A 27-year-old man was found to have a mediastinal tumour and the histological diagnosis was immature teratoma. Remission was achieved by chemotherapy and total resection. However, he developed anaemia and leukoerythroblastosis after 2 years of remission, and was referred to our hospital. Rhabdomyosarcoma cells were detected in the bone marrow and pleural effusion. Moreover, karyotype analysis of peripheral blood and bone marrow cells revealed mosaic-type Klinefelter syndrome. We diagnosed the case as transformation of teratoma into rhabdomyosarcoma in Klinefelter syndrome. Although intensive chemotherapy was performed, the patient died with meningeal infiltration.
HalseHMellemgaardANielsenJCancer incidence in men with Klinefelter syndrome. Br J Cancer1995; 71: 416–420.
4.
OgurGSengunZArel-KilicGClinical and cytogenic studies of two cases of Klinefelter syndrome with hereditary retinoblastoma and rhabdomyosarcoma. Cancer Genet Cytogenet1996; 89: 77 − 81.
5.
ComiterCVKibelASRichieJPPrognostic features of teratomas with malignant transformation: a clinico-pathological study of 21 cases. J Urol1998; 159: 859–863.
