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Familial Cancer

, Volume 9, Issue 3, pp 449–457 | Cite as

Update multiple endocrine neoplasia type 2

  • Friedhelm Raue
  • Karin Frank-Raue
Article

Abstract

Multiple endocrine neoplasia type 2 (MEN2) is a autosomal dominat inherited tumour-syndrome caused by germline activating mutations of the RET proto-oncogene on chromosome 10. It is clinically characterized by the presence of medullary thyroid carcinoma (MTC), bilateral pheochromocytoma and primary hyperparathyroidism (MEN2A) within a single patient. Three distinct clinical forms have been described depending on the phenotype: the classical MEN 2A, MEN 2B, an association of MTC, pheochromocytoma and mucosal neuroma, (FMTC) familial MTC with a low incidence of other endocrinopathies. Each variant of MEN2 results from 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 classification into four risk levels utilizing the genotype-phenotype correlations. MEN 2 gives a unique model for early prevention and cure of cancer and for stratified roles of mutation-based diagnosis of carriers.

Keywords

Multiple endocrine neoplasia type 2 Pheochromocytoma Primary hyperparathyroidism Ganglioneuromarosis RET proto-oncogene Tyrosine kinase inhibitors 

Abbreviations

MEN

Multiple endocrine neoplasia

MTC

Medullary thyroid carcinoma

Ct

Calcitonin

Pheo

Pheochromcytoma

HPT

Primary hyperparathyroidism

FMTC

Familial medullary thyroid carcinoma

RET gene

Rearranged during transfection gene

CCH

C-cell hyperplasia

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Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  1. 1.Endocrine PracticeHeidelbergGermany
  2. 2.Endokrinologische GemeinschaftspraxisHeidelbergGermany

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