JAK2V617F Mutation in Patients with Splanchnic Vein Thrombosis

Abstract

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.

The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis

“…We observed a strong association between JAK2 V617F positivity and clinical and laboratory characteristics at the moment of diagnosis of SVT, which is in line with previous reports on the association between JAK2 V617F and elevated peripheral blood cell counts, 8,[22][23][24][25] and that between JAK2 V617F and splenomegaly. 8,23,24 One of these studies also demonstrated an association between JAK2 V617F and altered liver function tests and unfavorable prognostic scores in BCS.…”

Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis

“…7,9,53,60 Follow-up of JAK2V617F-positive MPNs without typical hematologic MPN features was provided in 3 publications, in which 11 of 28 patients (41%) developed characteristic laboratory or morphologic features of MPN, ranging from 0.7 to 7 years after diagnosis of BCS. 51,60,63 MPNs and JAK2V617F in PVT A total of 855 PVT patients were included in the analysis ( Figure 3 Figure 1).…”

“…by guest www.bloodjournal.org From features counts was provided in 4 publications in which 6 of 48 patients (13%) developed characteristic laboratory or morphologic features of MPN, ranging from 1-10 years after diagnosis of PVT. 21,56,60,63 One study described the long-term follow-up of 44 PVT patients with an underlying MPN. 64 Five PV and 2 ET patients developed secondary MF, 3 patients with MF progressed to end-stage MF, and 4 patients developed acute myeloid leukemia after a median period of 9.7 years (range, 1-17 years) after MPN diagnosis.…”

Hemichorea in a patient with JAK2V617F blood cells

“…These patients lack overt signs of an MPN and in some cases have normal BM morphology. 9 More than 50% of such JAK2V617F ϩ patients with splanchnic vein thrombosis eventually develop clinical features of MPN. 10 Based on this report, patients over the age of 50 years presenting with chorea should be tested for JAK2V617F even if they have a normal hematologic profile.…”