MEN 2A Family

• Published in: Journal of clinical research in pediatric endocrinology Vol. 9; no. 1; p. 22
• Main Authors: Pekkolay, Zafer, Soylu, Hikmet, Belma Özlem Tural Balsak, Güven, Mehmet, Tuzcu, Alpaslan Kemal
• Format: Journal Article
• Language: English
• Published: Istanbul Galenos Publishing House 01-06-2017
• Subjects: Neuroendocrine tumors; Thyroid cancer; Urine
• ISSN: 1308-5727; 1308-5735

MEN 2 is a rare genetic disorder with autosomal dominant inheritance. Here, we present a family in which MEN2A was detected in the index case and two brothers had detected pheochromocytoma and medullary thyroid cancer. MEN 2A index case; Index case: A thirty-six-year-old male patient presented with headache, sweating, and palpitations. Urine catecholamines were significantly higher. A bilateral adrenal mass was detected and bilateral surrenalectomy was performed. Plasma calcitonin level was high. A hypoechoic, coarse calcific thyroid nodule was detected. The patient underwent total thyroidectomy and neck dissection. The parathormone (PTH) level was normal. The RET mutation was positive in the patient. It was decided to screen the family. Second case: A 50-year-old male patient was called for MEN 2A family screening. Bilateral adrenal mass was detected. Bilateral surrenalectomy was performed. Calcitonin level of 267 pg/mL was detected. Hypoactive thyroid nodule aspiration was reported as AUS. Total thyroidectomy and central neck dissection were applied to the patient. Cranial involvement was also observed in the PET/CT scan for metastasis. A mass in the left cerebellum (hemangioblastoma?) was detected in brain MR. Third case: A forty-six-year-old female patient was evaluated; a mass with size of 56x64x50 mm in the left adrenal and normal right adrenal were detected. Metanephrine and normetanephrine were significantly high in the urine. Calcitonin level was significantly high. Firm thyroid nodule was detected. PTH was normal. Left adrenalectomy and total thyroidectomy were planned. The patient refused to be treated. MEN 2A syndrome is the most common medullary thyroid cancer. Bilateral pheochromocytoma is common. Hyperparathyroidism is observed in 20-30% of patients.