Prevalence and Predictive Factors for JAK2V617F, CALR, and MPL Mutations in Splanchnic Vein Thrombosis

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Published Jun 1, 2025
https://doi.org/10.62438/tunismed.v103i6.5682
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Vol. 103 No. 6 (2025): Tunis Med June 2025

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Ikbel Ghachem
Biology Laboratory, Taher Maamouri Hospital, Nabeul, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia
https://orcid.org/0000-0003-3909-3868
Samira Hadhri
Haematology laboratory and blood bank, Sahloul Hospital, University of Sousse, Sousse, Tunisia
Hadef Skouri
Haematology laboratory and blood bank, Sahloul Hospital, University of Sousse, Sousse, Tunisia

Abstract

Introduction-Aim: Latent myeloproliferative neoplasms (MPNs) have been reported in splanchnic vein thrombosis (SVT). This is the first Tunisian study aimed at evaluating the frequency of JAK2V617F, MPL, and CALR mutations in SVT and analyzing their correlation with hematological parameters


Methods: This study, conducted between 2013 and 2017, included non-malignant and non-cirrhotic SVT cases. JAK2V617F and MPL mutations were detected by real-time PCR, and the CALR mutation was screened by PCR and direct sequencing.


Results: The JAK2V617F mutation was detected in 20.1% of 233 SVT cases, with a significantly higher prevalence in Budd-Chiari syndrome (BCS). MPL and CALR mutations were not detected. The frequency of latent MPN was 36.2% in SVT, 31.7% in portal vein thrombosis, and 66.6% in BCS. Patients with SVT and hemoglobin levels ≥14.5 g/dL in men, 11.4 g/dL in women, Leukocytes count ≥6100/mm³, and platelet count ≥238,000/mm³ could be tested for the JAK2V617F mutation. This strategy avoids 89.5% of unnecessary tests in patients below these thresholds. A platelet count ≥238,000/mm³ was an independent factor correlated with the JAK2V617F mutation and a strong predictor of latent MPN (OR=17.3; 95% CI [2.8-105.1]; p=0.002). Conclusion: Screening for JAK2V617F is useful for diagnosing latent MPNs revealed by SVT, while MPL and CALR mutations are rare and not recommended.

Keywords:

JAK2V617F, MPL, CALR, splanchnic thrombosis, myloproliferative neoplasm

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