advanced search

Quick links