Percorrer por autor "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.
- DICER1 and DGCR8 in thyroid tumorigenesis: miRNA biogenesis and histopathologic diversityPublication . Rodrigues, Lia; Martins, Rui Sousa; Máximo, Valdemar; Soares, Paula; Vinagre, João; Nosé, Vânia; Canberk, Sule; Rodrigues, LiaThis review examines the emerging roles of DICER1 and DGCR8, key components of the miRNA biogenesis pathway, in thyroid pathogenesis, with a particular focus on their association with oncocytic morphology. Recent findings have expanded our understanding of DICER1 syndrome and DGCR8-related thyroid disorders, revealing a broader spectrum of thyroid lesions associated with mutations in these genes than previously recognised. We analyse the current literature on DICER1 and DGCR8 mutations in thyroid pathology, synthesising data from both basic science and pathological studies. The review explores recent findings on oncocytic features in some DICER1-mutated thyroid lesions, acknowledging that this association remains under investigation. The manuscript details the molecular mechanisms underlying DICER1 and DGCR8 mutations, including their impact on miRNA processing and subsequent effects on gene expression and cellular function. We discuss the diverse range of thyroid lesions associated with these mutations, from benign follicular nodular disease to aggressive carcinomas. The clinical implications of these findings are significant, as recognising DICER1 and DGCR8-related thyroid lesions can lead to improved patient management, including genetic counselling and surveillance for other associated malignancies. We propose an algorithm for identifying DICER1-related thyroid lesions, with a focus on oncocytic tumours, to aid clinicians and pathologists in recognising these entities. This emerging field promises to refine the diagnosis, management, and treatment of thyroid disorders associated with miRNA biogenesis pathway alterations, potentially leading to novel diagnostic and therapeutic approaches.
- 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).