Carney Triad in an Adult with Aggressive Behavior: The First Case in Korea.
10.3349/ymj.2009.50.5.709
- Author:
Hye Jong SONG
1
;
Kyoung Mee KIM
;
Dong Il CHOI
;
Cheol Keun PARK
Author Information
1. Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kkmkys@skku.edu
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Carney triad;
gastrointestinal stromal tumor;
paraganglioma;
malignant
- MeSH:
Adult;
Carney Complex/*chemically induced/complications;
Female;
Gastrointestinal Stromal Tumors/*diagnosis/pathology;
Humans;
Korea;
Paraganglioma/*diagnosis/pathology;
Retroperitoneal Neoplasms/*diagnosis/pathology;
Stomach Neoplasms/*diagnosis/pathology
- From:Yonsei Medical Journal
2009;50(5):709-712
- CountryRepublic of Korea
- Language:English
-
Abstract:
Carney triad is a rare syndrome of unknown etiology characterized by having at least two out of three following neoplasms: gastrointestinal stromal tumor, pulmonary chondroma and extra-adrenal paraganglioma. About 100 cases have been reported worldwide. We report a case of Carney triad in a 42-year-old woman presented with a gastrointestinal stromal tumor in the stomach and a malignant functioning paraganglioma in the retroperitoneum that was fatal five years after diagnosis. The gastrointestinal stromal tumor was diagnosed as intermediate-risk of aggressive behavior and diffusely positive for c-kit whereas the retroperitoneal paraganglioma was negative for c-kit. Genetic analyses showed no mutations of KIT, PDGFRA, SDHB, SDHC, and SDHD genes in both tumors. To our best knowledge, this is the first case of Carney triad in Korea.
