TranSYS Training School 24th November 09.15

Prof. Dr. Irena Preložnik Zupan, MD

Head of the Outpatient Department, Day Care Hospital and Haemophilia Centre for adults

Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana & Department of Internal Medicine, Faculty of Medicine, University of Ljubljana, Slovenia

Tuesday 24th November 2020  09.15 CET

Challenges in the Introduction of NGS in Haematology

Abstract: In haematology, next-generation sequencing (NGS) is used for diagnosis of acquired myeloid malignancies, less frequently for rare inherited genetic diseases. Erythrocytosis is a disorder with an excessive number of red blood cells. Due to its complexity, diagnosis is problematic and the cause of disease often remains unidentified. However, a distinctive characterization of erythrocytosis in the individual patient is crucial to provide effective care. We updated the national diagnostic algorithm to define the cause of erythrocytosis in previously undiagnosed patients and performed NGS genetic testing using a panel with an extended selection of hereditary erythrocytosis and hereditary hemochromatosis associated genes. Heterozygous missense substitution c.1609G>A (rs137853036), causative for congenital erythrocytosis type 4 (ECYT4), was identified in EPAS1 gene of one patient. The remaining patients carried no disease-driver variants known in the literature till now and are subjected to further functional analysis of novel variants.

Key references:

Bago M, Butkovic A, Preloznik Zupan I, Faganel Kotnik B, Prga I, Bacic Vrca V, Zupancic Salek S. Depressive symptoms and adherence to prophylaxis in patients with haemophilia from Croatia and Slovenia. Haemophilia. 2020 Jul;26(4):e161-e167. doi: 10.1111/hae.14011. PMID: 32741039.

Anžič Drofenik A, Vrtovec M, Božič Mijovski M, Sever M, Preložnik Zupan I, Kejžar N, Blinc A.  Progression of coronary calcium burden and carotid stiffness in patients with essential thrombocythemia associated with JAK2 V617F mutation. Artherosclerosis. 2020 Mar;296:25-31. doi: 10.1016/j.atherosclerosis.2020.01.001. PMID: 32005002.

Biography: Irena Preloznik Zupan is Head of the Outpatient Department, Day Care Hospital and Haemophilia Centre for adult patients at the Department of Haematology, UMC Ljubljana, Slovenia. She completed Internal Medicine and Haematology specialisation at the UMC Ljubljana. Her clinical and research activity is focussed on haemostatic disorders, general haematology and also chronic leukaemias, lymphoma and myeloproliferative neoplasms. She is a member of the EHA, ADVANCE group, MPN&MPNr and is/was PI in clinical studies. During last years she has been working intensively on the development of a Daycare hospital in the field of haematology. Together with the patient society, she started the Slovenian Comprehensive Care Programme for Haemato-oncology patients. Since 1999, prof. Zupan has been giving regular lectures and tutorials in internal propaedeutic, internal medicine and clinical haematology for Medicine and Pharmacy Faculty students at the UMC Ljubljana, Slovenia and is a mentor for PhD and MSc students.