Management of medullary thyroid carcinoma

Medullary thyroid carcinoma (MTC) is responsible for 13.4% of the total deaths attributable to thyroid cancer in human beings and research on MTC over the last 40 years has identified the RET proto-oncogene as a very relevant component of development of both sporadic and hereditary MTC. An activating germline RET proto-oncogene mutation responsible for a multiple endocrine neoplasia syndrome type 2 (MEN2) or a familial hereditary MTC syndrome is carried by 25% to 35% of patients with MTC. The recognition of RET proto-oncogene mutations by genetic sequencing has allowed us to differentiate hereditary from sporadic MTC, so that it is now possible to identify and treat children at risk for this disease before development of metastasis. Thanks to this discovery, we can now establish the association of MTC with other tumors in the context of MEN2 syndrome; determine adequate follow-up, prognosis, and treatment for patients with hereditary disease; and use this information to develop new therapies against both sporadic and hereditary MTCs.