MULTIPLE ENDOCRINE NEOPLASIA SYNDROME 1 (MEN1)
MEN1 syndrome is characterized by the occurrence of multiple endocrine tumours that are hereditary
What is Multiple Endocrine Neoplasia Syndrome 1 (MEN1)?
MEN1 syndrome is caused by mutations in the MEN1 gene, which deactivates or disrupts the function of the tumour-suppressor protein menin, resulting in multiple endocrine and non- endocrine tumours.
TopHow common is MEN1 syndrome and how is it inherited?
The prevalence of the disease is 2-20 per 100,000 in the general population and is inherited in an autosomal dominant pattern
TopHow does MEN1 syndrome present and at what age do the tumours develop?
Carriers of the mutation develop:
- primary hyperparathyroidism in 90% of cases
- Enteropancreatic tumours in 30-70% of cases
- pituitary tumours in 30-40% of cases
- adrenocortical tumours 40%
- pheochromocytomas <1%
- facial angiofibromas 85%
- lipomas 30% and
- other tumours
Such tumours develop much earlier than their corresponding sporadic tumours, with a youngest age of onset of 5 years and a peak age of 50 years.
TopIs there an increased risk of malignancy?
Malignant pancreatic neuroendocrine tumours (NETs), and thymic carcinoma are the most common causes of death in these patients.
TopWhat should carriers do?
As these tumours, whether benign or malignant, increase the morbidity rate and sometimes reduce survival rates, regular monitoring is mandatory for immediate intervention when and where needed.
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