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Chang Ho Cho 1 Article
A novel RET mutation identified in a patient with pheochromocytoma and renal cell carcinoma
Jae Wan Kwon, Eui Dal Jung, Eon Ju Jeon, Jung Kyu Park, Joon Kee Lee, Chang Ho Cho
Kosin Med J. 2018;33(3):446-453.   Published online December 31, 2018
DOI: https://doi.org/10.7180/kmj.2018.33.3.446
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Abstract PDFPubReader   CrossRef-TDMCrossref - TDM

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.


KMJ : Kosin Medical Journal