Mojila Nasseri1,2, Fatemeh Keyfi3,2, Raheleh Rahbarian1, Majid Rajabian4, Mohammad Reza Abbaszadegan2,5. 1. Department of Biochemistry, Payamenoor University, Tehran, Iran. 2. Pardis Clinical and Genetics Laboratory, Mashhad, Iran. 3. Department of Medical Laboratory Sciences, Varastegan Institute for Medical Sciences, Mashhad, Iran. 4. Department of biology, Payamenoor University, Tehran, Iran. 5. Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, MUMS, Mashhad, Iran.
Abstract
BACKGROUND: Janus kinase 2 (JAK2) is a tyrosine kinase located in the cytoplasm that plays a critical role in the signal transduction of cytokines and growth hormones. The conversion of valine to phenylalanine at the polypeptide position 617 results in the JAK2 (V617F) mutation, which often found in patients with myeloproliferative neoplasms (MPNs). As a result of this mutation, JAK2 is constitutively activated leading to uncontrolled cell growth. The present study aimed to investigate the frequency and relationship of the JAK2 (V617F) mutation in a population of patients with MPNs in Iran. METHODS: A total of 213 patients with myeloproliferative diseases (MPDs), were included in the study. Real-time PCR was used to detect the presence of the JAK2 (V617F) mutation in the genomic DNA isolated from patient peripheral blood samples. RESULTS: Of the 213 patients with MPDs, approximately 60 (28%) patients were positive for the JAK2 (V617F) mutation. Polycythemia Vera (PV, 42.11%) was the most common MPD, followed by Essential Thrombocythemia (ET, 29.82%), Primary Myelofibrosis (MF, 12.28%), and Chronic Myeloid Leukemia (CML, 10.5%). A significant relationship between all types of MPDs and the clinical course (p< 0.05) was observed. The relationship between age and gender among all types of MPD disease was not significant (p> 0.05). CONCLUSION: Of the examined cohort in North Eastern Iran, 28% of the patients with MPNs were found to have the JAK2 (V617F) mutation which determining the presence of the JAK2 (V617F) mutation helps to decide the correct form of treatment.
BACKGROUND: Janus kinase 2 (JAK2) is a tyrosine kinase located in the cytoplasm that plays a critical role in the signal transduction of cytokines and growth hormones. The conversion of valine to phenylalanine at the polypeptide position 617 results in the JAK2 (V617F) mutation, which often found in patients with myeloproliferative neoplasms (MPNs). As a result of this mutation, JAK2 is constitutively activated leading to uncontrolled cell growth. The present study aimed to investigate the frequency and relationship of the JAK2 (V617F) mutation in a population of patients with MPNs in Iran. METHODS: A total of 213 patients with myeloproliferative diseases (MPDs), were included in the study. Real-time PCR was used to detect the presence of the JAK2 (V617F) mutation in the genomic DNA isolated from patient peripheral blood samples. RESULTS: Of the 213 patients with MPDs, approximately 60 (28%) patients were positive for the JAK2 (V617F) mutation. Polycythemia Vera (PV, 42.11%) was the most common MPD, followed by Essential Thrombocythemia (ET, 29.82%), Primary Myelofibrosis (MF, 12.28%), and Chronic Myeloid Leukemia (CML, 10.5%). A significant relationship between all types of MPDs and the clinical course (p< 0.05) was observed. The relationship between age and gender among all types of MPD disease was not significant (p> 0.05). CONCLUSION: Of the examined cohort in North Eastern Iran, 28% of the patients with MPNs were found to have the JAK2 (V617F) mutation which determining the presence of the JAK2 (V617F) mutation helps to decide the correct form of treatment.
Authors: Melanie J Percy; Quan Zhao; Adrian Flores; Claire Harrison; Terence R J Lappin; Patrick H Maxwell; Mary Frances McMullin; Frank S Lee Journal: Proc Natl Acad Sci U S A Date: 2006-01-09 Impact factor: 11.205
Authors: G Barosi; R A Mesa; J Thiele; F Cervantes; P J Campbell; S Verstovsek; B Dupriez; R L Levine; F Passamonti; J Gotlib; J T Reilly; A M Vannucchi; C A Hanson; L A Solberg; A Orazi; A Tefferi Journal: Leukemia Date: 2007-08-30 Impact factor: 11.528
Authors: Neha Bhagwat; Priya Koppikar; Matthew Keller; Sachie Marubayashi; Kaitlyn Shank; Raajit Rampal; Jun Qi; Maria Kleppe; Hardik J Patel; Smit K Shah; Tony Taldone; James E Bradner; Gabriela Chiosis; Ross L Levine Journal: Blood Date: 2014-01-27 Impact factor: 22.113