Janus kinase 2 (JAK2V617F) mutations in patients with splanchnic vein thrombosis, a single centre experience

Abstract

JAK2V617F mutation is recurrent in polycythaemia vera and essential thrombocythaemia, which are myeloproliferative neoplasms (MPNs) frequently associated with arterial and venous thromboembolism. It also reported as a marker for occult MPN in patients with splanchnic venous thrombosis. We evaluate frequency of JAK2V617F and CALR mutations in patients’ samples presenting with splanchnic vein thrombosis that are sent to Clinical Referral Haematology Laboratory, Hospital Ampang, the tertiary referral laboratory offering both tests within Ministry of Health Malaysia. We retrospectively investigated JAK2V617F mutations samples from years 2016–2020 with presenting history of splanchnic vein thrombosis confirmed by ultrasound or computed tomography (CT) imaging. JAK2V617F mutation analysis was done by amplification refractory mutation system (ARMS) PCR and CALR mutation analysis by high resolution melting (HRM). There was a total of 93 patients (47 men and 46 women) during 2016 and 2020. 16 patients were found to have the JAK2V617 mutation, and the remaining were negative for JAK2V617F and CALR mutation. Of note, we found that patients with JAK2 V617F mutation presented with higher total white blood cell count and platelet count than those without mutation (p<0.05). Despite thrombosis being a common manifestation of MPN, the role of screening JAK2V617F mutations in all patients presenting with splanchnic vein thrombosis without other features of MPN is unclear. However, the significance of this mutation screening provides an accurate diagnosis and further understanding of the role of JAK2V617F mutation in thrombosis has a great potential for future development of therapeutics intervention.