A novel RET mutation identified in a patient with pheochromocytoma and renal cell carcinoma
10.7180/kmj.2018.33.3.446
- Author:
Jae Wan KWON
1
;
Eui Dal JUNG
;
Eon Ju JEON
;
Jung Kyu PARK
;
Joon Kee LEE
;
Chang Ho CHO
Author Information
1. Department of Internal Medicine, school of medicine, Catholic university of Daegu, Daegu, Korea. jed15@cu.ac.kr
- Publication Type:Case Report
- Keywords:
Pheochromocytoma;
RET gene mutation;
Von-Hippel-Lindau (VHL) disease
- MeSH:
Carcinoma, Renal Cell;
Humans;
Male;
Middle Aged;
Multiple Endocrine Neoplasia;
Pheochromocytoma;
Thyroid Neoplasms
- From:Kosin Medical Journal
2018;33(3):446-453
- CountryRepublic of Korea
- Language:English
-
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.
