Medullary thyroid cancer - An update

Abstract

Medullary thyroid cancer (MTC) is a rare neuroendocrine disease, encompassing about 5% of all thyroid cancers. Due to its peculiar features, this rare tumour offers unique possibilities for translational research studies. It arises from neuroendocrine parafollicular cells in an endocrine organ, and appears as a nodule apparently indistinguishable from thyroid nodules. It has a very peculiar progression with micro metastases difficult to identify, often-remaining stable during years and suddenly undergoing a rapid and unrestrainable progression. Moreover, MTC is one of the neoplasms with the best genetic characterization either in its sporadic or familial form, providing a valuable background to test targeted drugs. In the era of precision medicine, this review aims to give an update on the diagnostic tools, the therapeutic options for advanced MTC, and the most promising opportunities for a personalized follow up.

Keywords: cabozantinib; calcitonin; circulating tumor DNA; medullary thyroid cancer; miRNA; selpercatinib.