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KMID : 1141320180330030446
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Kosin Medical Journal
2018 Volume.33 No. 3 p.446 ~ p.453
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A novel RET mutation identified in a patient with pheochromocytoma and renal cell carcinoma Jae
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Kwon Jae-Wan
Jung Eui-Dal
Jeon Eon-Ju
Park Jung-Kyu
Lee Joon-Kee
Cho Chang-Ho
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Abstract
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Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2 and familial medullary thyroid cancer and in about 4?12% of apparent sporadic cases. Here, we report a 54-year-old man presenting with pheochromocytoma and renal cell carcinoma, who was identified as having a novel missense RET mutation.
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KEYWORD
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Pheochromocytoma, RET gene mutation, Von-Hippel-Lindau (VHL) disease
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