The JAK2^V617F mutation and thrombosis

Abstract

Summary Since the discovery of the JAK2V617F mutation, the clinical and pathological consequences of this acquired defect have been extensively investigated to determine whether its presence characterises a distinct subgroup of myeloproliferative disorders (MPD). MPD management remains highly dependent on the patient’s thrombotic risk. Whether the presence of the JAK2V617F mutation modifies the thrombotic risk is currently contentious, although there is increasing clinical evidence to suggest that the mutation may be variably associated with thrombosis. These observations are further supported by laboratory parameters which suggest that the JAK2V617F mutation may confer increased activation of leucocytes and platelets in MPD. The role of screening for the JAK2V617F mutation in patients presenting with thrombosis without overt MPD is unclear, but appears justified in cases of idiopathic splanchnic vein thrombosis.

Prevalence of overt myeloproliferative neoplasms and JAK2 V617F mutation in Korean patients with splanchnic vein thrombosis

“…Myeloproliferative neoplasm is the most common cause of SVT, and SVT is one of the most serious complications in MPNs. Several studies have revealed that the JAK2 V617F mutation was common in overt MPN patient at the time of the SVT, ranging from 71 to 100% (Austin & Lambert, 2008). Overt MPN was identified in about one‐third of patients with SVT at the time of thrombosis (Denninger et al.…”

Guidelines on the investigation and management of venous thrombosis at unusual sites

“…MPNs account for up to a quarter of cases(De Stefano et al, 1997) and PVT is a common presenting manifestation of MPN(Hoekstra et al 2011). Therefore all PVT patients should be assessed for the JAK2 V617F mutation(Colaizzo et al, 2007;Austin & Lambert, 2008;Xavier et al, 2010). Paroxysmal nocturnal haemoglobinuria (PNH) is an important cause of intra-abdominal thrombosis(Ziakas et al, 2007).…”

Splanchnic vein thrombosis following renal transplantation: a case report

“…A very interesting finding in patients with thrombotic complications was the high prevalence of this mutation in female patients with SVT, indicating a gender-related susceptibility, while it was uncommon in patients with venous thrombosis at other locations or with arterial thrombosis [18,19]. There is strong clinical evidence that JAK2V617F mutation mediates overactivation of platelets in MPD [21,22]. In one retrospective study including 241 cases of SVT, the JAK2V617F mutation was identified in 34% of MPD patients with portal vein thrombosis (PVT).…”