Multiple endocrine neoplasia type 2
(Redirected from MEN-2A syndrome)
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| Multiple endocrine neoplasia type 2 | |
|---|---|
| |
| Synonyms | MEN2, Sipple syndrome |
| Pronounce | |
| Specialty | Endocrinology |
| Symptoms | Medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism |
| Complications | Metastasis, hypertension, hypercalcemia |
| Onset | Usually in adulthood |
| Duration | Lifelong |
| Types | MEN2A, MEN2B |
| Causes | Genetic mutation in the RET proto-oncogene |
| Risks | Family history of MEN2 |
| Diagnosis | Genetic testing, biochemical testing |
| Differential diagnosis | Multiple endocrine neoplasia type 1, sporadic medullary thyroid carcinoma |
| Prevention | Prophylactic thyroidectomy |
| Treatment | Surgery, radiotherapy, chemotherapy |
| Medication | Tyrosine kinase inhibitors |
| Prognosis | Variable, depends on early detection and treatment |
| Frequency | 1 in 30,000 people |
| Deaths | |
Multiple endocrine neoplasia type 2 (MEN2) is a hereditary condition associated with tumors of the endocrine (hormone producing) glands. It is characterized by the occurrence of medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenoma or hyperplasia. There are three subtypes of MEN2, namely MEN2A, MEN2B, and Familial Medullary Thyroid Carcinoma (FMTC).
Genetics
MEN2 is an autosomal dominant disorder, which means that it can be passed on to offspring by just one affected parent. It is caused by mutations in the RET proto-oncogene on chromosome 10. The RET gene provides instructions for producing a protein that is involved in signaling within cells, which can trigger cell division and maturation.
Subtypes
MEN2A
MEN2A is the most common subtype, accounting for about 70-80% of all MEN2 cases. It is characterized by medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenoma or hyperplasia.
MEN2B
MEN2B is less common and more aggressive than MEN2A. It is characterized by medullary thyroid carcinoma, pheochromocytoma, and multiple mucosal neuromas. Unlike MEN2A, parathyroid disease is not typically seen in MEN2B.
Familial Medullary Thyroid Carcinoma (FMTC)
FMTC is the least common subtype of MEN2. It is characterized by medullary thyroid carcinoma only, without the other features of MEN2A or MEN2B.
Diagnosis
Diagnosis of MEN2 is based on clinical findings and genetic testing. Genetic testing can identify mutations in the RET gene that cause MEN2. It is recommended for individuals with a family history of MEN2 or related conditions.
Treatment
Treatment for MEN2 depends on the specific features of the condition in each individual. It may include surgery, medication, and regular monitoring.
See also
References
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Contributors: Prab R. Tumpati, MD
