Balkan Journal of Medical Genetics

JANUS KINASE V617F MUTATION DETECTION IN PATIENTS WITH MYELOFIBROSIS
Nikolova D1,2,*, Yordanov A2, Damyanova V1,2, Radinov A2, Toncheva D1
*Corresponding Author: Dragomira Nikolova, Ph.D., Department of Medical Genetics, Medical Faculty, Medical University Sofia, 2 Zdrave Street, 1431 Sofia, Bulgaria. Tel: +359888-103-456, E-mail: dmb@abv.bg
page: 57

INTRODUCTION

The existence of extramedullary hematopoiesis, overstimulated fibroblasts in abnormal microenvironment, fibrous tissue deposits in the bone marrow, dysregulation of the normal production of blood cells, low count of platelets and subsequently, the onset of anemia, are events typical for myelofibrosis (MF). Myelofibrosis could be Philadelphia chromosome positive or negative, primary or resulting as a consequence to initially diagnosed polycythemia vera (PV) or essential thrombocytopenia (ET) [1]. According to the diagnostic criteria of the World Health Organization (WHO), the V617F mutation on the Janus kinase 2 (JAK2) gene is listed among the major criteria for primary MF (PMF), ET and PV [1]. Mutations on three genes are associated with PMF: V617F (JAK2), ins/del (CALR), W515L/W515K (MPL) [2]. Different researchers have investigated the frequency of those genetic mutations in patients with ET, PMF and PV [3-8]. Janus kinase 2 exon 14 mutation in JAK2 is the most frequent mutation in myeloproliferative neoplasms (MPN), present in the majority of PV and ET/PMF patients (96.0 and 65.0% in ET, respectively) [9]. It is considered to be the most significant potentiator of JAK/STAT signaling pathway leading to its constitutive activation [10]. Patients with ET positive for JAK2 V617F slowly progress to PV [11], while PV and ET progress differently to secondary MF [12]. The enhanced phosphorylation of STAT1 or STAT5 following JAK2 activation promotes megakaryopoiesis or erythropoiesis. In the current study, we performed targeted mutational analysis of 232 patients from our Hematology Ward for JAK2 V617F mutation. Thirty-eight (16.4%) patients were suspected to carry PMF, and in 20, the diagnosis was confirmed by bone marrow biopsy. Our aim was to estimate the carriers of JAK2 V617F in our cohort of patients with PMF and compare it with the frequency so far reported by other researchers.

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