Thyroid carcinoma: genetics, diagnosis, clinical features, and surgical treatment

The genes implicated in thyroid carcinoma can be categorized as oncogenes or tumor-suppressor genes. The RET oncogene has well-established roles in the development of both medullary and papillary thyroid carcinoma (PTC). Genetic testing for the germline RET mutation is commonly performed, and prophylactic thyroidectomy is carried out at an early stage. The demonstration of a RET rearrangement in a PTC patient may be prognostic factor. TSH-R and Gs alpha are associated with the development of toxic thyroid adenoma (AFTN). The ras oncogene is implicated in the early stages of development of several tumor types. In conclusion, germline screening for RET mutations is now commonly undertaken in patients with medullary thyroid carcinoma.