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JAK2V617F Mutation in Patients with Splanchnic Vein Thrombosis

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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.

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Acknowledgments

Nelson Spector is supported by grants from Faperj and CNPq. Ilana Renault Zalcberg is supported by grants from the Swiss Bridge Foundation.

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Authors and Affiliations

  1. Hematology Service, Department of Internal Medicine, University Hospital Clementino Fraga Filho, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil

    Sandra Guerra Xavier, Telma Gadelha, Glicínia Pimenta, Angela Maria Eugenio & Nelson Spector

  2. Department of Medical Propedeutics, Federal University of Minas Gerais Medical School, Belo Horizonte, Brazil

    Sandra Guerra Xavier

  3. Hematology Service, Hospital das Clínicas, Federal University of Minas Gerais, Belo Horizonte, Brazil

    Daniel Dias Ribeiro

  4. Molecular Biology Laboratory, Bone Marrow Transplantation Center (CEMO), Instituto Nacional de Câncer, Rio de Janeiro, Brazil

    Fernanda Mendes Gomes & Ilana Renault Zalcberg

  5. Division of Experimental Medicine, Coordenação de Pesquisa (CPQ), Instituto Nacional de Câncer, Rio de Janeiro, Brazil

    Martin Bonamino

  6. Rua Maria Angélica 326 ap. 501, Rio de Janeiro, 22461-152, Brazil

    Nelson Spector

  7. Rua dos Dominicanos 140/201, Serra, Belo Horizonte, MG, CEP: 30210-480, Brazil

    Sandra Guerra Xavier

  8. Rua Rodolpho Paulo Rocco 255, Hospital Universitário, sala 4A12, Cidade Universitária, Ilha do Fundão, Rio de Janeiro, RJ, CEP: 21941-913, Brazil

    Telma Gadelha, Glicínia Pimenta & Angela Maria Eugenio

  9. Praça da Cruz Vermelha 23, 6° andar, Centro, Rio de Janeiro, RJ, CEP: 20230-130, Brazil

    Fernanda Mendes Gomes & Ilana Renault Zalcberg

  10. Rua André Cavalcanti 37, 6° andar, Centro, Rio de Janeiro, RJ, CEP: 20231-050, Brazil

    Martin Bonamino

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  1. Sandra Guerra Xavier
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Xavier, S.G., Gadelha, T., Pimenta, G. et al. JAK2V617F Mutation in Patients with Splanchnic Vein Thrombosis. Dig Dis Sci 55, 1770–1777 (2010). https://doi.org/10.1007/s10620-009-0933-y

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  • DOI: https://doi.org/10.1007/s10620-009-0933-y

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