Pheochromocytoma in an 8‐year‐old patient with multiple endocrine neoplasia type 2A: Implications for screening
Kathryn J. Rowland, Rebecca D. Chernock, Jeffrey F. Moley
Abstract
Kathryn J. Rowland, Rebecca D. Chernock, Jeffrey F. Moley
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.
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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.
Key concepts: Medicine, Pheochromocytoma, Multiple endocrine neoplasia, Multiple endocrine neoplasia type 2, Endocrine system, Internal medicine, General surgery, Oncology