Abstract
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited disorder, characterised by the occurrence of tumours of the parathyroid glands, the pancreatic islets, the pituitary gland, the adrenal glands and neuroendocrine carcinoid tumours. Carcinoid tumours of the thymus and pancreatic-duodenal gastrinomas are the most harmful tumour types, since these tumours have malignant potential and curative treatment is difficult to achieve.MEN1 is caused by germline mutations of the MEN1 tumour suppressor gene. Mutation analysis enables mutation carriers to be identified. MEN1 patients and their family members, family members of mutation carriers and patients who are clinically suspected to be carriers of a MEN1 gene mutation are eligible for mutation analysis. MEN1-associated tumours can be detected and treated at an early stage through periodical clinical monitoring of mutation carriers.
Highlights
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited syndrome
MEN1 is characterised by the occurrence of tumours of the parathyroid glands, the pancreatic islets, the anterior pituitary gland and the adrenal glands, as well as neuroendocrine carcinoid tumours, often at a young age
We provide guidelines for MEN1 mutation analysis and periodical clinical monitoring
Summary
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited syndrome. Non-endocrine manifestations of MEN1 include angiofibromas, collagenomas, lipomas and leiomyomas (Table 1). The prevalence of MEN1 is 2-3 per 100,000, and is equal among males and females. MEN1 and multiple endocrine neoplasia type 2 (MEN2) are two distinct syndromes. In MEN2, patients frequently develop medullary thyroid carcinoma and pheochromocytoma. MEN1 is caused by germline mutations of the MEN1 gene [1, 2]. Since the discovery of the gene in 1997, mutation analysis has become available. Carriers of a MEN1 gene germline mutation can be monitored periodically to identify MEN1-associated lesions at a presymptomatic stage. We give an overview of the recent developments concerning the aetiology of MEN1 as Hereditary Cancer in Clinical Practice 2005; 3(1)
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