Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome.
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.
Beschorner
Rudi
R
Institute of Brain Research, Eberhard-Karls University, Medical School, Tuebingen, Germany. rudi.beschorner@med.uni-tuebingen.de
Wehrmann
Manfred
M
Ernemann
Ulrike
U
Bonin
Michael
M
Horber
Veronka
V
Oehl-Jaschkowitz
Barbara
B
Meyermann
Richard
R
Dufke
Andreas
A
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*