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KMID : 0311120090500050709
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Yonsei Medical Journal
2009 Volume.50 No. 5 p.709 ~ p.712
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Carney Triad in an Adult with Aggressive Behavior: The First Case in Korea
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Song Hye-Jong
Kim Kyoung-Mee
Choi Dong-Il
Park Cheol-Keun
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Abstract
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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.
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KEYWORD
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Carney triad, gastrointestinal stromal tumor, paraganglioma, malignant
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