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Atypical Teratoid Rhabdoid Tumors

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Pediatric Neuro-oncology

Abstract

Atypical teratoid rhabdoid tumor of the brain is a rare embryonal tumor of infancy which has become more widely recognized due to specific immunostaining now more routinely available. These tumors still carry a poor prognosis and no standard therapy is currently available. However, the recent development of aggressive multimodality strategies seems to be associated with improved survival rates. In this chapter, we provide a review of our current knowledge on the demographics and epidemiology, pathology, and molecular characteristics. We review each individual therapeutic modality used (surgery, conventional chemotherapy, high-dose chemotherapy with stem cell rescue, intrathecal chemotherapy, and radiation) and the contribution of each to outcome when available. We provide an overview of the most recent therapeutic trials published and discuss the future options in development.

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References

  1. Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg. 1996;85(1):56–65.

    Article  CAS  PubMed  Google Scholar 

  2. Packer RJ, et al. Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop. J Pediatr Hematol Oncol. 2002;24(5):337–42.

    Article  PubMed  Google Scholar 

  3. Squire SE, Chan MD, Marcus KJ. Atypical teratoid/rhabdoid tumor: the controversy behind radiation therapy. J Neurooncol. 2007;81(1):97–111.

    Article  PubMed  Google Scholar 

  4. Fleming AJ, et al. Atypical teratoid rhabdoid tumors (ATRTs): the British Columbia’s Children’s Hospital’s experience, 1986–2006. Brain Pathol. 2012;22(5): 625–35.

    Article  CAS  PubMed  Google Scholar 

  5. Annual incidence of rhabdoid tumors among children <15, 2000–2008. Volume SEER 17. Bethesda: Surveillance, Epidemiology, and End Results (SEER) Program, SEER Stat version 7.06;2011.

    Google Scholar 

  6. Woehrer A, et al. Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996–2006. Cancer. 2010;116(24):5725–32.

    Article  PubMed  Google Scholar 

  7. Tekautz TM, et al. 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. 2005; 23(7):1491–9.

    Article  CAS  PubMed  Google Scholar 

  8. Lafay-Cousin L, et al. Central nervous system atypical teratoid rhabdoid tumours: the Canadian Paediatric Brain Tumour Consortium experience. Eur J Cancer. 2012;48(3):353–9.

    Article  CAS  PubMed  Google Scholar 

  9. Hilden JM, et al. Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol. 2004;22(14): 2877–84.

    Article  PubMed  Google Scholar 

  10. Heck JE, et al. Epidemiology of rhabdoid tumors of early childhood. Pediatr Blood Cancer. 2013; 60(1):77–81.

    Article  PubMed Central  PubMed  Google Scholar 

  11. Chi SN, et al. Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. 2009;27(3):385–9.

    Article  PubMed Central  PubMed  Google Scholar 

  12. Pai Panandiker AS, et al. Sequencing of local therapy affects the pattern of treatment failure and survival in children with atypical teratoid rhabdoid tumors of the central nervous system. Int J Radiat Oncol Biol Phys. 2012;82(5):1756–63.

    Article  PubMed Central  PubMed  Google Scholar 

  13. Dufour C, et al. Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system: a multicenter study. Cancer. 2012;118(15):3812–21.

    Article  PubMed  Google Scholar 

  14. Athale UH, et al. Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. J Pediatr Hematol Oncol. 2009;31(9):651–63.

    Article  PubMed  Google Scholar 

  15. Bruggers CS, et al. Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. Pediatr Blood Cancer. 2011;56(7):1026–31.

    Article  PubMed Central  PubMed  Google Scholar 

  16. Reddy AT. Atypical teratoid/rhabdoid tumors of the central nervous system. J Neurooncol. 2005;75(3): 309–13.

    Article  CAS  PubMed  Google Scholar 

  17. Koral K, et al. Imaging characteristics of atypical teratoid-rhabdoid tumor in children compared with medulloblastoma. AJR Am J Roentgenol. 2008; 190(3):809–14.

    Article  PubMed  Google Scholar 

  18. Au Yong KJ, et al. How specific is the MRI appearance of supratentorial atypical teratoid rhabdoid tumors? Pediatr Radiol. 2013;43(3):347–54.

    Article  PubMed  Google Scholar 

  19. Judkins AR, et al. Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol. 2004;28(5):644–50.

    Article  PubMed  Google Scholar 

  20. Hasselblatt M, et al. Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis. J Neuropathol Exp Neurol. 2009;68(12):1249–55.

    Article  PubMed  Google Scholar 

  21. Biegel JA, et al. Monosomy 22 in rhabdoid or atypical tumors of the brain. J Neurosurg. 1990;73(5):710–4.

    Article  CAS  PubMed  Google Scholar 

  22. Roberts CW, Orkin SH. The SWI/SNF complex–chromatin and cancer. Nat Rev Cancer. 2004;4(2): 133–42.

    Article  CAS  PubMed  Google Scholar 

  23. Lee RS, et al. A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest. 2012;122(8):2983–8.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  24. Fujisawa H, et al. Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation. J Neurooncol. 2005;73(2):117–24.

    Article  CAS  PubMed  Google Scholar 

  25. Wilson BG, et al. Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation. Cancer Cell. 2010;18(4):316–28.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  26. Klochendler-Yeivin A, Picarsky E, Yaniv M. Increased DNA damage sensitivity and apoptosis in cells lacking the Snf5/Ini1 subunit of the SWI/SNF chromatin remodeling complex. Mol Cell Biol. 2006;26(7):2661–74.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  27. Hasselblatt M, et al. Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol. 2011;35(6):933–5.

