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Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature

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Abstract

Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors which occur almost exclusively in infants and young children. There have been only 17 cases of AT/RT in adults reported in the medical literature and the rarity of this tumor makes the diagnosis in adults difficult. We describe a case of an AT/RT of the spinal cord in an adult. A 43-year old woman presented with neck and left upper extremity pain. An MRI demonstrated a mass lesion in the dorsal spinal cord extending from C4 to C6. The patient underwent a C3 through C7 laminectomy. In consultation with senior pathologists at other institutions, the lesion was initially diagnosed as a rhabdoid meningioma. Molecular genetic studies revealed monosomy 22 and loss of expression of the INI1 gene in 22q11.2. Subsequently, immunohistochemical studies revealed the absence of INI1 gene expression in the malignant cells, supporting the diagnosis of AT/RT. The patient underwent three additional surgical procedures for recurrent disease throughout the neuraxis secondary to leptomeningeal spread of the tumor. Despite aggressive surgical resection, adjuvant chemotherapy and radiation therapy, the patient succumbed to the disease two and a half years after her initial presentation. An unrestricted autopsy was performed. To our knowledge, this is the first case of a spinal atypical teratoid/rhabdoid tumor in an adult fully documented with molecular, immunohistochemical, cytogenetic and autopsy findings.

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Acknowledgements

Supported in part by a grant from the NIH (CA46274) to JAB. Technical assistance from Luanne Wainwright and Lu Tan is greatly appreciated.

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Authors and Affiliations

  1. Department of Pathology, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH, 03756, USA

    Elena L. Zarovnaya, Jonathan P. Park & C. Harker Rhodes

  2. Naval Medical Center San Diego, San Diego, USA

    Henry F. Pallatroni

  3. Center for Proton Radiation Therapy, Paul Scherrer Institute, University of Zurich, Villigen, Switzerland

    Eugen B. Hug

  4. Section of Neurosurgery, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH, 03756, USA

    Perry A. Ball

  5. Department of Radiology, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH, 03756, USA

    Laurence D. Cromwell

  6. Section of Hematology and Oncology, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH, 03756, USA

    J. Marc Pipas

  7. Section of Neurology, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH, 03756, USA

    Camilo E. Fadul & Louise P. Meyer

  8. Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Jaclyn A. Biegel

  9. Department of Pathology, Washington University School of Medicine, St. Louis, MO, USA

    Arie Perry

Authors
  1. Elena L. Zarovnaya
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  2. Henry F. Pallatroni
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  3. Eugen B. Hug
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  4. Perry A. Ball
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  7. Camilo E. Fadul
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  9. Jonathan P. Park
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  10. Jaclyn A. Biegel
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  11. Arie Perry
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  12. C. Harker Rhodes
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Corresponding author

Correspondence to C. Harker Rhodes.

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Zarovnaya, E.L., Pallatroni, H.F., Hug, E.B. et al. Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. J Neurooncol 84, 49–55 (2007). https://doi.org/10.1007/s11060-007-9339-x

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  • DOI: https://doi.org/10.1007/s11060-007-9339-x

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