SAT-223 Metastatic Pheochromocytoma in MEN2A: Clinical Features Laboratory Data and Radiological Findings of a Rare Association - Case Report

摘要

Background: Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant syndrome caused by inactivating mutations in the RET proto-oncogene. It is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO) and hyperparathyroidism (HPTH). MTC is one of the initial manifestations in 90% of patients. PHEO affects approximately 50% of patients, is almost always benign (98% of cases), usually bilateral and confined to the adrenal glands. HPTH occurs in 20-30% of patients. The clinical presentation, evolution and prognosis of metastatic PHEO associated with RET mutations are not yet well known.