title: Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome.
abstract: We describe a boy with Schinzel-Giedion syndrome who developed refractory sacrococcygeal germ cell tumor with elements of embryonal carcinoma and immature teratoma. He developed local recurrence soon after tumor resection. The tumor was highly resistant to platinum-based combination chemotherapy, local irradiation, and salvage chemotherapy. Frequent infections resulted in a delay in treatment, although apparent fragility had not been observed clinically. He died from tumor progression at 32 months of age. Intensification of chemotherapy does not seem to be feasible for tumors in patients with Schinzel-Giedion syndrome.
authors.affiliation: *Department of Pediatrics, Sapporo Hokuyu Hospital Departments of †Pediatrics ‡Pediatric Surgery, Tenshi Hospital, Sapporo §Department of Pediatrics, Obihiro-Kosei General Hospital, Obihiro, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kishimoto
authors.forename: Ryoji
authors.initials: R
authors.lastname: Kobayashi
authors.forename: Nozomi
authors.initials: N
authors.lastname: Yonemaru
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Takao
authors.initials: T
authors.lastname: Tsujioka
authors.forename: Hirozumi
authors.initials: H
authors.lastname: Sano
authors.forename: Daisuke
authors.initials: D
authors.lastname: Suzuki
authors.forename: Kazue
authors.initials: K
authors.lastname: Yasuda
authors.forename: Masahiko
authors.initials: M
authors.lastname: Suzuki
authors.forename: Akiko
authors.initials: A
authors.lastname: Ando
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Tonoki
authors.forename: Susumu
authors.initials: S
authors.lastname: Iizuka
authors.forename: Kimiaki
authors.initials: K
authors.lastname: Uetake
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Kobayashi
mesh_terms: D000015:Abnormalities, Multiple; D002352:Carrier Proteins / Q000235:genetics; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications*; D006228:Hand Deformities, Congenital / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D009154:Mutation; D009264:Nails, Malformed / Q000150:complications*; D009373:Neoplasms, Germ Cell and Embryonal / Q000209:etiology / Q000235:genetics / Q000628:therapy*; D009687:Nuclear Proteins / Q000235:genetics; D012445:Sacrococcygeal Region
chemical_list: D002352:Carrier Proteins; D009687:Nuclear Proteins; C425066:SETBP1 protein, human