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• W1993291276 abstract "Multiple endocrine neoplasia type 2 (MEN-2) is an autosomal dominant tumour syndrome caused by germline-activating mutations of the RET proto-oncogene. It is clinically characterised by the presence of medullary thyroid carcinoma (MTC), bilateral pheochromocytoma and primary hyperparathyroidism (MEN-2A) within a single patient. Three distinct clinical forms have been described depending on the phenotype: (1) classic MEN-2A, (2) MEN-2B, an association of MTC, pheochromocytoma and mucosal neuroma and (3) familial MTC (FMTC), which is associated with a low incidence of other endocrinopathies. Each variant of MEN-2 results from a different RET gene mutation, with a good genotype-phenotype correlation.Genetic testing detects nearly 100% of mutation carriers and is considered the standard of care for all first-degree relatives of patients with newly diagnosed MTC. Recommendations on the timing of prophylactic thyroidectomy and extent of surgery are based on a three risk-level classification using the genotype-phenotype correlations.MEN-2 provides a unique model for early prevention and cure of cancer and for stratified roles of mutation-based diagnosis of carriers." @default.
• W1993291276 created "2016-06-24" @default.
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• W1993291276 date "2007-01-01" @default.
• W1993291276 modified "2023-10-06" @default.
• W1993291276 title "Multiple Endocrine Neoplasia Type 2: 2007 Update" @default.
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• W1993291276 doi "https://doi.org/10.1159/000110589" @default.
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