title: Rhabdomyosarcoma in a patient with mosaic Klinefelter syndrome and transformation of immature teratoma.
abstract: 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.
authors.affiliation: Third Department of Internal Medicine, Gunma University School of Medicine, Showa Maebashi, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: J
authors.initials: J
authors.lastname: Tamura
authors.forename: S
authors.initials: S
authors.lastname: Orima
authors.forename: T
authors.initials: T
authors.lastname: Saitoh
authors.forename: M
authors.initials: M
authors.lastname: Sakuraya
authors.forename: T
authors.initials: T
authors.lastname: Maehara
authors.forename: A
authors.initials: A
authors.lastname: Shirota
authors.forename: A
authors.initials: A
authors.lastname: Maezawa
authors.forename: Y
authors.initials: Y
authors.lastname: Nojima
authors.forename: T
authors.initials: T
authors.lastname: Naruse
mesh_terms: D000328:Adult; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000473:pathology; D008297:Male; D008479:Mediastinal Neoplasms / Q000150:complications* / Q000473:pathology; D012208:Rhabdomyosarcoma / Q000150:complications* / Q000473:pathology; D013724:Teratoma / Q000473:pathology*