Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management

Friedhelm Raue, Karin Frank-Raue

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Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant tumour syndrome caused by germline activating mutations of the RET proto-oncogene. It has a strong penetrance of medullary thyroid carcinoma (MTC) and can be associated with bilateral pheochromocytoma and primary hyperparathyroidism (MEN2A) within a single patient or family…