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Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel–Giedion syndrome

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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.

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Acknowledgments

We are grateful to the family for their excellent help and cooperation. The authors thank Dr. A. Schinzel (Institute of Medical Genetics, University of Zurich, Switzerland) for his consent in our genetic diagnosis. Furthermore, we thank Dr. U. Jaenig (German Pediatric Tumor Registry, Institute for Pediatric Pathology, University of Kiel, Germany) and Dr. T. Pietsch (Brain Tumor Reference Centre, Department of Neuropathology, University of Bonn, Germany) for reference diagnosis.

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Authors and Affiliations

  1. Institute of Brain Research, Eberhard-Karls University, Medical School, Tuebingen, Germany

    Rudi Beschorner & Richard Meyermann

  2. Institute of Pathology, Eberhard-Karls University, Medical School, Tuebingen, Germany

    Manfred Wehrmann

  3. Department of Neuroradiology, Eberhard-Karls University, Medical School, Tuebingen, Germany

    Ulrike Ernemann

  4. Department of Medical Genetics, Eberhard-Karls University, Medical School, Tuebingen, Germany

    Michael Bonin & Andreas Dufke

  5. Childrens Hospital, Eberhard-Karls University, Medical School, Tuebingen, Germany

    Veronka Horber

  6. Praxis fuer Humangenetik, Biomedical Center, Homburg/Saar, Germany

    Barbara Oehl-Jaschkowitz

  7. Institute of Brain Research, University of Tuebingen, Calwerstr. 3, 72076, Tuebingen, Germany

    Rudi Beschorner

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  1. Rudi Beschorner
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  2. Manfred Wehrmann
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Correspondence to Rudi Beschorner.

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Rudi Beschorner and Manfred Wehrmann contributed equally to the work.

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Beschorner, R., Wehrmann, M., Ernemann, U. et al. Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel–Giedion syndrome. Acta Neuropathol 113, 339–346 (2007). https://doi.org/10.1007/s00401-006-0179-0

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  • DOI: https://doi.org/10.1007/s00401-006-0179-0

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