Molecular pathology of thyroid tumours of follicular cells: a review of genetic alterations and their clinicopathological relevance |
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Authors: | Giorgia Acquaviva Michela Visani Andrea Repaci Kerry J Rhoden Dario de Biase Annalisa Pession Tallini Giovanni |
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Institution: | 1. Anatomical Pathology, Molecular Diagnostic Unit, University of Bologna School of Medicine, Azienda USL di Bologna, Bologna, Italy;2. Endocrinology Unit, University of Bologna School of Medicine, Bologna, Italy;3. Medical Genetics Unit, University of Bologna School of Medicine, Bologna, Italy;4. Department of Pharmacy and Biotechnology, Molecular Diagnostic Unit, University of Bologna, Azienda USL di Bologna, Bologna, Italy |
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Abstract: | Thyroid cancer is the most common endocrine malignancy. Knowledge of the molecular pathology of thyroid tumours originating from follicular cells has greatly advanced in the past several years. Common molecular alterations, such as BRAF p.V600E, RAS point mutations, and fusion oncogenes (RET–PTC being the prototypical example), have been, respectively, associated with conventional papillary carcinoma, follicular‐patterned tumours (follicular adenoma, follicular carcinoma, and the follicular variant of papillary carcinoma/non‐invasive follicular thyroid neoplasm with papillary‐like nuclear features), and with papillary carcinomas from young patients and arising after exposure to ionising radiation, respectively. The remarkable correlation between genotype and phenotype shows how specific, mutually exclusive molecular changes can promote tumour development and initiate a multistep tumorigenic process that is characterised by aberrant activation of mitogen‐activated protein kinase and phosphoinositide 3‐kinase–PTEN–AKT signalling. Molecular alterations are becoming useful biomarkers for diagnosis and risk stratification, and as potential treatment targets for aggressive forms of thyroid carcinoma. What follows is a review of the principal genetic alterations of thyroid tumours originating from follicular cells and of their clinicopathological relevance. |
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Keywords: | anaplastic thyroid carcinoma follicular thyroid carcinoma molecular pathology papillary thyroid carcinoma poorly differentiated thyroid carcinoma thyroid cancer thyroid markers thyroid tumours |
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