title: Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome.
abstract: Primary extradural ependymomas are rare neoplasms usually of the myxopapillary type. Reports on malignant primary extradural ependymal tumors are exceptionally rare. We here report on a 3-year-old boy with Schinzel-Giedion syndrome (SGS), who presented with lumbar spina bifida occulta and a progressive extraspinal lesion in the subcutaneous sacrococcygeal region. Microscopic examinations revealed an uncommon ependymal tumor with well-differentiated regions reflecting myxopapillary ependymoma and highly anaplastic regions with numerous mitoses, necroses, ependymal rosettes and ependymoblastic rosettes. Final neuropathologic diagnosis was an extraspinal anaplastic ependymal tumor with myxopapillary and ependymoblastic differentiation, corresponding to WHO grade IV. SGS is a very rare disorder with a likely autosomal recessive pattern of inheritance. So far, 42 cases have been reported, among them 7 were diagnosed to have malignant neoplasms, including three malignant sacrococcygeal teratomas, two sacrococcygeal primitive neuroectodermal tumors (PNET), one hepatoblastoma and one malignant kidney tumor. The present case is the first report on an ependymal tumor with a mixture of myxopapillary, anaplastic and ependymoblastic features and the first report on an ependymal tumor arising on the genetic background of SGS.
authors.affiliation: Institute of Brain Research, Eberhard-Karls University, Medical School, Tuebingen, Germany. rudi.beschorner@med.uni-tuebingen.de
authors.forename: Rudi
authors.initials: R
authors.lastname: Beschorner
authors.forename: Manfred
authors.initials: M
authors.lastname: Wehrmann
authors.forename: Ulrike
authors.initials: U
authors.lastname: Ernemann
authors.forename: Michael
authors.initials: M
authors.lastname: Bonin
authors.forename: Veronka
authors.initials: V
authors.lastname: Horber
authors.forename: Barbara
authors.initials: B
authors.lastname: Oehl-Jaschkowitz
authors.forename: Richard
authors.initials: R
authors.lastname: Meyermann
authors.forename: Andreas
authors.initials: A
authors.lastname: Dufke
mesh_terms: D016543:Central Nervous System Neoplasms / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D002874:Chromosome Mapping; D004806:Ependymoma / Q000150:complications* / Q000235:genetics / Q000473:pathology; D030342:Genetic Diseases, Inborn / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012196:Review Literature as Topic; D012445:Sacrococcygeal Region / Q000473:pathology*