JAK2V617F Mutation in Patient with Splanchnic Vein Thrombosis
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ORIGINAL ARTICLE
JAK2V617F Mutation in Patient with Splanchnic Vein Thrombosis Narender Kumar1 • Saniya Sharma1 • Jogeshwar Binota1 • Jasmina Ahluwalia1 Neelam Varma1 • Shano Naseem1 • Ishwar Chand1 • Varun Uppal1 • Saroj K. Sinha2
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Received: 23 July 2019 / Accepted: 15 May 2020 Ó Indian Society of Hematology and Blood Transfusion 2020
Abstract Splanchnic vein thrombosis is an uncommon life-threatening form of venous thrombosis. It is one the common complication among MPN’s. In the western studies the prevalence of JAK2V617F mutation among SVT patient is high and ranges from 7 to 59%. The frequency of this mutation among Indian SVT patients is heterogenous. This was a prospective case control study. A total 52 cases of SVT and 40 controls were screened for JAK2V617F mutation along with other routine thrombophilic risk factors. Out of total 52 cases, 10 had BCS, 2 had MVT and rest 40 were of PVT/EHPVO. The JAK2V617F mutation was seen in two cases and not in controls. Among the thrombophilic markers, heterozygous FVL mutation, PC, PS and presence of APA were seen in 2, 3, 1 and 3 cases respectively. In addition, eight cases also showed deranged risk factors (5 inherited and 3 acquired), however the repeat testing was not performed due to loss of follow up. Among controls, one person showed presence of APA and one person showed multiple thrombophilic risk factor deficiency. JAK2V617F mutation was observed in 3.8% among north Indian SVT patients. The frequency of mutation is on the lower side as compared to the available Indian data. The other thrombophilia markers (both inherited and acquired) are more frequent (18%) and
& Narender Kumar [email protected] 1
Department of Hematology, Level 5, Research Block A, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh 160012, India
2
Department of Gastroenterology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh 160012, India
patients should be routinely screened for these thrombophilia markers. Keywords JAK2 V617F Myeloproliferative neoplasms Splanchnic vein thrombosis Thrombophilia
Introduction JAK2V617F an acquired mutation in the Janus kinase 2 (JAK2) gene located on the short arm of chromosome 9. It leads to substitution of valine to phenylalanine at position 617 in the pseudokinase domain of JAK2 protein [1]. This mutation is common in BCR-ABL1–negative myeloproliferative neoplasms (MPN’s), and detected in is detected up to 95% of cases with polycythemia Vera and 50–60% in essential thrombocythemia and primary myelofibrosis [2]. In Western Literature, the incidence of thrombosis among BCR-ABL1 negative MPN’s ranges from 12 to 39% in PV, 11 to 25% in ET and up to 7% in patients with MF. The arterial involvement is more common as compared to the venous one [3, 4]. Splanchnic vein thrombosis (SVT) is one of the complications of MPN’s. In the absence of common causes of SVT such as cirrhosis and solid cancers; MPNs are a contributing factor in at least 30–40% of patients with SVT [5]. The pr
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