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JAK2V617F Mutation in Patients with Splanchnic Vein Thrombosis

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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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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Keywords

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