Illuminating medullary thyroid carcinoma

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine condition that develops in the parafollicular C cells of the thyroid gland.1 It makes up 3%-5% of all thyroid cancers, with a 10-year mortality rate of about 50%.2

There are two types of MTC, each with its own genetic and clinical characteristics: hereditary and sporadic. Many people with hereditary MTC have germline mutations in the rearranged during transfection (RET) proto-oncogene, which manifests as multiple endocrine neoplasia 2 syndrome (MEN2). It makes up about 25% of MTC cases and is usually bilateral and multifocal.3 The hereditary form is also associated with an increased risk of aggressive disease and necessitates extensive therapy due to its genetic predisposition.

Sporadic MTC, on the other hand, accounts for about 75%–80% of all MTC diagnoses.3 It typically presents as unilateral and is not associated with a family history of the disease.