Povezanost V600E mutacije gena BRAF s kliničkim i patohistološkim obilježjima agresivnosti papilarnog karcinoma štitnjače

master's thesis

• Title (english): Association of V600E mutations in BRAF gene with aggressive clinical and pathohistological features of papillary thyroid carcinoma
• Author: Franko Klasić
• Mentor: Ivan Šamija (mentor)
• Mentor: Nada Oršolić (komentor)
• Committee member: Nada Oršolić (predsjednik povjerenstva)
• Committee member: Inga Urlić (član povjerenstva)
• Committee member: Domagoj Đikić (član povjerenstva)
• Committee member: Romana Gračan (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2024-09-03, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Pojavnost papilarnog karcinom štitnjače (PKŠ) u zadnjim desetljećima se povećava. Otkrivanje molekularnih biljega povezanih s agresivnošću i lošijom prognozom bolesti mogli bi pomoći u liječenju bolesnika s PKŠ. Mutacija BRAF V600E najčešća je mutacija detektirana u PKŠ i čini više od 95% svih mutacija u genu BRAF. Prisutnost ove mutacije rezultira konstitutivnom aktivnošću Braf kinaze koja dovodi do stalne aktivacije MAPK signalnog puta. Istraživanja do sada pokazuju različite rezultate vezano za prognostičku vrijednost detektirane mutacije BRAF V600E i njene povezanosti s patohistološkim obilježjima PKŠ. Cilj rada bio je odrediti prisutnost mutacije BRAF V600E u uzorcima PKŠ (n=263) pacijenata te ispitati povezanost između prisutnosti mutacije i patohistoloških obilježja tumora. Prema dobivenim rezultatima pokazano je kako ne postoji statistički značajna povezanost između prisutnosti mutacije BRAF V600E i stupnja proširenosti bolesti i ispitivanih patohistoloških obilježja. Statistički značajna povezanost pronađena je između stupnja proširenosti bolesti i promjera tumora (p< 0,001) i između starije životne dobi pacijenata i prisutnosti mutacije BRAF V600E (p< 0,001).

Abstract (english)

The incidence of papillary thyroid cancer (PTC) is increasing in the last decades. Detection of the molecular markers associated with poor prognosis of the disease can help patients with PTC. BRAF V600E is the most common mutation detected in PTC patients and accounts for more than 95% of mutations in BRAF gene. This mutation results in constitutive activation of Braf kinase and constitutively activated MAPK signaling pathway. Studies show conflicting results regarding the prognostic value of the BRAF V600E mutation and its association with disease dissemination and pathohistological features of the PTC. The aim of this study was to detect mutation BRAF V600E in patients (N=263) with PTC and to examine the association between the presence of the mutation and the pathohistological features of the tumor. Based on the results, it was shown that there is no statistically significant association between the presence of the BRAF V600E mutation and the degree of disease dissemination and the examined pathohistological features. A statistically significant association was found between the disease dissemination and tumor diameter (p< 0.001) and between older age of patients and the presence of BRAF V600E mutation (p< 0.001).

• Keywords: tumor; onkogen; prognoza; metastaze
• Language: croatian
• URN:NBN: urn:nbn:hr:217:106749
• Study programme: Title: Experimental Biology-University graduate programme; Study programme type: university; Study level: graduate; Academic / professional title: sveučilišni/a magistar/magistra eksperimentalne biologije (sveučilišni/a magistar/magistra eksperimentalne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2024-09-12 16:44:35