Abstract
The first case of multiple endocrine neoplasia (MEN) 2 was documented in 1961. Over the past half century, our understanding of MEN 2 has expanded from small kindreds with seemingly inherited constellations of endocrine tumors to three distinct autosomal dominant inherited syndromes: MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC), which are transmitted by a specific oncogene. Our improved understanding of the rearranged during transfection (RET) proto-oncogene and the clear genotypic–phenotypic relationships it confers to patients with MEN 2 syndrome has significantly changed the diagnosis and clinical management of this disease. As a result, guidelines based on RET genotyping have been developed with an aim to prophylactically treat the most lethal of the MEN 2 endocrine tumors, medullary thyroid cancer (MTC), before it becomes clinically apparent, and to screen for and treat the other two disease manifestations, pheochromocytoma and hyperparathyroidism, in time to reduce morbidity to the patients.
This chapter discusses the historical perspectives on MEN 2, and reviews clinical manifestations of the MEN 2 syndrome subtypes, changes in the diagnoses and management of the involved endocrine tumors (MTC, pheochromocytoma, hyperparathyroidism), RET-MEN 2 genotypic and phenotypic correlations, and current screening and management guidelines.
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Pasupuleti, L., Kuo, J. (2015). Multiple Endocrine Neoplasia 2 Syndromes. In: Pasieka, J., Lee, J. (eds) Surgical Endocrinopathies. Springer, Cham. https://doi.org/10.1007/978-3-319-13662-2_61
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DOI: https://doi.org/10.1007/978-3-319-13662-2_61
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