Unlike most other carcinomas arising from the follicular cell of the thyroid, medullary thyroid carcinoma (MTC) is a malignancy with neuroendocrine features, derived from the parafollicular C cell, which is of ectodermal neural crest origin. In most studies, MTC represents 3–12% of thyroid cancers, the majority of which are sporadic. However, in approximately 25–30% of cases, MTC is inherited, and is associated with one of three familial syndromes: multiple endocrine neoplasia (MEN) syndrome type 2A, MEN type 2B, and familial MTC (Table 10.1). In contrast to sporadic cases of MTC, germline RET proto-oncogene mutations are often detected in inherited cases, which may facilitate early diagnosis.
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