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Multiple Endocrine Neoplasia Type 2

Multiple endocrine neoplasia is part of a group of disorders that affect the body's hormone-producing glands. It has two major forms: type 1 and type 2. The multiple endocrine neoplasia type 2 (MEN2) is caused by mutations in the RET gene. It affects thyroid and adrenal glands. The prevalence of MEN2 is about 1 in 30,000 people.

Symptoms

The most common sign of MEN2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is a tumor of the adrenal glands that can cause dangerously high blood pressure. MEN2 is divided into three subtypes: type 2A, type 2B, and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A. The features of this disorder are relatively consistent within any one family.

Causes

Multiple endocrine neoplasia type 2 results from mutations in the RET gene. This gene provides instructions for producing a protein that is involved in signaling within cells. The RET protein triggers chemical reactions that instruct cells to respond to their environment, for example by dividing or maturing. Mutations in the RET gene overactivate the protein's signaling function, which can trigger cell growth and division in the absence of signals from outside the cell. This unchecked cell division can lead to the formation of tumors in endocrine glands and other tissues.

Treatment

Treatment for MEN2 involves surgery to remove the tumor. For medullary thyroid carcinoma, the whole thyroid gland must be removed.

 

Reference:

Genetics Home Reference, U. S. National Library of Medicine