title: Pheochromocytoma in an 8-year-old patient with multiple endocrine neoplasia type 2A: implications for screening.
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.
authors.affiliation: Department of Surgery, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
authors.forename: Kathryn J
authors.initials: KJ
authors.lastname: Rowland
authors.forename: Rebecca D
authors.initials: RD
authors.lastname: Chernock
authors.forename: Jeffrey F
authors.initials: JF
authors.lastname: Moley
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis*; D002648:Child; D055088:Early Detection of Cancer; D005260:Female; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010673:Pheochromocytoma / Q000175:diagnosis*; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics
chemical_list: D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human
keywords: adrenalectomy; multiple endocrine neoplasia type 2; pheochromocytoma; screening