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Journal of Neuro-Oncology

, Volume 84, Issue 1, pp 49–55 | Cite as

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

  • Elena L. Zarovnaya
  • Henry F. Pallatroni
  • Eugen B. Hug
  • Perry A. Ball
  • Laurence D. Cromwell
  • J. Marc Pipas
  • Camilo E. Fadul
  • Louise P. Meyer
  • Jonathan P. Park
  • Jaclyn A. Biegel
  • Arie Perry
  • C. Harker Rhodes
Clinical Study–Patient Studies

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.

Keywords

Atypical teratoid/rhabdoid tumor AT/RT FISH INI1 gene Monosomy 22 

Notes

Acknowledgements

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

References

  1. 1.
    Rorke LB, Packer RJ, Biegel JA (1995) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neurooncol 24(1):21–8PubMedCrossRefGoogle Scholar
  2. 2.
    Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85:56–65PubMedCrossRefGoogle Scholar
  3. 3.
    Rorke LB, Biegel JA (2000) Atypical teratoid/Rhabdoid tumor. In: Kleihues P, Cavenee WK (eds) The WHO classification of tumors: pathology and genetics of tumors of the nervous system. IARCPress, Lyon, pp 145–148Google Scholar
  4. 4.
    Horn M, Sclote W, Lerch KD, Steudel WI, Harms D, Thomas E (1992) Malignant rhabdoid tumor: primary intracranial manifestation in an adult. Acta Neuropathol 83:445–448PubMedCrossRefGoogle Scholar
  5. 5.
    Cossu A, Massarelli G, Manetto V, Viale G, Tanda F, Bosineu L, Iuzzolino P, Cossu S, Padovani R, Eusebi V (1993) Rhabdoid tumors of the central nervous system. Virchows Arch A Pathol Anat Histopathol 422(1):81–85PubMedCrossRefGoogle Scholar
  6. 6.
    Fisher BJ, Siddiqui J, Macdonald D, Cairney AE, Ramsey D, Munoz D, Del Maestro R (1996) Malignant rhabdoid tumor of brain: an aggressive clinical entity. Can J Neurol Sci 23:257–263PubMedGoogle Scholar
  7. 7.
    Ashraf R, Bentley RC, Awan AN, McLendon RE, Ragozzino MW (1997) Implantation metastasis of primary malignant rhabdoid tumor of the brain in an adult (one case report). Med Pediatr Oncol 28:223–227PubMedCrossRefGoogle Scholar
  8. 8.
    Byram D (1998) Regarding Weiss et al.: Int J Radiat Oncol Biol Phys 41:1013–1019; 1998 [Letter to the Editor]. Int J Radiat Oncol Biol Phys 45:247Google Scholar
  9. 9.
    Sugita Y, Takahashi Y, Hayashi I, Morimatsu M, Okamoto K, Shigemori M (1999) Pineal malignant rhabdoid tumor with chondroid formation in an adult. Pathol Int 49:1114–1118PubMedCrossRefGoogle Scholar
  10. 10.
    Arrazola J, Pedrosa I, Mendez R, Saldana C, Scheithauer BW, Martinez A (2000) Primary malignant rhabdoid tumor of the brain in an adult. Neuroradiology 42:363–367PubMedCrossRefGoogle Scholar
  11. 11.
    Bruch LA, Hill DA, Cai DX, Levy BK, Dehner LP, Perry A (2001) A role for fluorescence in situ hybridization detection of chromosome 22q dosage in distinguishing atypical teratoid/rhabdoid tumors from medulloblastoma/central primitive neuroectodermal tumor. Hum Pathol 32:156–162PubMedCrossRefGoogle Scholar
  12. 12.
    Lutterbach J, Liegibel J, Kock D, Madlinger A, Frommhold H, Pagenstecher A (2001) Atypical teratoid/rhabdoid tumors in adult patients: case report and review of the literature. J Neurooncol 52:49–56PubMedCrossRefGoogle Scholar
  13. 13.
    Pimentel J, Silva R, Pimentel T (2003) Primary malignant rhabdoid tumors of the central nervous system: considerations about two cases of adulthood presentation. J Neurooncol 61: 121–126PubMedCrossRefGoogle Scholar
  14. 14.
    Kawaguchi T, Kumabe T, Watanabe M, Tominaga T (2004) Atypical teratoid/rhabdoid tumor with leptomeningeal dissemination in an adult. Acta Neurochir (Wien) 146(9):1033–1038CrossRefGoogle Scholar
  15. 15.
    Erickson ML, Johnson R, Bannykh SI, de Lotbiniere A, Kim JH (2005) Malignant rhabdoid tumor in a pregnant adult female: literature review of central nervous system rhabdoid tumors. J Neurooncol 74(3):311–319PubMedCrossRefGoogle Scholar
  16. 16.
    Raisanen J, Biegel JA, Hatanpaa KJ, Judkins A, White CL, Perry A (2005) Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol 15(1):23–28PubMedCrossRefGoogle Scholar
  17. 17.
    Rezanko T, Tunakan M, Kashraman A, Sucu HK, Gelal F, Akkol I (2006) Primary rhabdoid tumor of the brain in an adult. Neuropathology 26(1):57–61PubMedCrossRefGoogle Scholar
  18. 18.
    Chen YW, Wong TT, Ho DM, Huang PI, Chang KP, Shiau CY (2006) Impact of radiotherapy for pediatric CNS atypical teratoid/rhabdoid tumor (single institute experience). Int J Radiat Oncol Biol Phys 64(4):1038–1043PubMedCrossRefGoogle Scholar
  19. 19.
    Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394(6689):203–206PubMedCrossRefGoogle Scholar
  20. 20.
    Biegel JA, Zhou J-Y, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59(1):74–79Google Scholar
  21. 21.
    Perry A, Fuller CE, Judkins AR, Dehner LP, Biegel JA (2005) INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol 18(7):951–958PubMedCrossRefGoogle Scholar
  22. 22.
    Packer RJ, Biegel JA, Blaney S, Finlay J, Geyer JR, Heideman R, Hilden J, Janss AJ, Kun L, Vezina G, Rorke LB, Smith M (2002) Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop. J Pediatr Hematol Oncol 24(5):337–342PubMedCrossRefGoogle Scholar
  23. 23.
    Lath R, Unosson D, Blumbergs P, Stahl J, Brophy BP (2003) Rhabdoid glioblastoma: a case report. J Clin Neurosci 10:325–328PubMedCrossRefGoogle Scholar
  24. 24.
    Ben Taib NO, Nagy N, Salmon I, David P, Brotchi J, Witte O (1999) Les tumeurs rhabdoides malignes du systeme nerveux central: a propos d’une cas. Neurochirurgie 45:237–242Google Scholar
  25. 25.
    Roberts CWM, Orkin SH (2004) The SWI/SNF complex—chromatin and cancer. Nat Rev Cancer 4(2):133–142PubMedGoogle Scholar
  26. 26.
    Vries RG, Bezrookove V, Zuijderduijn LM, Kia SK, Houweling A, Oruetxebarria I, Raap AK, Verrijzer CP (2005) Cancer-associated mutations in chromatin remodeler hSNF5 promote chromosomal instability by compromising the mitotic checkpoint. Genes Dev 19(6):665–670PubMedCrossRefGoogle Scholar
  27. 27.
    Isakoff MS, Sansam CG, Tamayo P, Subramanian A, Evans JA, Fillmore CM, Wang X, Biegel JA, Pomeroy SL, Mesirov JP, Roberts CW (2005) Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation. Proc Natl Acad Sci USA. 102(49):17745–17750PubMedCrossRefGoogle Scholar
  28. 28.
    Klochendler-Yeivin A, Picarsky E, Yaniv M (2006) Increased DNA damage sensitivity and apoptosis in cells lacking the Snf5/Ini1 subunit of the SWI/SNF chromatin remodeling complex. Mol Cell Biol 26(7):2661–2674PubMedCrossRefGoogle Scholar
  29. 29.
    Judkins AR, Mauger J, Ht A, Rorke LB, Biegel JA (2004) Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 28(5):644–650PubMedGoogle Scholar
  30. 30.
    Hoot AC, Russo P, Judkins AR, Perlman EJ, Biegel JA (2004) Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol 28(11):1485–1491PubMedCrossRefGoogle Scholar
  31. 31.
    Modena P, Lualdi E, Facchinetti F, Galli L, Teixeira MR, Pilotti S, Sozzi G (2005) SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Cancer Res 65(10):4012–4019PubMedCrossRefGoogle Scholar
  32. 32.
    Sigauke E, Rakheja D, Maddox DL, Hladik CL, White CL III, Timmons CF, Raisanen J (2006) Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. Modern Pathol 19(5):717–725CrossRefGoogle Scholar
  33. 33.
    Burger PC, Yu IT, Tihan T, Friedman HS, Strother DR, Kepner JL, Duffner PK, Kun LE, Perlman EJ (1998) Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a pediatric oncology group study. Am J Surg Pathol 22:1083–1092PubMedCrossRefGoogle Scholar
  34. 34.
    Zimmerman MA, Goumnerova LC, Proctor M, Scott RM, Marcus K, Pomeroy SL, Turner CD, Chi SN, Chordas C, Kieran MW (2005) J Neurooncol 72(1):77–84Google Scholar

Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Elena L. Zarovnaya
    • 1
  • Henry F. Pallatroni
    • 2
  • Eugen B. Hug
    • 3
  • Perry A. Ball
    • 4
  • Laurence D. Cromwell
    • 5
  • J. Marc Pipas
    • 6
  • Camilo E. Fadul
    • 7
  • Louise P. Meyer
    • 7
  • Jonathan P. Park
    • 1
  • Jaclyn A. Biegel
    • 8
  • Arie Perry
    • 9
  • C. Harker Rhodes
    • 1
  1. 1.Department of PathologyDartmouth-Hitchcock Medical CenterLebanonUSA
  2. 2.Naval Medical Center San DiegoSan DiegoUSA
  3. 3.Center for Proton Radiation Therapy, Paul Scherrer InstituteUniversity of ZurichVilligenSwitzerland
  4. 4.Section of NeurosurgeryDartmouth-Hitchcock Medical CenterLebanonUSA
  5. 5.Department of RadiologyDartmouth-Hitchcock Medical CenterLebanonUSA
  6. 6.Section of Hematology and OncologyDartmouth-Hitchcock Medical CenterLebanonUSA
  7. 7.Section of NeurologyDartmouth-Hitchcock Medical Center LebanonUSA
  8. 8.Division of Human GeneticsThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  9. 9.Department of PathologyWashington University School of MedicineSt. LouisUSA

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