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Revision as of 12:10, 17 March 2025
MEN2B or Multiple Endocrine Neoplasia Type 2B is a rare autosomal dominant genetic condition that primarily affects the endocrine system. It is characterized by the development of medullary thyroid carcinoma, pheochromocytoma, and multiple mucosal neuromas. MEN2B is a subtype of Multiple Endocrine Neoplasia (MEN), a group of medical disorders that affect the body's endocrine system.
Symptoms
The most common symptoms of MEN2B include:
- Medullary thyroid carcinoma
- Pheochromocytoma
- Mucosal neuromas
- Marfanoid habitus
- Intestinal ganglioneuromatosis
Genetics
MEN2B is caused by mutations in the RET gene. This gene provides instructions for producing a protein that is involved in signaling within cells. Mutations in the RET gene can lead to the development of tumors in the endocrine system.
Diagnosis
Diagnosis of MEN2B is based on clinical features, family history, and genetic testing. Genetic testing can confirm a diagnosis and identify family members who carry the mutation.
Treatment
Treatment for MEN2B typically involves surgery to remove the affected glands. Medications may also be used to manage symptoms.
