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Multiple endocrine neoplasia 2A (MEN 2A) syndrome
Bratislavske Lekarske Listy
|February 20, 2018
Summary
Multiple Endocrine Neoplasia type 2A (MEN 2A) syndrome can cause pheochromocytoma. Genetic testing and surgical intervention, such as bilateral adrenalectomy, are crucial for managing MEN 2A patients and improving outcomes.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia type 2A (MEN 2A) is a genetic disorder affecting endocrine systems.
- It commonly involves medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.
Purpose of the Study:
- To investigate the clinical, biochemical, imaging, and genetic aspects of MEN 2A in affected families.
- To evaluate the outcomes of surgical management for pheochromocytoma in MEN 2A patients.
Main Methods:
- Clinical examination, biochemical screening for catecholamine metabolites, and various imaging techniques (CT, MRI, MIBG, PET CT) were employed.
- Genetic analysis focused on RET proto-oncogene mutations.
- Surgical interventions included bilateral and unilateral adrenalectomy.
Main Results:
- Familial pheochromocytoma was confirmed in 10 patients, with bilateral involvement in 5.
- RET proto-oncogene mutations were identified in exons 10, 11, and 16 in 10 patients.
- Post-adrenalectomy, patients lived 5-15 years without recurrence or catecholamine overproduction, though one patient died from cardiovascular failure post-surgery.
Conclusions:
- Bilateral pheochromocytoma and thyroid carcinoma warrant comprehensive clinical and genetic screening of family members.
- Bilateral adrenalectomy is indicated for symptomatic patients or those with tumors exceeding 3 cm, requiring lifelong hormone replacement.
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