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Association of BRAF V600E Mutant Allele Proportion with the Dissemination Stage of Papillary Thyroid Cancer

Blažeković, Ivan; Šamija, Ivan; Periša, Josipa; Gall Trošelj, Koraljka; Regović Džombeta, Tihana; Radulović, Petra; Romić, Matija; Granić, Roko; Šiško Markoš, Ines; Fröbe, Ana; Kusić, Zvonko; Jukić, Tomislav (2024) Association of BRAF V600E Mutant Allele Proportion with the Dissemination Stage of Papillary Thyroid Cancer. Biomedicines, 12 (3). ISSN 2227-9059

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Abstract

The early identification of aggressive forms of cancer is of high importance in treating papillary thyroid cancer (PTC). Disease dissemination is a major factor influencing patient survival. Mutation status of BRAF oncogene, BRAF V600E, is proposed to be an indicator of disease recurrence; however, its influence on PTC dissemination has not been deciphered. This study aimed to explore the association of the frequency of BRAF V600E alleles in PTC with disease dissemination. In this study, 173 PTC samples were analyzed, measuring the proportion of BRAF V600E alleles by qPCR, which was then normalized against the proportion of tumor cells. Semiquantitative analysis of BRAF V600E mutant protein was performed by immunohistochemistry. The BRAF V600E mutation was present in 60% of samples, while the normalized frequency of mutated BRAF alleles ranged from 1.55% to 92.06%. There was no significant association between the presence and/or proportion of the BRAF V600E mutation with the degree of PTC dissemination. However, the presence of the BRAF mutation was significantly linked with angioinvasion. This study’s results suggest that there is a heterogeneous distribution of the BRAF mutation and the presence of oligoclonal forms of PTC. It is likely that the BRAF mutation alone does not significantly contribute to PTC aggressiveness.

Item Type: Article
Uncontrolled Keywords: papillary thyroid cancer; dissemination; BRAF V600E; tumor heterogeneity; qPCR
Subjects: NATURAL SCIENCES > Biology
BIOMEDICINE AND HEALTHCARE > Basic Medical Sciences
BIOMEDICINE AND HEALTHCARE > Clinical Medical Sciences
Divisions: Division of Molecular Medicine
Projects:
Project titleProject leaderProject codeProject type
Genetski i epigenetski biljezi kao pokazatelji agresivnosti diferenciranog karcinoma štitnjače-ThyroGeneMarkZvonko KusićIP-2019-04-1130HRZZ
Depositing User: Ivana Vuglec
Date Deposited: 20 Oct 2025 07:01
URI: http://fulir.irb.hr/id/eprint/10028
DOI: 10.3390/biomedicines12030477

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