MEN2

Multiple endocrine neoplasia type 2 (MEN2) is a medical condition characterized by the occurrence of tumors in multiple endocrine glands. It is a rare condition, affecting approximately 1 in 30,000 individuals. MEN2 is further classified into three subtypes: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).

Classification

MEN2 is classified into three subtypes based on the presence of specific tumors and other features:

• MEN2A is the most common subtype, accounting for about 70-80% of all MEN2 cases. It is characterized by the presence of medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid hyperplasia or adenomas.

• MEN2B is a more aggressive subtype, accounting for about 5% of all MEN2 cases. It is characterized by MTC, pheochromocytoma, mucosal neuromas, and a distinctive physical appearance.

• Familial medullary thyroid carcinoma (FMTC) is characterized by the presence of MTC alone. It accounts for about 15-20% of all MEN2 cases.

Signs and symptoms

The signs and symptoms of MEN2 vary depending on the subtype and the specific tumors present. Common symptoms include:

• A lump in the neck due to MTC
• High blood pressure, sweating, and rapid heart rate due to pheochromocytoma
• Bone pain and fractures, kidney stones, or constipation due to hyperparathyroidism

Genetics

MEN2 is caused by mutations in the RET gene. This gene provides instructions for making a protein that is involved in signaling within cells. Mutations in the RET gene lead to the production of a protein that is constantly turned on, leading to uncontrolled cell growth and the formation of tumors.

Diagnosis

The diagnosis of MEN2 is based on clinical findings, family history, and genetic testing. Genetic testing can identify mutations in the RET gene that cause MEN2.

Treatment

The treatment of MEN2 depends on the specific tumors present. Surgery is the main treatment for MTC and pheochromocytoma. Medications may be used to manage symptoms of pheochromocytoma and hyperparathyroidism.

See also

• Multiple endocrine neoplasia
• Medullary thyroid cancer
• Pheochromocytoma
• Hyperparathyroidism

MEN2 Resources
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