Identification of Gene Mutations in Myeloproliferative Neoplasms by Sequence Analysis
Project no. 23258 · Status: Kapanmış (Yayın bekleniyor) · 2022
Summary
<p>Myeloproliferative Neoplasias (MPN) are a group of clonal diseases of the hematopoietic system characterized by abnormal proliferation of one or more myeloid series originating from hematopoietic stem cells. Genetic markers have a very important place in the diagnosis, follow-up and treatment of hematological malignancies. The best example of this is the relationship between BCR/ABL and Chronic Myeloid Leukemia (CML), a group of myeloproliferative neoplasias (MPN). While BCR/ABL fusion is the gold standard in diagnosis in CML patients, unique BCR/ABL mutations are responsible for treatment resistance.</p><p><br></p><p>In recent years, the discovery of new genes in BCR/ABL negative-MPN (JAK2, MPL, CALR, etc.) has made significant contributions to the differential diagnosis, prognosis and treatment of this group of patients. Among these, especially the JAK2 V617F mutation is positive in 95% of Polycythemia Vera (PV) patients, while it is detected positive in 40-50% of Essential Thrombocytosis (ET) and Primary Myelofibrosis (PMF) patients. In our study, we aim to elucidate the underlying molecular mechanisms for a better understanding of polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) by using the next generation sequencing method and to accurately distinguish the diseases in this group from each other. For this reason, the New Generation Sequencing (NGS) method was used in JAK2 gene mutation negative patients (n = 30) with a pre-diagnosis of MPN, who applied to the Hematology Department of Ege University Faculty of Medicine, to distinguish MPN subtypes more easily in the clinic and to reveal biomarkers for specific diagnosis. It is aimed to analyze mutations in genes related to .</p>