MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 (MEN1)

MEN1 GENE ANALYSIS IN PATIENTS WITH MULTIPLE ENDOCRINE NEOPALSIA TYPE 1

Multiple Endocrine Neoplasia type 1 is an autosomal dominant inherited disorder characterised by the triad of parathyroid hyperplasia, pancreatic endocrine tumours and pituitary adenomas. A clinical diagnosis of MEN1 can be made in a patient with at least two of these three main MEN1-related endocrine tumours. Familial MEN1 is defined by the above criteria plus at least one first-degree relative with at least one of the three tumours. In addition, MEN1 patients may have carcinoid tumours, adrenal tumours, lipomas, angiofibromas, collagenomas and meningiomas. Germline variants in the MEN1 gene are found in approximately 87% of patients with familial MEN1 and 45% of sporadic cases (Ellard et al 2005 Clin Endocrinol 62:169-175).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.

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