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The genetic code of MEN2: How does the RET gene affect your endocrine health?
Multiple endocrine neoplasia type 2 (MEN2) is a group of medical conditions involving tumors of the endocrine system, which may be benign or malignant. MEN2 primarily affects endocrine organs such as the thyroid, parathyroid, and adrenal glands, but may also affect endocrine tissue in other organs not traditionally considered endocrine. The main cause of MEN2 is mutation of the RET oncogene, which can affect cells derived from the neural crest and have a profound impact on the functioning of neural tissue in the body.
Most cases of MEN2 arise from gain-of-function mutations in the RET oncogene.
Types and symptoms of MEN2
MEN2 can be divided into several subtypes, including MEN2A and MEN2B. These subtypes have distinct characteristics, but all may be diagnosed as medullary thyroid cancer (MTC) for the first time. In MEN2A, medullary thyroid cancer is more likely to occur with pheochromocytoma and primary hyperthyroidism, whereas MEN2B is associated with medullary thyroid cancer, pheochromocytoma, and other features such as Marfanoid body type. Associated with mucosal neurofibromas.
The initial presentation of MEN2 is often seen in medullary thyroid cancer, making early diagnosis crucial.
Gene diagnosis and inheritance
MEN2 is inherited in an autosomal dominant manner, meaning that an affected person usually has an affected parent. Some cases may be caused by spontaneous new mutations in the RET gene, which are more common in individuals without a family history of the disease.
Diagnosis and genetic testing
MEN2 is usually suspected in people with a family history when they develop one of the two classic types of tumors (medullary thyroid carcinoma, pheochromocytoma, thyroid adenoma). Confirmation of the disease is confirmed through genetic testing for RET gene mutations.
Genetic testing allows diagnosis before tumors or symptoms appear.
Treatment and Management
Management of patients with MEN2 includes total thyroidectomy for medullary thyroid cancer, unilateral adrenalectomy for unilateral pheochromadenoma, or bilateral adrenalectomy when both glands are affected. In addition, pathological parathyroid glands can also be selectively removed for primary hyperthyroidism. Recommendations for genetic screening are intended to identify individuals at high risk so that they can be managed earlier.
Prognosis
The prognosis of MEN2 is mainly related to the stage prognosis of medullary thyroid cancer. Therefore, comprehensive thyroid surgery is essential for cases of medullary thyroid cancer, and thyroidectomy should be performed in advance for high-risk groups to improve treatment. Effect.
How can people more effectively identify and manage endocrine health risks, especially when genetic variation and family history may be involved?
