GAMBARAN GEN JAK2 PADA PENDERITA POLISITEMIA VERA DI LABORATORIUM CEBIOR

Abstract

Background: Polycythemia vera ( PV ) is one of the myeloproliferative malignancies. The Jak2V617F mutation is found in approximately 96 percent of people with PV. JAK2 gene mutation results in the production of an activated JAK2 protein, which appears to increase the production of blood cells. The identification of Jak2V617F mutation on Polycythemia Vera assists the doctors in diagnosing and determining the target of therapy. This molecular diagnosis is quite common in the developed countries but in Indonesia only Center for Biomedical Research (Cebior) Medical Faculty of Diponegoro University conducts it. The study aims to know the distribution of Jak2 gene on polycythemia vera’s patients at Cebior in Semarang from May 2012 to April 2015. Subject and method: The research employs descriptive retrospective observational cross-sectional design. The subject of the study were all patients suspected PV who were reffered to Cebior for Jak2V617F examination during May 2012 to April 2015. Result: Out of 138 patients who were referred for Jak2V617F examination at Cebior, 50 patients with referral diagnosis of PV and the incidence of PV increased every year . The result of the examination showed that 30 patients (60%) were positive of Jak2V617F. Conclusion: The identification of Jak2V617F mutation was done to 50 subjects and identified Jak2V617F mutation in 30 patients . The relatively high incidence of PV in CEBIOR further suggests the importance of the identification of Jak2V617F mutation to established the diagnoses of PV. Key words: Polycythemia vera, Jak2V617F