    Article  PubMed  Google Scholar 

  28. Kieran MW, et al. Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors. Pediatr Blood Cancer. 2012;59(7):1155–7.

    Article  PubMed Central  PubMed  Google Scholar 

  29. Birks DK, et al. High expression of BMP pathway genes distinguishes a subset of atypical teratoid/rhabdoid tumors associated with shorter survival. Neuro Oncol. 2011;13(12):1296–307.

    Article  PubMed Central  PubMed  Google Scholar 

  30. Bourdeaut F, et al. Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res. 2011;17(1):31–8.

    Article  CAS  PubMed  Google Scholar 

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

    Article  PubMed  Google Scholar 

  32. Schneppenheim R, et al. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010;86(2):279–84.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  33. Gardner SL, et al. Intensive induction chemotherapy followed by high dose chemotherapy with autologous hematopoietic progenitor cell rescue in young children newly diagnosed with central nervous system atypical teratoid rhabdoid tumors. Pediatr Blood Cancer. 2008;51(2):235–40.

    Article  PubMed  Google Scholar 

  34. Geyer JR, et al. Multiagent chemotherapy and deferred radiotherapy in infants with malignant brain tumors: a report from the Children’s Cancer Group. J Clin Oncol. 2005;23(30):7621–31.

    Article  PubMed  Google Scholar 

  35. Zimmerman MA, et al. Continuous remission of newly diagnosed and relapsed central nervous system atypical teratoid/rhabdoid tumor. J Neurooncol. 2005; 72(1):77–84.

    Article  PubMed  Google Scholar 

  36. Finkelstein-Shechter T, et al. Atypical teratoid or rhabdoid tumors: improved outcome with high-dose chemotherapy. J Pediatr Hematol Oncol. 2010;32(5): e182–6.

    Article  PubMed  Google Scholar 

  37. Nicolaides T, et al. High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol. 2010;98(1):117–23.

    Article  PubMed Central  PubMed  Google Scholar 

  38. Ginn KF, Gajjar A. Atypical teratoid rhabdoid tumor: current therapy and future directions. Front Oncol. 2012;2:114.

    Article  PubMed Central  PubMed  Google Scholar 

  39. von Hoff K, et al. Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database. Pediatr Blood Cancer. 2011;57(6):978–85.

    Article  Google Scholar 

  40. Chen YW, et al. Impact of radiotherapy for pediatric CNS atypical teratoid/rhabdoid tumor (single institute experience). Int J Radiat Oncol Biol Phys. 2006; 64(4):1038–43.

    Article  PubMed  Google Scholar 

  41. Kordes U, et al. Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Genes Chromosomes Cancer. 2010;49(2):176–81.

    CAS  PubMed  Google Scholar 

  42. Lafay-Cousin L, Hawkins C, Fryer C, Bouffet E. Some infants with CNS ATRT can be cured without radiation. Neuro Oncol. 2012;14 Suppl 1:2.

    Google Scholar 

  43. Frühwald MC, Graf N. European Rhabdoid Registry. EU-RHAB. V2010. 29/07/2010; Available from: http:// www.kinderkrebsstiftung.de/fileadmin/kinderkrebsinfo. de/EURHAB100729MS_ger.pdf. Accessed on 29 August 2013.

  44. Clinical Trials (PDQ®). Combination Chemotherapy, Radiation Therapy, and an Autologous Peripheral Blood Stem Cell Transplant in Treating Young Patients With Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System. National Cancer Institute. June 10, 2013. Available from: http://www.cancer.gov/clinicaltrials/search/view?cdrid=592812&version=HealthProfessional. Accessed on 29 August 2013.

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Author information

Authors and Affiliations

  1. Department of Pediatrics, Division of Oncology, Alberta Children’s Hospital, Calgary, AB, Canada

    Lucie Lafay-Cousin M.D., M.Sc.

  2. Departments of Oncology and Pediatrics, Section of Oncology and Blood and Marrow Transplant, Cumming School of Medicine and Alberta Children’s Hospital, Calgary, AB, Canada

    Douglas R. Strother M.D.

  3. Department of Pathology & Laboratory Medicine, University of Calgary, Calgary, AB, Canada

    Jennifer A. Chan M.D.

  4. Department of Lab Medicine and Pathobiology, Labatt’s Brain Tumour Centre, SickKids, University of Toronto, Toronto, ON, Canada

    Jonathon Torchia M.Sc.

  5. Department of Cell Biology, The Hospital for Sick Children, Toronto, ON, Canada

    Annie Huang M.D., Ph.D.

Authors
  1. Lucie Lafay-Cousin M.D., M.Sc.
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  2. Douglas R. Strother M.D.
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  3. Jennifer A. Chan M.D.
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  4. Jonathon Torchia M.Sc.
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  5. Annie Huang M.D., Ph.D.
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Corresponding author

Correspondence to Lucie Lafay-Cousin M.D., M.Sc. .

Editor information

Editors and Affiliations

  1. Division of Hematology/Oncology, Department of Pediatrics, Associate Professor of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada

    Katrin Scheinemann

  2. Department of Haematology/Oncology, Garron Family Chair in Childhood Cancer Research, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

    Eric Bouffet

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Lafay-Cousin, L., Strother, D.R., Chan, J.A., Torchia, J., Huang, A. (2015). Atypical Teratoid Rhabdoid Tumors. In: Scheinemann, K., Bouffet, E. (eds) Pediatric Neuro-oncology. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-1541-5_15

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  • DOI: https://doi.org/10.1007/978-1-4939-1541-5_15

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-1540-8

  • Online ISBN: 978-1-4939-1541-5

  • eBook Packages: MedicineMedicine (R0)

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