In silico analiza molekularnih biljega epitelno-mezenhimske tranzicije u gliomima

master's thesis

• Title (english): In silico analysis of molecular markers of epithelial to mesenchymal transition in gliomas
• Author: Željko Škripek
• Mentor: Nives Pećina-Šlaus (mentor)
• Committee member: Anja Kafka (predsjednik povjerenstva)
• Committee member: Ljiljana Šerman (član povjerenstva)
• Committee member: Nives Pećina-Šlaus (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Medical Biology); Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Medical Microbiology

Abstract

CILJ: Prikupiti podatke o mutacijama, amplifikacijama i delecijama gena uključenih u EMT te pridružiti učestalost genetičkih promjena s gliomima nižih (LGG) i viših gradusa (HGG).

MATERIJALI I METODE: Retrospektivno prikupljeni podaci 13 odabranih gena u gliomima različitih patohistoloških tipova i gradusa korištenjem podataka u bazi cBioPortal. Analiza je uključivala mutacije pojedinog gena, promjene u broju kopija (CNA - copy number alteration) te razine transkripta (mRNA).

REZULTATI: U istraživanju su obrađeni podaci od 3497 uzoraka. Samo glioblastomi i difuzni gliomi imaju promjene na svih 13 analiziranih gena. Anaplastični oligodendrogliom i anaplastični astrocitom imaju promjene u 46,15% analiziranih gena, oligodendrogliom u 23,08%, a oligoastrocitom u 15,38% analiziranih gena. Gen NOTCH1 bio je statistički značajno češće promijenjen u odnosu na gene CDH1, CTNNB1 i ZEB1 (p < 0,05).

ZAKLJUČAK: Iz analize zaključujemo da su geni sudionici EMT promijenjeni u gliomima različitih gradusa. Najčešće mutirani i amplificirani bili su geni NOTCH1 i SOX2. Dodatna istraživanja i validacija rezultata dobivenih iz cBioPortal baze potrebna su kako bi potvrdila spoznaje koje je ovaj rad donio.

Abstract (english)

OBJECTIVES: Collect data of mutations, amplifications and deletions of genes involved in EMT and associate the frequency of genetic changes with low-grade (LGG) and high-grade (HGG) gliomas.

MATERIALS AND METHODS: Retrospectively collected data of 13 selected genes in gliomas of different pathohistological types and grades using data in the cBioPortal database. The analysis included mutations of individual genes, changes in the copy number alteration (CNA) and transcript levels (mRNA).

RESULTS: The research processed data from 3497 samples. Only glioblastoma and diffuse glioma have changes in all 13 analyzed genes. Anaplastic oligodendroglioma and anaplastic astrocytoma have changes in 46.15% of the analyzed genes, oligodendroglioma in 23.08% and oligoastrocytoma have changes in 15.38% of the analyzed genes. NOTCH1 gene was statistically more frequently changed compared to the CDH1, CTNNB1 and ZEB1 genes (p < 0,05).

CONCLUSION: From the analysis, we conclude that genes involved in EMT are changed in gliomas of different grades. The most frequently mutated and amplified genes were NOTCH1 and SOX2. Additional research and validation of the results obtained from the cBioPortal database are needed to confirm the knowledge this paper has brought.

• Keywords: gliom; biljeg; gradus; EMT; cBioPortal
• Keywords (english): glioma; marker; grade; EMT; cBioPortal
• Language: croatian
• URN:NBN: urn:nbn:hr:105:909438
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-11-02 10:36:12