Yonsei Med J.  2009 Oct;50(5):709-712. 10.3349/ymj.2009.50.5.709.

Carney Triad in an Adult with Aggressive Behavior: The First Case in Korea

• Song HJ
• Kim KM
• Choi DI
• Park CK

• KMID: 1103827
• DOI: http://doi.org/10.3349/ymj.2009.50.5.709

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.

Keyword

Carney triad; gastrointestinal stromal tumor; paraganglioma; malignant

MeSH Terms

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

Figure

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  Fig. 1 Contrast-enhanced CT scan at the level of the gastric cardia shows a well-demarcated enhancing submucosal tumor (arrow) arising from the stomach (S) with exophytic growth.

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  Fig. 2 Contrast-enhanced CT scan at the level of the lower pole of the kidneys shows a less-enhancing lobulated tumor (arrow) in the left paraaortic area.

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  Fig. 3 Spindle cell type gastrointestinal stromal tumor with c-kit and CD34 diffusely positive in the cytoplasm.

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  Fig. 4 Paraganglioma with typical Zellballen pattern and tumor cells with moderately abundant granular basophilic cytoplasm. These tumor cells were negative for c-kit (inlet).

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