Abstract
Multiple endocrine neoplasia type 2 (MEN2) is diagnosed in 25% of all cases of medullary thyroid cancer (MTC). Familial and sporadic forms of MTC account for only 5–8% of all types of differentiated thyroid cancers. Despite being a rare syndrome, MEN2 is important to recognize with its two subtypes MEN2A and MEN2B, so as to allow instauration of proper treatment and of the adequate surveillance of patients, as well as to offer early detection of the disease in their children and family. The familial nature of MEN2 is due to mutations of the RET proto-oncogene, the detection of which is now generally accessible. The type of mutation of the RET gene, the levels of pre- and postoperative calcitonin, and the TNM stage of the MTC allow to define the proper timing and extent of the surgical intervention, the prognosis of the disease, and the frequency and type of surveillance necessary.
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Rohmer, V., Prunier-Mirebeau, D., Potorac, I. (2019). Multiple Endocrine Neoplasia-Type 2. In: Colao, A., Jaffrain-Rea, ML., Beckers, A. (eds) Polyendocrine Disorders and Endocrine Neoplastic Syndromes. Endocrinology. Springer, Cham. https://doi.org/10.1007/978-3-319-73082-0_9-2
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