Abstract

RODRIGUES, Pedro  and  CASTEDO, José Luís. MEN type 2 syndrome. Arq Med [online]. 2012, vol.26, n.6, pp.239-244. ISSN 2183-2447.

Multiple endocrine neoplasia type 2 is an autosomal dominant syndrome caused by germline mutations of RET proto-oncogene. it has a high penetrance of medullary thyroid carcinoma and may be associated with pheochromocytoma and hyperparathyroidism. MEN 2A, MEN 2B and familial medullary thyroid carcinoma are the main clinical forms described. Each variant comes from different mutations, showing a good genotype-phenotype correlation with regard to age of onset and aggressiveness of medullary thyroid carcinoma and presence of other endocrine tumours. RET mutations were classified into four risk categories with distinct recommendations on timing of prophylactic thyroidectomy. MEN type 2 provides a model for the importance of genetic testing in early diagnosis and treatment of mutation carriers.

Keywords : Men 2; medullary thyroid carcinoma; ret gene mutations; thyroidectomy.

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