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Atypical teratoid rhabdoid tumour of the spine: report of a case and literature review

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Abstract

Atypical teratoid rhabdoid tumour (ATRT) is a rare and highly aggressive malignant neoplasm of the central nervous system (CNS), which occurs predominantly in children less than 2 years of age. There are less than 50 cases described in adult. We report a case of primary spinal ATRT in a 65-year-old male who presented to us with cauda equina syndrome. To the best of our knowledge, our patient is the (1) second oldest patient to be diagnosed with ATRT and only the third case of adult spinal ATRT report in the literature; (2) first reported case of CNS ATRT occurring in a patient with non-rhabdoid renal cancer; (3) first adult patient of ATRT to present with cauda equina syndrome.

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References

  1. Miah MS, White SJ, Oommen G, Birney E, Majumdar S (2010) Late simultaneous metastasis of renal cell carcinoma to the submandibular and thyroid glands seven years after radical nephrectomy. Int J Otolaryngol. pii:698014

  2. Sountoulides P, Metaxa L, Cindolo L (2011) Atypical presentations and rare metastatic sites of renal cell carcinoma: a review of case reports. J Med Case Rep 5:429

    Article  PubMed Central  PubMed  Google Scholar 

  3. Coccé MC, Lubieniecki F, Kordes U, Alderete D, Gallego MS (2011) A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature. J Neurooncol 104(1):375–380

    Article  PubMed  Google Scholar 

  4. Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilms tumors: results from the First National Wilms’ Tumor Study. Cancer 41(5):1937–1948

    Article  CAS  PubMed  Google Scholar 

  5. Haas JE, Palmer NF, Weinberg AG, Beckwith JB (1981) Ultrastructure of malignant rhabdoid tumor of the kidney. A distinctive renal tumor of children. Hum Pathol 12(7):646–657

    Article  CAS  PubMed  Google Scholar 

  6. Lefkowitz JB, Rorke LB, Packer RJ (1988) Atypical teratoid tumors of infancy: definition of an entity. Ann Neurol 22:448–489

    Google Scholar 

  7. 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(1):56–65

    Article  CAS  PubMed  Google Scholar 

  8. Oka H, Scheithauer BW (1999) Clinicopathological characteristics of atypical teratoid/rhabdoid tumor. Neurol Med Chir (Tokyo) 39(7):510–517

    Article  CAS  Google Scholar 

  9. Schneiderhan TM, Beseoglu K, Bergmann M et al (2011) Sellar atypical teratoid/rhabdoid tumours in adults. Neuropathol Appl Neurobiol 37(3):326–329

    Article  CAS  PubMed  Google Scholar 

  10. Lafay-Cousin L, Hawkins C, Carret AS et al (2012) Central nervous system atypical teratoid rhabdoid tumours: The Canadian Paediatric Brain Tumour Consortium experience. Eur J Cancer 48(3):353–359

    Article  CAS  PubMed  Google Scholar 

  11. Hilden JM, Meerbaum S, Burger P et al (2004) Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol 22(14):2877–2884

    Article  PubMed  Google Scholar 

  12. Samaras V, Stamatelli A, Samaras E et al (2009) Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient. Clin Neuropathol 28(1):1–10

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  13. Chi SN, Zimmerman MA, Yao X et al. [2009] Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. Jan 20; 27(3):385-9

  14. Dufour C, Beaugrand A, Le Deley MC et al (2012) Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system: a multicenter study. Cancer 118(15):3812–3821

    Article  PubMed  Google Scholar 

  15. Meyers SP, Khademian ZP, Biegel JA, Chuang SH, Korones DN, Zimmerman RA (2006) Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol 27(5):962–971

    CAS  PubMed  Google Scholar 

  16. Tekautz TM, Fuller CE, Blaney S et al (2005) A atypical teratoid/rhabdoid tumors (ATRT): improved survival in children 3 years of age and older with radiation therapy and high-dose alkylator-based chemotherapy. J Clin Oncol 23(7):1491–1499

    Article  CAS  PubMed  Google Scholar 

  17. Buscariollo DL, Park HS, Roberts KB, Yu JB (2012) Survival outcomes in atypical teratoid rhabdoid tumor for patients undergoing radiotherapy in a surveillance, epidemiology, and end results analysis. Cancer 118(17):4212–4219

    Article  PubMed  Google Scholar 

  18. Koral K, Gargan L, Bowers DC, Gimi B, Timmons CF, Weprin B, Rollins NK (2008) Imaging characteristics of atypical teratoid-rhabdoid tumor in children compared with medulloblastoma. AJR Am J Roentgenol 190(3):809–814

