Medullary thyroid carcinoma (MTC) is a rare, accounting for 5% of thyroid
malignancies. It is a neuroendocrine tumor wich origins from thyroid parafollicular cells. It
may be sporadic, mostly in adult patients, or inherited as autosomal dominant pattern,
mostly in pediatric patients. As familial cancer, MTC may presented isolated as familial
medullary thyroid carcinoma (FMTC) – 10% of cases - or, most often, as part of multiple
endocrine neoplasm type 2 (MEN 2A or MEN 2B) syndromes – 90% of cases.
The therapy for sporadic or hereditary MTC is surgical resection and consists in total thyroidectomy
associated with central compartment lymph nodal dissection; the radicality of
this intervention is fundamental to obtain a definitive cure.
Genetic screening in children of parents with MEN2 or FMTC has led to prophylactic total
thyroidectomy. The type of prophylactic surgery required is focus of great attention, and it
is reported that total thyroidectomy, central neck dissection associated with parathyroid
autotransplantation is the proper management. In children, the recommended age of surgery
based on genetic testing is 5 years for patients with MEN 2A and FMTC, and 1 year
for children possessing the RET mutation responsible for MEN 2B. The surgical management
changes depending on the type of codon mutated.