Browsing by Author "Canberk, Sule"
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- Comprehensive Assessment of TERT mRNA Expression across a Large Cohort of Benign and Malignant Thyroid TumoursPublication . Pestana, Ana; Batista, Rui; Celestino, Ricardo; Canberk, Sule; Sobrinho-Simões, Manuel; Soares, PaulaThe presence of TERT promoter (TERTp) mutations in thyroid cancer have been associated with worse prognosis features, whereas the extent and meaning of the expression and activation of TERT in thyroid tumours is still largely unknown. We analysed frozen samples from a series of benign and malignant thyroid tumours, displaying non-aggressive features and low mutational burden in order to evaluate the presence of TERTp mutations and TERT mRNA expression in these settings. In this series, TERTp mutations were found in 2%, only in malignant cases, in larger cancers, and from older patients. TERT mRNA expression was detected in both benign and malignant tumours, with increased frequencies in the malignant tumours with aggressive histotypes, larger tumours, and from older patients. In benign tumours, TERT mRNA expression was found in 17% of the follicular thyroid adenoma (FTA) with increased levels of expression in smaller tumours and associated with the presence of thyroiditis. TERTp mutations and TERT mRNA expression are correlated with worse prognosis features in malignant thyroid tumours, whereas TERT mRNA expression in the benign tumours is associated with the presence of thyroiditis.
- DGCR8 microprocessor subunit mutation and expression deregulation in thyroid lesionsPublication . Rodrigues, Lia; Canberk, Sule; Macedo, Sofia; Soares, Paula; Vinagre, JoãoDeregulation of microRNA (miRNA) processing is a driver event in several tumours including thyroid cancer. DiGeorge Critical Region 8 (DGCR8) gene holds a critical role in miRNA biogenesis, as a microprocessor complex component, and in the development of the thyroid. Previous studies identified a DGCR8 mutation – the variant c.1552G>A p.(E518K) – in cases of thyroid cancer and proposed to cause a familial syndrome characterized by multinodular goitre (MNG) and schwannomatosis. The goal of this study was to characterize the variant p.(E518K) of DGCR8 in thyroid lesions and evaluate its expression.
- Generation of an obese diabetic mouse model upon conditional Atrx disruptionPublication . Gaspar, Tiago Bordeira; Jesus, Tito Teles; Azevedo, Maria Teresa; Macedo, Sofia; Soares, Mariana Alves; Martins, Rui Sousa; Leite, Rúben; Rodrigues, Lia; Rodrigues, Daniela Ferreira; Cardoso, Luís; Borges, Inês; Canberk, Sule; Gärtner, Fátima; Miranda-Alves, Leandro; Lopes, José Manuel; Soares, Paula; Vinagre, JoãoATRX mutations occur in up to 17% of human pancreatic neuroendocrine tumours (PanNETs), and recent evidence points towards its inability to drive PanNET formation in mouse pancreas while predisposing individuals to inflammageing. Aiming to explore the additional non-tumourigenic consequences of Atrx deletion, we characterised an aged series of Atrx conditional disruption in β cells using the Pdx1 promoter. Homozygous mice (P.AtrxHOM) exhibited obesity, diabetes, glucose intolerance, and pancreatic adiposity at a higher extent than age- and sex-matched controls (P.AtrxWT).