MEN 2A syndrome – multiple endocrine neoplasia with autosomal dominant transmisson

Abstract

Introduction: Multiple endocrine neoplasias (MEN) are rare and complex autosomal dominant inherited syndromes caused by germline RET mutation and characterized by the association of tumors of two or more endocrine glands in the same patient. It occurs in 1:30000 individuals, and is reported in approximately 500–1000 families worldwide. Sipple syndrome (MEN2A) is characterized by the association of medullary thyroid carcinoma (MTC) (in 80-100% of cases), uni- or bilateral pheochromocytoma (in over 50% of cases) and primary hyperparathyroidism (15% to 30% of cases) in the same patient. The diagnosis can be confirmed by imaging methods and early lab tests (calcitonin, methanephrines). Genetic confirmation is mandatory when the Sipple syndrome is suspected. Laparoscopy is the choice of approach in surgical treatment. Case report: The patient, a 20-years old with MEN 2A syndrome, which has been manifested by bilateral pheochromocytoma and medullary thyroid carcinoma. It was a familial form, having first degree relatives (mother) with pheochromocytoma. Genetic testing was not performed due to the death of the first degree relatives. After a full check-up (imaging methods, lab tests) adrenal and thyroid gland tumors were detected. The patient underwent laparoscopic adrenalectomy on her left in 2015, on the right in 2019 and total thyroidectomy in 2020. Histopathological examination of the adrenal glands revealed multicentric alveolar pheochromocytoma, the thyroid tissue - non-encapsulated medullary carcinoma. The postoperative evolution is favorable. She is undergoing hormone replacement therapy. Recent tests (25.05.20): PTH - 19,3 pg/ml,TSH- 0,2ul/ml, ionic calcium – 1,09 mmol/l, calcitonin decreased from 121 to 18.7 pg/ml. Conclusions: The radical approach to MEN 2A syndrome is very important from both a therapeutic and surgical point of view. Imaging check-up in combination with annual monitoring of calcitonin, chromogranin A, and metanephrines in a patient with MEN 2A syndrome is a practical way to supervise the case and make timely decisions for surgical intervention and to prevent complications. If a pheochromocytoma is detected, adrenalectomy should be performed before thyroidectomy or other surgery to avoid intraoperative catecholamine release. Laparoscopy is the choice of approach in surgical treatment. Limitations only arise because Keywords of technical difficulties or tumor size.