An update on medullary carcinoma thyroid

Abstract

Medullary thyroid carcinoma is a rare neuroendocrine tumor arising from parafollicular cells of the thyroid gland. It occurs in both hereditary and sporadic forms which are associated with the gain of function mutations in rearranged during transfection proto-oncogene on chromosome 10q11.2. There are various syndromic and sporadic clinical presentations, and the understanding of the molecular pathophysiology and its genotype–phenotype correlation has led to mutation-based risk stratification and guidelines for evaluation and management. The authors present a current review of the literature with regard to pathophysiology, molecular basis, clinical presentation along with genotype–phenotype correlation and guidelines for evaluation and management.

Keywords

• medullary carcinoma thyroid
• multiple endocrine neoplasia
• rearranged during transfection