Acquired JAK-2 V617F Mutational Analysis in Pakistani Patients with Essential Thrombocythemia

Background: Essential thrombocythemia (ET) is a clonal hemopoietic stem cell myeloproliferative neoplasmcharacterized by persistent thrombocytosis along with megakaryocytic hyperplasia. In the last decade followingthe identification of an acquired JAK2 V617F mutation, there has been acceleration in our understanding ofthis disease. The rational of this study was to determine the mutational profile of JAK2 V617F in Pakistanpatients with ET. Materials and
Methods: In this retrospective cross sectional study, 21 patients with ET wereenrolled from January 2011 to December 2014. Patients were diagnosed based on WHO criteria for essentialthrombocythemia. Complete blood count was done on an automated hematology analyzer, while JAK2 V617Fexpression was evaluated by polymerase chain reaction.
Results: The mean age was 56.7±19.0 years (range18-87) and the male to female ratio was 1:1.1. The frequency of JAK2 V617F positivity in our ET patients wasfound to be 61.9%. The mean hemoglobin was 11.7±2.4 g/dl with a total leukocyte count of 13.3±8.1x109/l anda platelet count of 1188±522x109/l. Positive correlations for JAK2 V617F mutation were established with highTLC count and raised LDH (P<0.05). No correlation of JAK2 V617F could be established with age and gender(P>0.05).
Conclusions: JAK2 V617F mutation frequency in our ET patients was similar to those reportedpreviously. Screening for the mutation in all suspected essential thrombocythemia cases could be beneficial indifferentiating patients with reactive and clonal thrombocytosis.