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Molecular pathology of thyroid tumours of follicular cells: a review of genetic alterations and their clinicopathological relevance
Author(s) -
Acquaviva Giorgia,
Visani Michela,
Repaci Andrea,
Rhoden Kerry J,
Biase Dario,
Pession Annalisa,
Giovanni Tallini
Publication year - 2018
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.13380
Subject(s) - pten , pathology , thyroid carcinoma , thyroid cancer , thyroid , follicular phase , cowden syndrome , cancer research , adenoma , medicine , follicular cell , molecular pathology , biology , malignancy , pi3k/akt/mtor pathway , gene , signal transduction , biochemistry
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.