Multiple endocrine neoplasia type 2

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(Redirected from MEN-2A syndrome)

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Multiple endocrine neoplasia type 2
Synonyms MEN2, Sipple syndrome
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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


Autosomal dominant inheritance pattern
Multiple endocrine neoplasia type 2

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[edit]

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[edit]

MEN2A[edit]

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[edit]

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)[edit]

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[edit]

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[edit]

Treatment for MEN2 depends on the specific features of the condition in each individual. It may include surgery, medication, and regular monitoring.

See also[edit]

References[edit]


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