Abstract
Case Presentation: A 19-year-old female with multiple endocrine neoplasia type 2A secondary to a p.C634R mutation in the RET proto-oncogene presented for ongoing evaluation of persistent medullary thyroid carcinoma (MTC). She had a total thyroidectomy with central and bilateral lateral neck dissections at the age of 16 years at an outside institution. Final surgical pathology demonstrated a bilateral MTC (largest focus 3.7 cm in the right lobe), and 2 of 53 lymph nodes were positive. Final cancer staging was stage IVA (T2N1bM0). Postoperatively, the patient was identified to have a persistently elevated serum calcitonin level. At the initial visit to the University of Texas MD Anderson Cancer Center, no cervical lymphadenopathy was palpated, and the patient's calcitonin and carcinoembryonic antigen levels were 788 pg/mL (normal, ≤5 pg/mL) and 2.7 ng/mL (normal range, 0.0 to 3.0 ng/mL), respectively. Neck ultrasound (US) did not identify any pathologic lymphadenopathy, and a computed tomography (CT) chest and abdomen did not reveal distant metastases or adrenal mass. A contrast-enhanced CT scan of the neck documented a 1.5-cm right-sided enhancing mass in the retropharyngeal space (Fig. 1). What is the diagnosis?
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