Determination of JAK2 V617F gene mutation for diagnosis of polycythemia vera / Эрүүл мэндийн лаборатори

ABSTRACT

Introduction@#Polycythemia vera (PV) is Philadelphia chromose (Ph)-negative and chronic myeloproliferative disorder (MPN). Moreover, 0.01-2.6 incidences are diagnosed for every 100,000 population. In Polycythemia vera, guanine on 1849th base of 14th ex-one of 9th hromosome is replaced by thymidine and homozygous state is developed. As a result, valine on 617 of JH2 domain in JAK2 is replaced by fenylalanine and activation of tyrosine kinase is increased. Then, signal pathways such as JAK-STAT, PI3K/Akt and ERK1 are independently activated. The JAK2 V617F mutation is identified in approximately 95% of total polycythemia vera diagnosed cases. Furthermore, the average age group of patients with polycythemia vera is 61 and 10% of them are aged under 40 years and malefemale ratio is 11. </br>In accordance with World Health Organization criteria of 2016 If three major criterias or first two criteria plus one minor criteria are identified, Polycythemia vera is diagnosed. </br> Although life expectancy rate of PV cases in follow-up is high, is lower in comparison with the general same age group of population and essential thrombocythemia (ET). In accordance with an international and large study (n=1545), the average life expectancy rate was 14.1 years among Polycythemia Vera diagnosed patients. More than half of mortality related to the disorder (53%) was caused by unknown etiology. On the other hand, (36\347, 10.3%), (36\347, 10.3%), (32\347, 9.2%) and (13\347, 3.7%) of the remaining mortality cases were caused by acute leukemia, secondary malignancy, thrombotic complications and cardiac failure, respectively.@*Objective@#We aimed to determine JAK2 V617F gene mutation on patients with suspected polycythemia vera and evaluate the CBC/complete blood count/ parameters and clinical signs. @*Material and method@#The cross sectional study was conducted during 8/Mar/2022 ad 20/May/2022 and 13 individuals with suspected polycythemia vera who received outpatient service at hematology department of State First Central hospital (SFCH) and Mongolia-Japan hospital of MNUMS were included. Ethical approval was received by order (№2022/3-02) of 28/Feb/2022 and research ethics review committee. Each and every participant received informed consents and agreed to participate in the study. The current study was conducted with the support of integrated laboratory of Clinical pathology of State First central hospital. @*Result@#Total of 13 participants were included in the study, 38.4% (n=5) and 61.5% (n=8) of them were male and females, respectively. The mean age group was 58.69±7.7 years. The JAK2 V617F mutation was detected in 92.3% (12/13) of patients. The average age group was 57.8 (52-68) for males and 58.6 (43-71) for females. Complete blood count parameters of males with the JAK2 V617F mutation are shown. </br>By questionnaire, some of clinical signs such as fatigue, pruritus after bath, headache, dizziness, bone and muscle pain, hands and feet peripheral cyanosis, numbness and nocturnal sweating were detected on patient with positive mutation.