Multiple endocrine neoplasia type 2: 2007 update.
BACKGROUND
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.


CONCLUSIONS
MEN-2 provides a unique model for early prevention and cure of cancer and for stratified roles of mutation-based diagnosis of carriers.
Raue
Friedhelm
F
friedhelm.raue@raue.endokrinologie.de
Frank-Raue
Karin
K
D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D013507:Endocrine Surgical Procedures; D005821:Genetic Techniques; D006801:Humans; D008967:Molecular Biology; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D009154:Mutation; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D018570:Risk Assessment; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human