Opredelitev delecij gena IKZF1 pri otrocih z B-celično akutno limfoblastno levkemijo

Marinšek, Gašper (author), Debeljak, Maruša (mentor), Novinec, Marko (comentor)

Akutna limfoblastna levkemija (ALL), za katero je značilna maligna transformacija predniških celic B ali T limfocitov, je najpogostejša rakava bolezen pri otrocih. Sodobni načini zdravljenja omogočajo visoke stopnje preživetja, kljub temu pa imajo nekateri podtipi še vedno slabo prognozo. Raziskovalci se zato ukvarjajo s prepoznavanjem dodatnih (molekularno-genetskih) dejavnikov, ki vplivajo na neuspešno zdravljenje oz. ponovitev bolezni. V okviru magistrske naloge smo pri otrocih z B-celično ALL z metodo MLPA ovrednotili spremembe števila kopij nekaterih genov, povezanih z razvojem bolezni, in te spremembe povezali z izidi zdravljenja. Ugotovili smo, da so imeli otroci z delecijo gena IKZF1 in otroci z vsaj eno dodatno delecijo (IKZF1plus) slabše preživetje brez dogodka kot otroci brez tovrstnih genetskih sprememb. Otroci, razvrščeni v skupino IKZF1plus, so imeli tudi slabše celokupno preživetje. Metoda genetske analize, postavljena v tej nalogi, bo z uvedbo v diagnostiko omogočila prepoznavanje otrok z B-celično ALL, ki so bolj ogroženi, zaradi česar bodo ti otroci lahko deležni optimalnejšega zdravljenja.

• Language: Slovenian
• Keywords: B-celična akutna limfoblastna levkemija, delecija gena IKZF1, IKZF1plus, diagnostični postopek
• Work type: Master's thesis/paper
• Typology: 2.09 - Master's Thesis
• Organization: FKKT - Faculty of Chemistry and Chemical Technology
• Year: 2019
• PID: 20.500.12556/RUL-111448
• COBISS.SI-ID: 6545068
• Publication date in RUL: 01.10.2019

MARINŠEK, Gašper, 2019, Opredelitev delecij gena IKZF1 pri otrocih z B-celično akutno limfoblastno levkemijo [online]. Master’s thesis. [Accessed 30 May 2025]. Retrieved from: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=eng&id=111448

Secondary language

• Language: English
• Title: Determination of IKZF1 gene deletions in children with B-cell acute lymphoblastic leukemia

Abstract

Acute lymphoblastic leukemia (ALL), characterized by malignant transformation of B- or T-cell precursors, is the most common cancer among children. While modern treatment protocols enable high survival rates, some subtypes are still associated with poor prognosis. Researchers are therefore working on recognition of additional (molecular-genetic) factors which affect treatment failure or disease recurrence. In our research, we used MLPA method to assess DNA copy-number alterations in children with B-cell ALL and linked these alterations to treatment outcome. We found out that children who harbour IKZF1 deletion and children with at least one additional deletion (IKZF1plus) had lower event-free survival compared to children without such genetic lesions. Children, classified as IKZF1plus, also had lower overall survival. Once this newly set-up genetic method is introduced into diagnostics, it will help recognize children with B-cell ALL at higher risk, who will then receive more optimal treatment.

• Keywords: B-cell acute lymphoblastic leukemia, IKZF1 gene deletion, IKZF1plus, diagnostic procedure