| Abstrakt: |
INTRODUCTION/OBJECTIVES: Multiple Endocrine Neoplasia Type 2 (MEN 2) is a complex hereditary disorder with a genetic predisposition toward the development of endocrine tumors. MEN2a complex is the most common variant which comprises medullary thyroid carcinoma (MTC), pheochromocytoma and multiglandular parathyroid hyperplasia. MTC is usually the initial presenting feature of this complex and a specific RET codon mutation can help predict the disease and how it will behave. CASE PRESENTATION: We present a 44-year-old female patient with MEN-2 Syndrome with past medical history of medullary thyroid carcinoma and total thyroidectomy. Postsurgical assestment for recurrent disease was done regularly including the measurement of serum calcitonin, calcium and urine metanephrines and normetanephrines. Surprisingly, 27 years later patient had elevated serum calcitonin. PET-CT showed pulmonary and infracarinal lymph node metastatic disease. Lymph nodes were surgically removed and pathohistology confirmed metastatic medullary thyroid carcinoma. The patient was treated with 131I-MIBG. Unfortunately, the disease progressed and in spite of treatment the patient had died. As her son was a carrier of MEN2a mutation 634, prophylactic thyroidectomy was performed at the age of 8 and he continued with regular follow up. CONCLUSION: MEN2a is a serious genetic condition with possible unfavorable outcome. In our case, MTC relapsed even 27 years after thyroidectomy. Therefore, close follow up and prophylactic thyroidectomy is crucial in patients with confirmed mutation. [ABSTRACT FROM AUTHOR] |
