Identification of JAK2V617F Mutation on Myeloproliferative Disorders in Medan

Abstract

Abstract-Myeloproliferative disorders (MPD) form a range of clonal haematological malignant diseases, the main members of which are Polycythaemia Vera (PV), Essential Thrombocythaemia (ET), and Primary Myelofibrosis (PMF). The molecular pathogenesis of these disorders is unknown, but gene JAK2, which encodes a tyrosine kinase was found mutated in MPD. Identification of JAK2V617Fmutation can facilitate doctors to diagnose and determine the therapeutic targets in patients with MPD. Studyon this mutation is already much observed in developing countries, but in Indonesia, the examination of JAK2V617Fmutation can only be done on a limited area, such as the Eijkman Institute, Jakarta and the Laboratory of Biomolecular CEBIOR, University of Diponegoro. The aim of this study is to identify of JAK2V617F mutationand to develop laboratory center particularly in TERPADU laboratory, University of Sumatera Utara as a method to diagnose MPD in Medan. We recruited patients from Haji Adam Malik, Pirngadi hospitals, private hospitals, and other haematology clinics from July until October 2016. The diagnoses of PV, ET and PMF were made according to the World Health Organization (WHO) criteria, based on peripheral blood counts and bone marrow histology. We obtained DNA samples and detecting of JAK2V617F mutation at TERPADU laboratory, University of Sumatera Utara. In this study,of MPD patients, the JAK2V617F mutation was observed in PV (58%), and ET (27%). Of 23 MPD patients, 10 patients was identified as positive JAK2V617F mutation.

Physician Perceptions of the Clinical, Economic and Humanistic Burden of Disease and Unmet Needs in Myelofibrosis: Preliminary Findings from the MPN Landmark Survey in Indonesia

“…Symptoms reported included tightness, fatigue, night sweats, cachexia, fever, and bleeding. Other serious complications associated with the disease include splenomegaly, thrombocytosis, anemia, progression to acute leukemia, and clotting complications (Anggraini et al, 2016).…”

“…Along with an increasing trend of disease incidence and mortality, unmet needs associated with myelofibrosis treatment in Indonesia is evident. Geographical limitations in testing for JAK2 mutation represents a main diagnosis barrier and can be attributed to the lack of hospital equipment in specific regions (Irhamsyah et al, 2018;Anggraini et al, 2016). Additionally, difficulties in differentiating between ET, PV and MF subtypes exist due to overlapping phenotypes and similar cytogenic abnormalities.…”