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KMID : 0387820070140010083
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Clinical Pediatric Hematology-Oncology
2007 Volume.14 No. 1 p.83 ~ p.88
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A Case of 47, XXY/46, XX/46, XY Mosaic Klinefelter Syndrome with Mediastinal Germ Cell Tumor
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Lee Si-Un
Baek Hee-Jo
Han Dong-Kyun
Kook Hoon
Kim Chan-Jong
Lee Kyo-Seon
Song Sang-Yun
Choi Chan
Shin Myung-Geun
Hwang Tai-Ju
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Abstract
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Klinefelter syndrome (47, XXY) is a well documented abnormality of sex differentiation. Characteristic clinical findings are less prominent in mosaic Klinefelter syndrome. Klinefelter syndrome is often associated with mediastinal germ cell tumors. We report herewith a rare case of mosaic Klinefelter syndrome with mediastinal germ cell tumor. A 16-year-old boy presented with incidentally detected mediastinal mass on chest X-ray. A chest CT revealed about 5×5×5 cm sized heterogeneous opacification with calcifications in left anterior mediastinum. A complete surgical resection was performed. Pathologic findings demonstrated a mature cystic teratoma with small foci of germinoma components. Chromosomal analysis and fluoresent in situ hybridization using XY-probe showed 47, XXY/46, XX/46, XY mosaic Klinefelter syndrome. Without further chemoradiotherapy, he remains free of tumor at 1.5 years after the surgery.
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KEYWORD
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Klinefelter syndrome, Mosaicism, Mediastinal germ cell tumor
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