Rare hereditary endocrine cancer syndrome characterised primarily by tumours of the parathyroid glands, endocrine gastroenteropancreatic tract, and anterior pituitary
Aetiology
Autosomal dominant inheritance
'Classic' tumour suppressor in endocrine tissues
Mutations occur throughout MEN1 gene located on chromosome 11q13
Mutations typically result in loss/reduced protein function
Pathophysiology
Exact pathogenesis unclear
MEN1 genes are involved in how a cell responds to DNA damage, chromatin remodelling and cell signalling pathway regulation e.g. PI3K/mTOR
Will typically present with a pituitary adenoma; it is also possible for the patient to develop hyperparathyroidism and pancreatic tumours, such as insulinoma
Can develop many other tumours - thymic/bronchial carcinoids, gastric carcinoid, functioning/non-functioning adrenal, soft tissue tumours e.g. lipomas, angiofibromas
Prognosis
50% of affected individuals will die as a direct result of the disease
Premature mortality observed in high proportion of affected individuals
Leaading causes of excess deaths are malignant pancreatic neuroendocrine tumour and thymic carcinoids
Investigations
Indications for germline MEN1 testing
Meeting clinical criteria for MEN1 (i.e. 2+ MEN1-associated tumours or diagnosis of familial MEN1)
Features suspicious of MEN1
First degree relative of family member with a known MEN1 tumour
Testing should be undertaken ASAP e.g. by 5 years of age for asymptomatic individuals
Management
Goal of management is to prevent premature morbidity and mortality from MEN1-associated tumours, while preserving quality of life
Combination of clinical evaluation, biochemical and radiological screening
Management often based on that of sporadic counterparts as there is a lack of MEN1-specific treatments
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