Digestive Diseases and Sciences

, Volume 55, Issue 6, pp 1770–1777

JAK2V617F Mutation in Patients with Splanchnic Vein Thrombosis

  • Sandra Guerra Xavier
  • Telma Gadelha
  • Glicínia Pimenta
  • Angela Maria Eugenio
  • Daniel Dias Ribeiro
  • Fernanda Mendes Gomes
  • Martin Bonamino
  • Ilana Renault Zalcberg
  • Nelson Spector
Original Article

DOI: 10.1007/s10620-009-0933-y

Cite this article as:
Xavier, S.G., Gadelha, T., Pimenta, G. et al. Dig Dis Sci (2010) 55: 1770. doi:10.1007/s10620-009-0933-y

Abstract

Background

Splanchnic vein thrombosis can be the presenting manifestation of myeloproliferative neoplasms. However, the diagnosis of a myeloproliferative neoplasm in these patients is often problematic, and more objective criteria are needed.

Aim

To determine the frequency of the mutation JAK2V617F in patients with splanchnic vein thromboses.

Methods

A consecutive series of 108 adult patients with portal vein thrombosis (n = 77) and Budd-Chiari syndrome (n = 31) referred for hemostasis evaluation was retrospectively studied, with a median follow-up of 51 months (1–104).

Results

One or more prothrombotic risk factors were present in 63% of the patients. Twenty-four (22%) out of the 108 patients presented the JAK2V617F, including 2 cirrhotic patients. Most had a low mutated allele burden (median 16.5%). JAK2V617F was present in all four patients with a previous diagnosis of a myeloproliferative neoplasm. In nine JAK2V617F-positive patients, the diagnosis of a myeloproliferative neoplasm was made at the thrombosis work-up, during follow-up or after JAK2V617F detection. Among the other 11 patients carrying the mutation, 2 patients have died, 4 had no evidence suggesting a myeloproliferative neoplasm, 1 had a normal bone marrow biopsy, and the other 4 could not be persuaded to undergo a biopsy. Among the patients without an overt myeloproliferative neoplasm, 15 out of 99 (15%) presented the JAK2V617F mutation. None of the JAK2V617F-negative patients have developed signs of a myeloproliferative neoplasm during follow-up.

Conclusions

Our findings suggest that JAK2V617F occurs in a high proportion of patients with splanchnic vein thrombosis, and reinforces the diagnostic utility of JAK2V617F testing in this setting.

Keywords

Budd-Chiari syndrome Portal vein thrombosis Liver cirrhosis Myeloproliferative neoplasms JAK2 Allele burden 

Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Sandra Guerra Xavier
    • 1
    • 2
    • 7
  • Telma Gadelha
    • 1
    • 8
  • Glicínia Pimenta
    • 1
    • 8
  • Angela Maria Eugenio
    • 1
    • 8
  • Daniel Dias Ribeiro
    • 3
  • Fernanda Mendes Gomes
    • 4
    • 9
  • Martin Bonamino
    • 5
    • 10
  • Ilana Renault Zalcberg
    • 4
    • 9
  • Nelson Spector
    • 1
    • 6
  1. 1.Hematology Service, Department of Internal Medicine, University Hospital Clementino Fraga FilhoFederal University of Rio de JaneiroRio de JaneiroBrazil
  2. 2.Department of Medical PropedeuticsFederal University of Minas Gerais Medical SchoolBelo HorizonteBrazil
  3. 3.Hematology Service, Hospital das ClínicasFederal University of Minas GeraisBelo HorizonteBrazil
  4. 4.Molecular Biology Laboratory, Bone Marrow Transplantation Center (CEMO)Instituto Nacional de CâncerRio de JaneiroBrazil
  5. 5.Division of Experimental Medicine, Coordenação de Pesquisa (CPQ)Instituto Nacional de CâncerRio de JaneiroBrazil
  6. 6.Rio de JaneiroBrazil
  7. 7.Belo HorizonteBrazil
  8. 8.Rua Rodolpho Paulo Rocco 255, Hospital Universitário, sala 4A12Cidade UniversitáriaRio de JaneiroBrazil
  9. 9.Rio de JaneiroRJBrazil
  10. 10.Rio de JaneiroBrazil

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