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master's thesis
Klonski poremećaji kromosoma i mutacija gena u bolesnika s akutnom mijeloičnom leukemijom
Zagreb: University of Zagreb, School of Medicine, 2021. urn:nbn:hr:105:995306
Karlović, Marko
University of Zagreb
School of Medicine
Department of Internal Medicine

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

Cite this document

Karlović, M. (2021). Klonski poremećaji kromosoma i mutacija gena u bolesnika s akutnom mijeloičnom leukemijom (Master's thesis). Zagreb: University of Zagreb, School of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:995306

Karlović, Marko. "Klonski poremećaji kromosoma i mutacija gena u bolesnika s akutnom mijeloičnom leukemijom." Master's thesis, University of Zagreb, School of Medicine, 2021. https://urn.nsk.hr/urn:nbn:hr:105:995306

Karlović, Marko. "Klonski poremećaji kromosoma i mutacija gena u bolesnika s akutnom mijeloičnom leukemijom." Master's thesis, University of Zagreb, School of Medicine, 2021. https://urn.nsk.hr/urn:nbn:hr:105:995306

Karlović, M. (2021). 'Klonski poremećaji kromosoma i mutacija gena u bolesnika s akutnom mijeloičnom leukemijom', Master's thesis, University of Zagreb, School of Medicine, accessed 27 December 2024, https://urn.nsk.hr/urn:nbn:hr:105:995306

Karlović M. Klonski poremećaji kromosoma i mutacija gena u bolesnika s akutnom mijeloičnom leukemijom [Master's thesis]. Zagreb: University of Zagreb, School of Medicine; 2021 [cited 2024 December 27] Available at: https://urn.nsk.hr/urn:nbn:hr:105:995306

M. Karlović, "Klonski poremećaji kromosoma i mutacija gena u bolesnika s akutnom mijeloičnom leukemijom", Master's thesis, University of Zagreb, School of Medicine, Zagreb, 2021. Available at: https://urn.nsk.hr/urn:nbn:hr:105:995306

Metadata
TitleKlonski poremećaji kromosoma i mutacija gena u bolesnika s akutnom mijeloičnom leukemijom
Title (english)Clonal disorders of chromosomes and gene mutations in patients with acute myeloid leukemia
AuthorMarko Karlović
MentorSlobodanka Ostojić-Kolonić (mentor)
Committee memberTomislav Letilović (predsjednik povjerenstva)
Committee memberJasenka Markeljević (član povjerenstva)
Committee memberSlobodanka Ostojić-Kolonić (član povjerenstva)
GranterUniversity of Zagreb
School of Medicine
(Department of Internal Medicine)
Zagreb
Defense date and country2021-09-02, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Abstract
Akutna mijeloična leukemija (AML) najčešća je akutna leukemija u odraslih, a karakterizira ju proliferacija i aberantna diferencijacija mijeloidnih prekursora. Riječ je o vrlo heterogenoj hematološkoj malignosti koja je posljedica različitih kromosomskih abnormalnosti, genskih mutacija te epigenetskih aberacija. Citogenetske abnormalnosti u AML-u uključuju uravnotežene i neuravnotežene translokacije, inverzije, delecije, monosomije, trisomije te složeni kariotip, koji predstavlja najmanje 3 stečene kromosomske aberacije. Citogenetski profil koristi se za raslojavanje bolesnika u povoljnu, srednju i nepovoljnu rizičnu skupinu. Genske mutacije u AML-u javljaju se unutar funkcionalnih kategorija kao što su kinazna signalizacija, tumorski supresori, transkripcijski čimbenici, prekrajanje RNA, kohezin, metilacija DNA te modifikatori kromatina. Prognoza AML-a promjenljiva je ovisno o kliničkim značajkama, kao i genetskim značajkama specifičnim za leukemiju, stoga se genetska karakterizacija određuje u vrijeme dijagnoze, za vrijeme potpune remisije te u relapsu. Genomska heterogenost i složenost unutar AML-a ne omogućuju samo preciznu dijagnozu i prognostičku klasifikaciju, nego, također, i raslojavanje rizika te primjenu personalizirane i ciljane terapije. Kako nova tehnologija napreduje, istraživat će se više mutacija gena, a razvijat će se i nove ciljane terapije koje će u bliskoj budućnosti koristiti većem broju pacijenata s AML-om.
Abstract (english)
Acute myeloid leukemia (AML) is the most common acute leukemia in adults characterized by the proliferation and aberrant differentiation of myeloid precursors. It is a highly heterogeneous hematological malignancy resulting from various chromosomal abnormalities, gene mutations and epigenetic aberrations. Cytogenetic abnormalities in AML include balanced and unbalanced translocations, inversions, deletions, monosomies, trisomies, and complex karyotype representing at least 3 acquired chromosomal aberrations. Cytogenetic profile is used to stratify patients into favorable, intermediate and unfavorable risk group. Gene mutations in AML occur within functional categories such as kinase signaling, tumor suppressors, transcription factors, RNA splicing, cohesin, DNA methylation and chromatin modifiers. The prognosis of AML is variable, based on clinical features, as well as leukemia-specific genetic features. Therefore, genetic characterization is performed at the time of diagnosis, at the time of complete remission, and at the time of relapse. The genomic heterogeneity and complexity within AML not only provide a precise diagnosis and prognostic classification but also risk stratification and an implementation of a personalized and targeted therapy. As the new technology advances, more gene mutations will be explored and new targeted therapies will be developed and benefit more AML patients in the near future.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:105:995306
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2022-02-24 10:16:23