Hend Abdelhady Nooh Mahmood

Detection of IDH1 and IDH2 mutations in denovo acute myeloid leukemia patients at National Cancer Institute, Cairo University / في حالات سرطان الدم الميلودي الحاد الحديثة التشخيص بالمعهد القومي للاورام - جامعة القاهرة Isocitrate Dehydrogenase (IDH 1,2) كشف الطفرة الجينيه لجيني Hend Abdelhady Nooh Mahmood ; Supervised Ragia H. Badawy , Yasser H. Elnahhas , Fatma A. Elrefaey - Cairo : Hend Abdelhady Nooh Mahmood , 2019 - 187 P. : charts ; 25cm

Thesis (Ph.D.) - Cairo University - National Cancer Institute - Department of Clinical Pathology

Introduction: AML is characterized by the uncontrolled clonal proliferation of poorly differentiated cells of myeloblasts. Isocitrate dehydrogenases (IDH1&2) are enzymes involved in multiple metabolic and epigenetic cellular processes. Mutations in IDH1 or IDH2 induce production of an oncometabolite, 2-hydroxyglutarate (R-2-HG) which leads to DNA hypermethylation, and abnormal differentiation. IDH mutations diversely affect prognosis of patients with AML based on the presence of other co-occurring genomic abnormalities. Aim of the work : The aim of this study was to assess the frequency of IDH1& IDH2 genes mutations in AML patients and evaluate their role in disease prognosis. Patients and Methods: We analyzed IDH mutations in 70 denovo AML patients (exon 4 for IDH1& exon 4 for IDH2) using High Resolution Melting (HRM) curve analysis



AML (Acute Myeloid Leukemia) IDH (Isociterate Dehydrogenase) Karyotype