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Citation:
Gaillard F, Adams M, Familial medullary thyroid carcinoma. Reference article, Radiopaedia.org (Accessed on 24 Mar 2025) https://doi.org/10.53347/rID-59400
Familial medullary thyroid carcinoma (FMTC) is a genetic disorder closely related to multiple endocrine neoplasia type IIa (MEN2a) and multiple endocrine neoplasia type IIb (MEN2b). It is characterised by the development of medullary thyroid cancer.
FMTC is the result of mutations in the RET (rearranged during transfection) proto-oncogene (10q11.2) and is inherited in an autosomal dominant fashion 1. Unlike other multiple endocrine neoplasia syndromes, FMTC exclusively involves the thyroid gland 1.
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1. Sakorafas GH, Friess H, Peros G. The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy. (2008) Endocrine-related cancer. 15 (4): 871-84. doi:10.1677/ERC-08-0098 - Pubmed
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