A 58–year–old female presented with severe respiratory distress, diaphoresis, hypertension and tachycardia. Vital signs: BP 215/106, HR 139, RR 38, SaO2 48% on room air. She was intubated due to hypoxia. Her medical history was unobtainable. A large neck mass and a BNP value of 950 were noted. Initial differential diagnoses included congestive heart failure and pulmonary embolus (PE). Computerized Tomography (CT) scan of the chest ruled out PE, but a thyroid mass and a left adrenal mass were noted. A CT of the neck revealed an enormously enlarged thyroid gland with multiple calcifications, extending into the superior left anterior mediastinum, encasing the larynx and trachea with marked right deviation and narrowing. A CT of the abdomen revealed a 6 × 7 cm left suprarenal mass and mesenteric lymphadenopathy. Her BP was hard to control. Multiple Endocrine Neoplasia (MEN) 2A syndrome was suspected. Work up included catecholamines, metanephrines, aldosterone, creatinine and calcitonin which were normal. However, parathyroid hormone (82.8), antithyroglobulin antibody (49.5) and thyroid peroxidase (>125.0) were elevated. Thyroid and adrenal gland biopsies showed atypical thyroid cells and pheochromocytoma. She was transferred to a tertiary hospital for surgical excision of both masses.
Our patient’s pheochromocytoma, elevated parathyroid hormone, and thyroid mass with elevated thyroid peroxidase and atypical cytology suggested a diagnosis of MEN 2A. MEN syndrome describes endocrine neoplasm of two or more endocrine glands. There are two major types: MEN 1 and MEN 2 (subtypes MEN 2A and MEN 2B). MEN 1, first described in 1954, has an estimated prevalence of 1 in 20,000 to 40,000. It is characterized by pituitary adenoma, pancreatic tumors and parathyroid hyperplasia. It has been linked to the MEN1 gene mutation(s) on chromosome 11. MEN 2 has two subtypes (2A and 2B) and each with an estimated prevalence of 1 in 40,000. MEN 2A, first described in 1961, is characterized by parathyroid hyperplasia, medullary thyroid carcinoma and pheochromocytoma. MEN 2B, first described in 1965, is characterized by medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas and is associated with Marfanoid body habitus. Both MEN 2A and 2B have been linked to the RET proto–oncogene mutation(s).
The purpose of this case is to emphasize the importance of the work up for endocrine cancer by clinicians. This should include MEN and consideration of medical management prior to surgical intervention.
Figure 1CT neck – thyroid mass.
Figure 2Adrenal gland biopsy showing pheochromocytoma.