Medullary thyroid cancer (MTC) compromises 3-5% of all thyroid cancers and arises from parafollicular or calcitonin-producing C cells. It may be sporadic (75% of cases), or may occur as a manifestation of either the hereditary syndrome Multiple Endocrine Neoplasia type 2 (MEN 2A or MEN 2B) (25% of cases), or rarely as an isolated familial syndrome (FMTC). Complete surgical resection comprising in most cases total thyroidectomy with central lymph node dissection at an early stage of the disease is the […]

In this review we present practical aspects of thyroid molecular tumorigenesis. The most important issue is the molecular diagnosis of affected patients with RET mutations in families with medullary thyroid carcinoma and multiple endocrine neoplasia type 2. In addition, we discuss the molecular pathologenesis of differentiated thyroid carcinoma, like the data on RET/PTC rearrangements in papillary carcinoma and PAX8-PPARg1 rearrangement in follicular carcinoma. Subsequently, we present gain of function mutations in thyroid nodules and finally we conclude discussing the use […]