J Korean Surg Soc.  2012 Mar;82(3):185-189. 10.4174/jkss.2012.82.3.185.

Bilateral adrenal pheochromocytoma with a germline L790F mutation in the RET oncogene

• Min JW
• Park YJ
• Kim HJ
• Chang MC

• KMID: 2212221
• DOI: http://doi.org/10.4174/jkss.2012.82.3.185

Abstract

About ten percent of pheochromocytomas are associated with familial syndrome. Hereditary pheochromocytoma has characteristics of early onset, multifocality and bilaterality. We experienced a case of 44-year-old man with bilateral pheochromocytoma without evidence of medullary thyroid cancer. Genetic test detected a L790F germline mutation of RET oncogene. The author found a necessity for genetic tests in cases of young-age, bilateral pheochromocytoma.

Keyword

Pheochromocytoma; RET; Germ-line mutation

MeSH Terms

Adult
Germ-Line Mutation
Humans
Oncogenes
Pheochromocytoma
Thyroid Neoplasms

Figure

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  Fig. 1 Abdominal computed tomography scan shows huge mass in both adrenal glands.

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  Fig. 2 Single photon emission computed tomography image of I-123 metaiodobenzylguanidine scan shows bilateral adrenal uptake.

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  Fig. 3 (A) Cut surface of right adrenal gland shows well-demarcated, multilocular cystic mass. It contains bloody, dark red brown coloredfluid. (B) Cut surface of left adrenal gland shows soft, variegated, reddish pink mass with a few small cysts.

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  Fig. 4 Genetic testing detected mutation in codon 790 (L790F) of RET oncogene.

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  Fig. 5 Family pedigree shows no evidence of medullary thyroid cancer or endocrine disease. All of his family members are alive. Arrow indicates index patient.

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