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تسجيل

Multiple endocrine neoplasia 2 (MEN2) Syndrome (OMIM 171400)

المؤلف:  Wass, J. A. H., Arlt, W., & Semple, R. K. (Eds.).

المصدر:  Oxford Textbook of Endocrinology and Diabetes

الجزء والصفحة:  3rd edition , p1062

2026-09-05

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 In the early 1970s, Sizemore and his colleagues first described the syndrome of MEN2 and subclassified the syndrome into MEN2A and MEN2B. The MEN2A syndrome is an autosomal dominantly inherited disorder, characterized by a predisposition to medullary thyroid carcinoma, phaeochromocytoma, and hyperparathyroidism. MEN2B predisposes to the same tumour types but is also associated with mucosal neuromas and mesodermal abnormalities. In 1993, activating mutations in the RET proto- oncogene on chromosome 11 were identified as the molecular drivers of MEN2 syndrome.

Increasing clinical data has led to the realization that very specific genotype– phenotype correlations exist in MEN2 syndrome. Overall, inherited mutations in the RET gene predict a 30– 50% lifetime risk of developing a PC and mutations in codon 634 and 918 of the RET gene are most commonly associated with the development of PC. The median age of onset is ~35 years and patients with a codon 634 mutation in RET have a 30% lifetime risk of developing bilateral tumours. Typically, patients with RET gene mutations will present with medullary thyroid carcinoma as the presenting disease but PC can be the presenting feature in ~5% of patients. Similar to NF1, extra- adrenal and malignant tumours are very rarely associated with MEN2 and the secretory pattern of RET mutated PC is predominately adrenergic.