World J Blood | Volume 2, Issue 1 | Research Article | Open Access
Iman M Omar1, Botheina A Farweez1, Mona Fathey A Elfattah1, Ahmed Samir2, Noha B Hassan1* and Esraa Mansour Hassan1
1Department of Clinical Pathology, Ain Shams University, Egypt
2Department of Tropical Medicine, Ain Shams University, Egypt
*Correspondance to: Noha Bassiouny Hassan
Fulltext PDFBackground: Budd-Chiari Syndrome (BCS) is a life-threatening hepatic disorder caused by complete or partial obstruction of hepatic venous outflow. This study aimed to detect JAK2V617F mutation in Egyptian patients with BCS and its value in detection of occult Myeloproliferative Neoplasms (MPNs).
Material and Method: The study was carried out on 57 newly diagnosed BCS patients. Thrombophilia screening tests were performed in all patients including prothrombin G20210A mutation, Methyltetrahydrofolate Reductase (MTHFR) mutation, Factor V Leiden mutation, measurement of Antithrombin 3 (AT3), protein C functional activity, free protein S antigen, and antiphospholipid antibodies/lupus anticoagulant, in addition to detection of JAK2V617F mutation by real time polymerase chain reaction.
Results: In our study 35.1% of BCS patients had idiopathic etiology while 64.9% were secondary to other pro-thrombotic factors; the most common was MTHFR mutation (42.1%) followed by FV Leiden (29.8%) while JAK2V617F mutation was positive in 21.1% of cases, it was detected in 41.7% of patients with idiopathic BCS and in 58.3% with secondary pro-thrombotic factors with no significant relation between pro-thrombotic risk factors and JAK2V617F mutation (p= >0.005). JAK2V617F mutational screening in BCS had raised percentage of MPN as a cause for BCS from 15.8% to 24.6% when occult cases were added.
Conclusion: The JAK2V617F mutation is an acquired mutation associated with occult MPNs that can be used for diagnosis of latent MPNs presenting with thrombotic events.
Budd-chiari syndrome (BCS); Myeloproliferative neoplasms (MPNs); JAK2V617F mutation
Omar IM, Farweez BA, Elfattah MFA, Samir A, Hassan NB, Hassan EM. Role of JAK2V617F Mutational Screening in Detecting Occult Myeloproliferative Neoplasms in Egyptian Patients with Budd-Chiari Syndrome. World J Blood. 2019;2(1):1007..