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Pheochromocytoma in an 8-year-old patient with multiple endocrine neoplasia type 2A: implications for screening
Kathryn J Rowland1, Rebecca D Chernock, Jeffrey F Moley
1Department of Surgery, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
Abstract:
Childhood pheochromocytoma in the setting of multiple endocrine neoplasia type 2 (MEN2) remains rare and has not been reported under the age of 12. We present an 8-year-old female with known MEN 2A, C634Y RET mutation, diagnosed with a 6 cm pheochromocytoma requiring laparoscopic adrenalectomy. Given this patient's age at diagnosis, screening guidelines should recommend annual screening beginning at age 8 for patients with MEN 2B or MEN 2A codons 630 or 634 RET mutations.