Medullary thyroid cancer: early detection and novel treatments

Medullary thyroid cancer (MTC) is derived from the parafollicular cells of the thyroid. Understanding the molecular biology behind specific mutations of the RET gene and their prognostic implications have led to the establishment of tailored treatment modalities for certain patients. We review the most recent studies on the molecular biology, calcitonin screening, diagnosis, imaging, and treatment of MTC.

Newly identified rearranged during transfection point mutations have helped with MTC prognosis and have resulted in the establishment of new treatment guidelines. Screening for MTC in the United States with basal serum calcitonin for patients with thyroid nodules would cost $11,793 per life-year saved (LYS), compared with colonoscopy and mammography screening. For metastatic or recurrent disease, neck ultrasound, chest computed tomography scan, liver MRI, bone scintigraphy, and axial skeleton MRI have been proven superior to 18F-FDG PET/computed tomography. For patients with nonoperable metastatic disease, novel chemotherapeutic agents, such as vandetanib, targeting rearranged during transfection, vascular endothelial growth factor receptor and epidermal growth factor receptor, are showing promise. Such agents are currently in phase II trials.

There have been several recent advances in the diagnosis, molecular biology, imaging, and treatment options of MTC. By potentially downstaging of disease, and treating metastatic disease more effectively, overall survival and outcomes of patients may improve.