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Endocrine Abstracts (2015) 38 N1.1 | DOI: 10.1530/endoabs.38.N1.1

Nurse Session 1: Multiple Endocrine Neoplasia

Overview of multiple endocrine neoplasia

John Ayuk


University Hospital Birmingham, Birmingham, UK.

Multiple endocrine neoplasia (MEN) syndromes are rare autosomal-dominant disorders that predispose affected individuals to benign and malignant tumours involving two or more endocrine glands. Four major forms of MEN are recognised, each associated with the occurrence of specific tumours. MEN1 is due to germline-inactivating mutations of the MEN1 tumour-suppressor gene, and is associated with the occurrence of parathyroid, pancreatic islet and anterior pituitary tumours. MEN2 (previously MEN2A) and MEN3 (previously MEN2B) are due to mutations of the RET protoncogene; MEN2 is associated with medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid tumours, while MEN3 is characterised by the occurrence of MTC and phaeochromocytoma in association with a marfanoid habitus, mucosal neuromas and intestinal autonomic ganglion dysfunction. MEN4 was only recently described, and is due to heterozygous mutations in the CDKN1B tumour-suppressor gene; patients develop parathyroid and anterior pituitary tumours, along with gastric and bronchial carcinoids or gastrinomas.

Surgery is the treatment of choice for patients with symptomatic tumours, and biochemical and genetic screening of family members enables prophylactic surgery and early detection of tumours to optimise individual MEN patient care.

Volume 38

Society for Endocrinology BES 2015

Edinburgh, UK
02 Nov 2015 - 04 Nov 2015

Society for Endocrinology 

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