MEN 2A SYNDROME WITH LONG EVOLUTION – CASE REPORT
Abstract:
Multiple endocrine neoplasia (MEN) are genetic syndromes characterized by the coexistence of two or more endocrine tumours in the same subject. They are classified in MEN type 1 and MEN type 2, which has three subtypes – MEN 2A, MEN 2B and familial medullary thyroid carcinoma (FMTC). Over 70 RET protooncogene mutations are incriminated in the pathogenesis of MEN type 2 syndrome. MEN type 2 syndrome occurs in 1:30000 individuals, the most frequent being MEN 2A (80%), followed by FMTC (15%) and MEN 2B (5%). Almost every patient with MEN 2A develops MTC, pheochromocytoma approximately 50% and 30% of them develop parathyroid tumours. We report a case with FMTC, operated and relapsed bilateral pheochromocytoma, having first degree relatives (brother and sister) with thyroid nodules and surgery for pheochromocytoma. RET mutation screening has not been investigated. Low compliance of the patient and his caregivers resulted in both therapeutic and preventive measures delay for the patient and his offspring.
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