A case of mediastinal germ cell tumor with Klinefelter's syndrome

• Published in: Nihon Kokyuki Geka Gakkai zasshi (Kyoto, 1992) Vol. 15; no. 1; pp. 28 - 32
• Main Authors: Iwamaru, Arifumi, Oyama, Takahiko, Kamiyama, Ikuo, Goto, Taichiro, Yamamoto, Manabu, Inoue, Yoshimasa, Ohtsuka, Takashi, Horiguchi, Hayanori, Yamauchi, Tokuko, Abiko, Tomohiro, Sawafuji, Makoto, Watanabe, Masazumi, Kawamura, Masafumi, Horinouchi, Hirohisa, Sakai, Syouji, Kobayashi, Kouichi
• Format: Journal Article
• Language: English
• Published: The Japanese Association for Chest Surgery 15.01.2001
• Subjects: Klinefelter's syndrome; mediastinal germ cell tumor
• ISSN: 0919-0945; 1881-4158
• DOI: 10.2995/jacsurg.15.28

We report a mediastinal germ cell tumor in a 10-year-old boy with Klinefelter's syndrome. An anterior mediastinal tumor was diagnosed in another hospital and referred to our department. Chest CT scan revealed a 10 cm-anterior mediastinal mass invading the pericardium. After percutaneous needle biopsy, a mature teratoma was diagnosed. There was no evidence of metastasis. Genetic analysis, interestingly, showed Klinefelter's syndrome (47XXY). The levels of serum AFP, hCG and hCG-β were high, 289ng/ml, 1, 150mIU/ml and hCG-β 7.90ng /ml respectively. Because the malignant component was highly suggested, three courses of preoperative chemotherapy with CDDP, VP-16 and Bleomycin (PEB) were performed. After chemotherapy, the serum levels of tumor markers fell to within normal limits . We performed a resection of the tumor with median sternotomy on September 9, 1998. There was neither invasion nor adhesion to surrounding organs and complete resection was possible . His postoperative course was uneventful. Pathological findings revealed a mature teratoma with placental site trophoblast. Therefore germ cell tumor, combined type was finally diagnosed. Additional six courses of postoperative chemotherapy were performed and he has been on follow-up in outpatient clinic. There was no sign of recurrence and metastasis . Several articles have reported that Klinefelter's syndrome is present in 20% of patients with medias tinal germ cell tumor and the reported incidence of germ cell tumor in Klinefelter's syndrome patients is 1.5/1, 000, which represents a 50-fold higher level than for the general population. The pathogenesis has been suggested to be related to the genetic abnormality and the abnormal hormonal status in Klinefelter's syndrome.