Thesis (M.Sc.) - Cairo University - Faculty of Science - Department of Biotechnology

Myeloproliferative neoplasms (MPNs) describe a group of diseases involving the bone marrow. Classical MPNs are subdivided into chronic myelogenous leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). These subdivisions are made according to the presence of Philadelphia chromosome. CML are always Philadelphia (BCR-ABL) positive while PV, ET, and PMF are always negative. JAK2 p.Val617Phe point mutation is the most associated mutation in BCR/ABL negative MPNs. The frequency of JAK2 p.Val617Phe is 90-95% in PV patients, 50%-60% in ET, and 40-50% in patients with PMF. Studies on MPL gene revealed a gain of function mutations in JAK2 p.Val617Phe negative myeloproliferative neoplasms (MPNs). MPL p. W515L/K mutations are the most common across all mutations in MPL gene. The prevalence of these mutations over the Egyptian population is not clear enough. In this study we have investigated the frequency of MPL p.W515L/K and JAK2 p.Val617Phe mutations in 60 patients with MPNs using ARMS technique. BCR/ABL positive patients were excluded from the study. All patients were referred to the outpatient clinic of Nasser Institute hospital Cairo, Egypt. The study was carried out between February 2016 and January 2018. The diagnosis of MPNs was based on the World Health Organization criteria 2016 revision. Median age was 51 years (22-73). Splenomegaly was found in ET patients with higher frequency. JAK2 p.Val617Phe mutation was detected in 28 (46.7%) patients with no significant difference between the three groups, p = 0.143. All patients were negative for both mutations of the MPL p.W515L and MPL p.W515K

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