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      Multiple Endocrine Neoplasia

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          Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumours involving two or more endocrine glands; two major forms, referred to as MEN1 and MEN2, are recognized. MEN1 is characterized by parathyroid, pancreatic islet and anterior pituitary tumours, whilst MEN2 is characterized by medullary thyroid carcinoma (MTC) in association with phaeochromocytoma. There are three clinical variants, referred to as MEN2A, MEN2B and MTC-only. All these forms of MEN may be inherited as autosomal dominant syndromes. The MEN1 gene is on chromosome 11q13 and about 300 MEN1 mutations have been identified. These are of diverse types and are scattered throughout the coding region. There is also a lack of genotype-phenotype correlation. All these findings make it difficult to implement MEN1 mutational analysis in the clinical setting. The situation in MEN2 is more straightforward. The gene causing all three MEN2 variants is located on chromosome 10cen-10q11.2, and is the c-ret proto-oncogene which encodes a tyrosine kinase receptor with cadherin-like and cysteine-rich extracellular domains, and a tyrosine kinase intracellular domain. Specific mutations of c-ret have been identified for each of the three MEN2 variants and mutational analysis has been used in the diagnosis and management of patients and families with the MEN2 variants.

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          Most cited references 3

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          Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1

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            Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1.

            To evaluate patients with multiple endocrine neoplasia type 1 (MEN 1) for cutaneous manifestations. Survey during a 3-year period. The National Institutes of Health, a tertiary referral research hospital in Bethesda Md. A consecutive sample of 32 individuals with previously diagnosed MEN1 who were not preselected for the presence of skin lesions were examined for cutaneous abnormalities. None of the patients or family members were diagnosed as having tuberous sclerosis. Lesions were identified by clinical appearance, photographed, and confirmed histologically. To determine the frequency of skin lesions in patients with MEN1. Multiple facial angiofibromas were observed in 28 (88%) of the patients with MEN1, with 16 patients (50%) having 5 or more. Angiofibromas were clinically and histologically identical to those in individuals with tuberous sclerosis. Collagenomas were observed in 23 patients (72%). Also observed were cafe au lait macules in 12 patients (38%), lipomas in 11 patients (34%), confetti-like hypopigmented macules in 2 patients (6%), and multiple gingival papules in 2 patients (6%). Multiple angiofibromas, collagenomas, lipomas, confetti-like hypopigmented macules and multiple gingival papules are cutaneous manifestations of MEN1 and should be looked for in both family members of patients with MEN1 and individuals with hyperparathyroidism of other MEN1-associated tumors. Multiple angiofibromas can no longer be considered pathognomonic for tuberous sclerosis. The observation of angiofibromas in individuals without tuberous sclerosis necessitates further biochemical testing for MEN1.
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              Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease.

               C Siew-Eng (1996)

                Author and article information

                Horm Res Paediatr
                Hormone Research in Paediatrics
                S. Karger AG
                January 2002
                17 November 2004
                : 56
                : Suppl 1
                : 67-72
                Molecular Endocrinology Group, Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, UK
                48138 Horm Res 2001;56(suppl 1):67–72
                © 2001 S. Karger AG, Basel

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                Page count
                Figures: 2, Tables: 1, References: 19, Pages: 6


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