Frequency of JAK2 V617F mutation in myeloproliferative neoplasms patients from Eastern Croatia

Abstract

Uvod: Janus kinaze su citoplazmatske tirozin kinaze koje sudjeluju u prijenosu signala od citokinskih receptora do transkripcijskih čimbenika porodice STAT. Zbog mutacije V617F u genu JAK2 dolazi do njegove stalne aktivacije. Mutacija V617F JAK2 pokazuje povećanu pojavnost u mijeloproliferativnim neoplazmama: policitemiji vera (PV), esencijalnoj trombocitemiji (ET) i primarnoj mijelofibrozi (PMF). Ciljevi istraživanja: Odrediti učestalost somatske stečene mutacije V617F gena JAK2 u skupinama oboljelih od PV, ET i PMF u populaciji istočne Hrvatske. Usporediti dobivene rezultate s objavljenim literaturnim podatcima. Ispitanici i metode: Skupina ispitanika obuhvaća 59 bolesnika (26 M, 33 Ž) s dijagnozom mijeloproliferativnih neoplazmi (MPN): PV (38), ET (19) i PMF (2). DNK je izolirana iz uzoraka pune krvi. Detekcija JAK2 V617F učinjena je metodom alel specifičnog PCR. Rezultati: Učestalost mutacije JAK2 V617F u skupini PV bila je 55,3 %, u ET 73,7 % i u PMF 50,0 %. Starije životne dobi su muški oboljeli od PV pozitivni na mutaciju u odnosu na negativne (P = 0,0025), te žene oboljele od ET pozitivne na mutaciju u odnosu na negativne (P = 0,0455). Zaključak: Učestalost mutacije JAK2 V627F viša je u oboljelih od ET u odnosu na PV i PMF. U skupinama PV i ET starije su životne dobi bolesnici s prisutnom mutacijom u odnosu na oboljele bez mutacije. Učestalosti mutacije JAK2 V617F kod oboljelih od PV, ET i PMF variraju u različitim populacijama. Naši su rezultati u skladu s publiciranim studijama.Introduction: Janus kinases are cytoplasmic tyrosine kinases involved in signal transduction from cytokine receptors to STAT transcription factors. The JAK2 V617F mutation leads to permanent activation of the JAK2. Mutation V617F JAK2 shows increased incidence in myeloproliferative neoplasms (MPN): polycythemia vera (PV), essential thrombocytopenia (ET) and primary myelofibrosis (PMF). Objectives: The aim of this research is to determine the incidence of V617F mutation in the JAK2 gene in patients with PV, ET, and PMF in the population of eastern Croatia. Furthermore, the aim is to compare the results obtained with the data found in published literature. Participants and Methods: The group of participants includes 59 patients (26 M, 33 F) with MPN diagnoses: PV (38), ET (19) and PMF (2). The DNA was isolated from a 5 mL full blood samples. Detection of JAK2 V617F was performed by allele specific real-time PCR techique. Results: The JAK2 V617F mutation was found in 55,3 % of PV, 73,7 % of ET and 50,0 % of PMF cases. The presence of mutation was associated with older age in male participants with PV (P = 0,0025), also with older age in female participans with ET (P = 0,0455). Conclusion: The frequency of JAK2 V617F mutation was highest in patients with ET, followed by PV and PMF. Different international publications reported a variable frequency of JAK2 V617F mutation for PV, ET and PMF. In general, our results are concordant to other published studies