Medullary cancer of the thyroid gland

Over the past 40 years, our understanding of the biology and genetics of medullary thyroid cancer (MTC) have greatly advanced. Although the majority of MTC is sporadic, around 25% are familial. Surgery remains the only curative option in management of proven disease. However, clinicians must take the often indolent nature of this condition and its propensity for recurrence in to account when formulating treatment plans. For those patients who present with advanced local, regional or distant disease, the chance of cure is low, however novel therapies now hold promise for those patients with metastatic or unresectable disease. A greater understanding of the genetics of MTC has allowed the identification and timely treatment of family members at risk of developing inherited MTC. In this article we review the pathology, genetics and clinical syndromes associated with MTC. We go on to outline a contemporary approach to the evaluation and management of patients with clinically apparent disease, identify those who are at risk of developing the disease, as well as those who should be considered for prophylactic surgery. For those patients with advanced disease, we update the reader on advances in the field of targeted therapy, and on the role of external beam radiation therapy.