Multiple Endocrine Neoplasia Syndromes



Multiple endocine neoplasia (MEN) syndromes

Multiple endocrine neoplasia (MEN) refers to a number of inherited syndromes involving tumours of more than one endocrine gland.


MEN 1 syndrome

The MEN 1 syndrome refers to an inherited disorder involving tumours of the pituitary gland (pituitary adenoma), the parathyroid glands (hyperparathyroidism) and the islet cell glands in the pancreas (islet cell tumours). Occasionally other tumours may be associated with the syndrome including carcinoid tumours of the thymus, adrenal tumours and various skin tumours.

The gene causing the syndrome has been identified (the Menin gene). Genetic testing of families can generally be undertaken to determine which family members are affected and likely to develop tumours at a later stage of life. Treatment requires specific surgery for each tumour at presentation.


MEN 2A syndrome

The MEN 2A syndrome refers to an inherited disorder involving tumours of the thyroid gland (medullary carcinoma of the thyroid), the parathyroid glands (hyperparathyroidism) and the tumours of the adrenal glands (phaeochromocytomas). Occasionally other tumours, such as sarcomas, may be associated with the syndrome.

The gene causing the syndrome has been identified (the RET oncogene). Genetic testing of families can generally be undertaken to determine which family members are affected and likely to develop tumours at a later stage of life. Treatment requires specific surgery for each tumour at presentation.


MEN 2B syndrome

The MEN 2B syndrome refers to an inherited disorder involving tumours of the thyroid gland (medullary carcinoma of the thyroid), tumours of the adrenal glands (phaeochromocytomas) and a variety of skin and mucosal growths, often affecting the tongue and lips. It may also be associated with a disease affecting the bowel in infants (Hirschprung's disease) and presents earlier in life than MEN 2A syndrome.

The gene causing the syndrome has been identified (the RET oncogene). Genetic testing of families can generally be undertaken to determine which family members are affected and likely to develop tumours at a later stage of life. Treatment requires specific surgery for each tumour at presentation.

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