Clin Pediatr Hematol Oncol.  2017 Apr;24(1):75-79. 10.15264/cpho.2017.24.1.75.

Pheochromocytoma Developed in a Boy with Multiple Endocrine Neoplasia Type 2A Confirmed by the RET Proto-Oncogene Mutation

Affiliations
  • 1Department of Pediatrics, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Korea. yejeeshim@dsmc.or.kr
  • 2Department of Pediatric Surgery, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Korea.
  • 3Department of Radiology, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Korea.
  • 4Department of Pathology, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Korea.
  • 5Department of Nuclear Medicine, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Korea.

Abstract

A 9-year-old boy presented with increased sweating and abdominal pain. His mother and uncle had been diagnosed with bilateral pheochromocytoma and medullary thyroid carcinoma. Magnetic resonance imaging of the boy's abdomen revealed a 7.5 cm×7.0 cm×6.0 cm mass with a thick peripheral enhancing wall and fluid-fluid level at the right suprarenal region. His ¹²³I-meta-iodobenzylguanidine (MIBG) scan showed a large mass with increased MIBG uptake in the right adrenal gland. The levels of serum norepinephrine, urine epinephrine/norepinephrine, metanephrine, and vanillylmandelic acid were elevated. He, his mother, and two sisters tested positive for the known mutation of multiple endocrine neoplasia type 2A, Cys634Tyr in RET proto-oncogene. Laparoscopic tumor excision and right adrenalectomy were performed. Final diagnosis was pheochromocytoma with malignant behavior, based on adrenal gland scoring scale. However, there was no overt metastasis. After surgery, his symptoms resolved and abnormal laboratory tests were normalized.

Keyword

Pheochromocytoma; Multiple endocrine neoplasia; RET proto-oncogene; Child

MeSH Terms

3-Iodobenzylguanidine
Abdomen
Abdominal Pain
Adrenal Glands
Adrenalectomy
Child
Diagnosis
Humans
Magnetic Resonance Imaging
Male*
Metanephrine
Mothers
Multiple Endocrine Neoplasia Type 2a*
Multiple Endocrine Neoplasia*
Neoplasm Metastasis
Norepinephrine
Pheochromocytoma*
Proto-Oncogenes*
Siblings
Sweat
Sweating
Thyroid Neoplasms
Vanilmandelic Acid
3-Iodobenzylguanidine
Metanephrine
Norepinephrine
Vanilmandelic Acid
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