JAK2V617F positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature

Abstract

The present study describes portal vein thrombosis (PVT) in two women as the first and single presenting symptom of latent or masked myeloproliferative disease (MPD). Essential thrombocythemia (ET) was suspected by a sustained increase in platelet count (>400 x 10(9)/l) and slight splenomegaly on echogram. ET could be diagnosed by the presence of large platelet in peripheral blood smear, an increase in clustered large megakaryocytes in bone marrow smear and the presence of the JAK2(V617F) mutation. A subsequent biopsy specimen was consistent with the diagnosis of true ET. In patients with a first episode of splanchnic vein thrombosis (SVT), analysis of any venous thrombophilic risk factors as well as a JAK2(V617F) mutation status indicative for MPD is warranted. Administration of heparin followed by oral anticoagulation with vitamin K antagonists is the treatment of choice in patients with SVT. Anticoagulation therapy combined with low-dose aspirin and proper treatment of the MPD is recommended in patients with SVT associated with the JAK2(V617F) mutation.

Absence of the V617F JAK2 Mutation in the Lymphoid Compartment in a Patient with Essential Thrombo- cythemia and B-Chronic Lymphocytic Leukemia and in Two Relatives with Lymphoproliferative Disorders

“…Regina et al [27], in patients who had developed splanchnic vein thrombosis, pointed out that JAK2 mutation is not detected in subjects for whom bone marrow explorations are negative (bone marrow hyperplasia). These data and the new concept of a latent, very early prefibrotic stage of CMPDs [28] suggest periodic bone marrow histopathology assessment to exclude hidden stages of CMPDs in our patients.…”

Prodromal myeloproliferative neoplasms: The 2008 WHO classification

“…These complications were especially observed, when following the diagnostic criteria of the Polycythemia vera Study Group (PVSG) [5,7,21]. In this context, a number of recent reports have described patients without clinical presentation of overt MPN but a positive JAK2V617F mutation status associated with cerebral or splanchnic vein thrombosis including Budd Chiari syndrome [34][35][36][37][38][39][40][41]. Unfortunately, detailed descriptions of BM findings are mostly lacking in these cases, and therefore, it can only be speculated that a considerable number of these occult MPN represent prodromal stages of the major MPN categories (PV, ET, initial-early stage PMF).…”

JAK2^V617F-Positive Latent Essential Thrombocythemia and Splanchnic Vein Thrombosis: The Role of Bone Marrow Biopsy for the Diagnosis of Myeloproliferative Disease

“…In a recent paper Fiorini et al [18 ]reported that the incidence of JAK2 v617F mutation in 741 cases of SVT was 34%. Moreover, an interesting finding of these studies is the high prevalence of the JAK2 mutation in patients with portal vein thrombosis, whereas the mutation was never found in patients with mesenteric isolated vein thrombosis [19]. …”

“…Nevertheless, screening for the JAK2 V617F mutation could be useful in identifying subgroups of at-risk patients as the presence of JAK2 mutation should be considered per se a prothrombotic state able to influence the decision for long-life anticoagulation. Heparin followed by oral anticoagulation with vitamin K antagonists is the treatment of choice in all patients with SVT [19]. Anticoagulation combined with low-dose aspirin and proper treatment of the MPD is recommended in patients with SVT associated with the JAK2 V617F as a specific marker of MPD.…”