The presence of Janus Kinase 2 (JAK2) V617F mutation represents a major diagnostic criterion for detecting myeloproliferative neoplasms (MPN) and even in the absence of overt MPN, JAK2 V617F mutation is associated with splanchnic vein thrombosis.
Since the description of the JAK2-V617F mutation and its finding in patients with splanchnic vein thrombosis without an overt myeloproliferative neoplasm, many groups have studied the prevalence of this mutation in patients with unexplained venous and arterial thrombosis.
JAK2 V617F-positive latent essential thrombocythemia and splanchnic vein thrombosis: the role of bone marrow biopsy for the diagnosis of myeloproliferative disease.
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.