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Pathology - Multiple Endocrine Neoplasia
This is a familial endocrine tumor syndrome that can affect several distinct glands and therefore has diverse presentation. MEN 1 is inherited as an autosomal dominant trait and most patients have mutation in a gene on chromosome 11 called the menin gene. Endocrine tumors arise most commonly in the parathyroid glands (notice this patient has clinically severe hypercalcemia due to excess PTH). The presenting condition in this example is a bleeding peptic ulcer owing to a gastrinoma, however other forms of enteropancreatic tumors also occur.
Pituitary adenomas are also a common characteristic of MEN 1, which was the situation in the patient’s mother. Adrenal tumors and nonendocrine cancers such as lipomas also arise. The additional MEN disorders include MEN 2A and 2B, which are rare and stem from mutations in the ret -oncogene. These disorders likewise have an autosomal dominant pattern of inheritance but are most typically associated with medullary thyroid cancer (secreting calcitonin) and pheochromocytoma (adrenal medullary tumor).
This is a familial endocrine tumor syndrome that can affect several distinct glands and therefore has diverse presentation. MEN 1 is inherited as an autosomal dominant trait and most patients have mutation in a gene on chromosome 11 called the menin gene. Endocrine tumors arise most commonly in the parathyroid glands (notice this patient has clinically severe hypercalcemia due to excess PTH). The presenting condition in this example is a bleeding peptic ulcer owing to a gastrinoma, however other forms of enteropancreatic tumors also occur.
Pituitary adenomas are also a common characteristic of MEN 1, which was the situation in the patient’s mother. Adrenal tumors and nonendocrine cancers such as lipomas also arise. The additional MEN disorders include MEN 2A and 2B, which are rare and stem from mutations in the ret -oncogene. These disorders likewise have an autosomal dominant pattern of inheritance but are most typically associated with medullary thyroid cancer (secreting calcitonin) and pheochromocytoma (adrenal medullary tumor).
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