    Article  PubMed  Google Scholar 

  19. Warmuth-Metz M, Bison B, Dannemann-Stern E, Kortmann R, Rutkowski S, Pietsch T (2008) CT and MR imaging in atypical teratoid/rhabdoid tumors of the central nervous system. Neuroradiology 50(5):447–452

    Article  PubMed  Google Scholar 

  20. Bagley CA, Gokaslan ZL (2004) Cauda equina syndrome caused by primary and metastatic neoplasms. Neurosurg Focus 16(6):e3

    Article  PubMed  Google Scholar 

  21. 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):23–28

    Article  CAS  PubMed  Google Scholar 

  22. Mohapatra I, Santosh V, Chickabasaviah YT et al (2010) Histological and immunohistochemical characterization of AT/RT: a report of 15 cases from India. Neuropathology 30(3):251–259

    Article  PubMed  Google Scholar 

  23. Berger MS, Baumeister B, Geyer JR, Milstein J, Kanev PM, LeRoux PD (1991) The risks of metastases from shunting in children with primary central nervous system tumors. J Neurosurg 74(6):872–877

    Article  CAS  PubMed  Google Scholar 

  24. Biegel JA (2006) Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus 20(1):E11

    Article  PubMed  Google Scholar 

  25. Biegel JA, Zhou JY, 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):74–79

    CAS  PubMed  Google Scholar 

  26. Tsai CY, Wong TT, Lee YH et al (2012) Intact INI1 gene region with paradoxical loss of protein expression in AT/RT: implications for a possible novel mechanism associated with absence of INI1 protein immunoreactivity. Am J Surg Pathol 36(1):128–133

    Article  PubMed  Google Scholar 

  27. Mularz K, Harazin-Lechowska A, Ambicka A et al (2012) Specificity and sensitivity of INI-1 labeling in epithelioid sarcoma. Loss of INI1 expression as a frequent immunohistochemical event in synovial sarcoma. Pol J Pathol 63(3):179–183

    Article  PubMed  Google Scholar 

  28. Elwood H, Chaux A, Schultz L et al (2011) Immunohistochemical analysis of SMARCB1/INI-1 expression in collecting duct carcinoma. Urology. 78(2):474.e1–e5

  29. Las Heras F, Pritzker KP (2010) Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica. Pathol Res Pract 206(11):788–791

    Article  PubMed  Google Scholar 

  30. Zarovnaya EL, Pallatroni HF, Hug EB et al (2007) Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. J Neurooncol 84(1):49–55

    Article  PubMed  Google Scholar 

  31. Lee IH, Yoo SY, Kim JH et al (2009) Atypical teratoid/rhabdoid tumors of the central nervous system: imaging and clinical findings in 16 children. Clin Radiol 64(3):256–264

    Article  CAS  PubMed  Google Scholar 

  32. Sévenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O (1999) Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 65(5):1342–1348

    Article  PubMed Central  PubMed  Google Scholar 

  33. Weeks DA, Beckwith JB, Mierau GW, Luckey DW (1989) Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms’ Tumor Study Pathology Center. Am J Surg Pathol 13(6):439–458

    Article  CAS  PubMed  Google Scholar 

  34. Litman DA, Bhuta S, Barsky SH (1993) Synchronous occurrence of malignant rhabdoid tumor two decades after Wilms’ tumor irradiation. Am J Surg Pathol 17(7):729–737

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

We are grateful to Mr Darrach Crimmins, Ms Patricia Harnden and Dr Olaf Ansorge for their help in the management of this challenging case.

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Authors and Affiliations

  1. Department of Neurosurgery, Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds, LS1 3EX, UK

    Priyank Sinha, Maleeha Ahmad, Atul Tyagi & Paul Chumas

  2. Department of Medicine, Leeds Teaching Hospitals NHS Trust, Leeds, UK

    Ann Varghese & Tejal Parekh

  3. Department of Neuropathology, Leeds Teaching Hospitals NHS Trust, Leeds, UK

    Azzam Ismail & Aruna Chakrabarty

Authors
  1. Priyank Sinha
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  2. Maleeha Ahmad
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Correspondence to Priyank Sinha.

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Sinha, P., Ahmad, M., Varghese, A. et al. Atypical teratoid rhabdoid tumour of the spine: report of a case and literature review. Eur Spine J 24 (Suppl 4), 472–484 (2015). https://doi.org/10.1007/s00586-014-3445-1

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  • DOI: https://doi.org/10.1007/s00586-014-3445-1

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