Kosin Medical Journal (고신대학교 의과대학 학술지)

Kosin University College of Medicine (고신대학교 의과대학)
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A novel RET mutation identified in a patient with pheochromocytoma and renal cell carcinoma

  • Kwon, Jae Wan (Department of Internal Medicine, school of medicine, Catholic university of Daegu) ;
  • Jung, Eui Dal (Department of Internal Medicine, school of medicine, Catholic university of Daegu) ;
  • Jeon, Eon Ju (Department of Internal Medicine, school of medicine, Catholic university of Daegu) ;
  • Park, Jung Kyu (Department of Internal Medicine, school of medicine, Catholic university of Daegu) ;
  • Lee, Joon Kee (Department of Internal Medicine, school of medicine, Catholic university of Daegu) ;
  • Cho, Chang Ho (Department of Pathology, School of medicine, Catholic university of Daegu)
  • Received : 2016.08.18
  • Accepted : 2016.09.21
  • Published : 2018.12.31
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Abstract

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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References

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