Table 1 Laboratory data on admission Fig. 1 Visual finding of the chest
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1 A Case of Klinefelter Syndrome Associated with Mediastinal Germ Cell Tumor Presenting with a Prominent Gynecomastia Tomomi HARAI,*" Hiromichi TANEICHI,*1 Hisano SAKAKC Keiko NOMURA,*2 Hirokazu KANEGANE*2 and Toshio MIYAWAKI*2 DePartment of Pediatrics, Niigata JA Itoigawa General Hospital Department of Pediatrics, Graduate School of Medicine, University of Toyama Abstract We described a 13-year-old boy with Klinefelter syndrome associated with a mediastinal germ cell tumor. He initially presented with_ ;a prominent gynecomastia, which might be considered to be a symptom of Klinefelter syndrome. The serum levels of AFP and Ĉ-hcg were extremely elevated. The germ cell tumor was treated with chemotherapy and total resection of the tumor. After he achieved complete remission, his gynecomastia was improved. The gynecomastia might be associated with not only Klinefelter syndrome but also the j3-hcg-producing germ cell tumor. Key words: Klinefelter syndrome, germ cell tumor, gynecomastia Reprint request to Hiromichi Taneichi, Department of Pediatrics, Niigata JA Itoigawa General Hospital, 457-1, Takehana, Itoigawa, Japan
2 Table 1 Laboratory data on admission Fig. 1 Visual finding of the chest
3 Table 2 Laboratory data of hormones Fig. 2 Chest X-ray on admission An arrow indicates a huge mass in the right middle chest. Fig. 3 Enhanced CT of the chest on admission Space occupying lesion (15 ~ 10 ~ 13 cm) was observed in the right chest. The tumor contains a heterogenous mass and a calcification indicated by an arrow.
4 Fig. 4 Clinical course of the patient Closed circle and square indicate serum levels of AFP and f3-hcg, respectively. Fig. 5 Histological features of the tumor (Hematoxylin and eosin staining) Sheets of primitive round to oval tumor cells are arranged loosely in the reticular form (black arrow). The cells are positive for both cytokeratin and AFP.Adjacent to those primitive cells, immature cartilage is also observed (white arrow).
5 1) Smyth CM, Bremner WJ: Klinefelter syndrome. Arch Intern Med 158: , ) Bebb GG, Grannis FW, Jr, Paz IB, et al: Mediastinal germ cell tumor in a child with precocious puberty and Klinefelter syndrome. Ann Thorac Surg 66: , ) Aguirre D, Nieto K, Lazos M, et al: Extragonadal germ cell tumors are often associated with Klinefelter syndrome. Human Pathology 37: , ) Baranzelli MC, Kramar A, Bouffet E, et al: Prognostic factors in children with localized malignant nonseminomatous germ cell tumors. J Clin Oncol 17: , ) Marina N, London WB, Frazier AL, et al: Prognostic factors in children with extragonadal malignant germ cell tumors: A pediatric intergroup study. J Clin Oncol 24: , ) Beyer J, Stenning S, Gerl A, et al: High-dose versus conventional-dose chemotherapy as first-salvage treatment in patients with non-seminomatous germ-cell tumors: A matched-pair analysis. Ann Oncol 13: , ) Chevreau C, Droz JP, Pico JL, et al: Early intensified chemotherapy with autologus bone marrow transplantation in first line treatment of poor risk non-seminomatous germ cell tumours. Preliminary results of French randomized trial. Eur Urol 23: , ) Rosti G, Giorgi UD, Wandt H, et al: First-line high-dose chemotherapy for patients with poor prognosis extragonadal germ cell tumors: The experience of the European Bone Marrow Transplantation (EBMT) Solid Tumors Workin Party. Bone Marrow Transplant 34: , ) Motzer RJ, Nichols CJ, Margolin KA, et al: Phase III randomized trial of conventional-dose chemotherapy with or without high-dose chemotherapy and autologous hematopoietic stem-cell rescue as first-line treatment for patients with poor-prognosis metastatic germ cell tumors. J Clin Oncol 25: , 2007
Fig. 1. Chest X-ray film on admission showed a mass in the left middle lung field and multiple nodular densities in the bilateral lung fields. Fig. 3.
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