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Atypical Teratoid/Rhabdoid Tumors

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Pediatric Cancer, Volume 3

Part of the book series: Pediatric Cancer ((PECA,volume 3))

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Abstract

Atypical teratoid/rhabdoid tumor is a rare aggressive malignant central nervous system tumor that most often occurs in young children. Though these tumors may have overlapping histological features with other Central Nervous System (CNS) tumors, one feature unique to most atypical teratoid/rhabdoid tumors is a genetic abnormality in the INI-1 gene on chromosome 22q11. Loss of the INI-1 protein staining is important for distinguishing atypical teratoid/rhabdoid tumors from other tumors. Historically, outcomes for patients with atypical teratoid/rhabdoid tumors have been poor despite surgery and chemotherapy. Promising new strategies, including intensive multimodal therapy and high dose chemotherapy with autologous stem cell transplantation, have significantly improved outcomes. In this chapter, we present a comprehensive overview of atypical teratoid/rhabdoid tumors. We focus upon their epidemio­logy, molecular genetics, pathologic diagnosis and clinical presentation. In addition, we discuss treatment approaches, prognostic factors, outcomes and future research directions.

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References

  • Athale UH, Duckworth J, Odame I, Barr R (2009) Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. J Pediatr Hematol Oncol 31:651–663

    Article  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  • 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 59:74–79

    CAS  PubMed  Google Scholar 

  • Biegel JA, Kalpana G, Knudsen ES, Packer RJ, Roberts CW, Thiele CJ, Weissman B, Smith M (2002a) The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. Cancer Res 62:323–328

    CAS  PubMed  Google Scholar 

  • Biegel JA, Tan L, Zhang F, Wainwright L, Russo P, Rorke LB (2002b) Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res 8:3461–3467

    CAS  PubMed  Google Scholar 

  • Biggs PJ, Garen PD, Powers JM, Garvin AJ (1987) Malignant rhabdoid tumor of the central nervous system. Hum Pathol 18:332–337

    Article  CAS  PubMed  Google Scholar 

  • Bing F, Nugues F, Grand S, Bessou P, Salon C (2009) Primary intracranial extra-axial and supratentorial atypical rhabdoid tumor. Pediatr Neurol 41:453–456

    Article  PubMed  Google Scholar 

  • Biswas A, Goyal S, Puri T, Das P, Sarkar C, Julka PK, Bakhshi S, Rath GK (2009) Atypical teratoid rhabdoid tumor of the brain: case series and review of literature. Childs Nerv Syst 25:1495–1500

    Article  PubMed  Google Scholar 

  • Chen ML, McComb JG, Krieger MD (2005) Atypical teratoid/rhabdoid tumors of the central nervous system: management and outcomes. Neurosurg Focus 18:E8

    Article  PubMed  Google Scholar 

  • Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel JA, Rorke-Adams LB, Fisher MJ, Janss A, Mazewski C, Goldman S, Manley PE, Bowers DC, Bendel A, Rubin J, Turner CD, Marcus KJ, Goumnerova L, Ullrich NJ, Kieran MW (2009) Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol 27:385–389

    Article  PubMed  Google Scholar 

  • Finkelstein-Shechter T, Gassas A, Mabbott D, Huang A, Bartels U, Tabori U, Laura J, Hawkins C, Taylor M, Bouffet E (2010) Atypical teratoid or rhabdoid tumors: improved outcome with high-dose chemotherapy. J Pediatr Hematol Oncol 32:e182–e186

    Article  PubMed  Google Scholar 

  • Fouladi M, Blaney SM, Poussaint TY, Freeman BB 3rd, McLendon R, Fuller C, Adesina AM, Hancock ML, Danks MK, Stewart C, Boyett JM, Gajjar A (2006) Phase II study of oxaliplatin in children with recurrent or refractory medulloblastoma, supratentorial primitive neuroectodermal tumors, and atypical teratoid rhabdoid tumors: a pediatric brain tumor consortium study. Cancer 107:2291–2297

    Article  CAS  PubMed  Google Scholar 

  • Gadd S, Sredni ST, Huang CC, Perlman EJ (2010) Rhabdoid tumor: gene expression clues to pathogenesis and potential therapeutic targets. Lab Invest 90:724–738

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Gardner SL, Asgharzadeh S, Green A, Horn B, McCowage G, Finlay J (2008) 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 51:235–240

    Article  PubMed  Google Scholar 

  • Garre ML, Tekautz T (2010) Role of high-dose chemotherapy (HDCT) in treatment of atypical teratoid/rhabdoid tumors (AT/RTs). Pediatr Blood Cancer 54:647–648

    Article  PubMed  Google Scholar 

  • Janson K, Nedzi LA, David O, Schorin M, Walsh JW, Bhattacharjee M, Pridjian G, Tan L, Judkins AR, Biegel JA (2006) Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer 47:279–284

    Article  PubMed  Google Scholar 

  • Judkins AR, Mauger J, Ht A, Rorke LB, Biegel JA (2004) Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 28:644–650

    Article  PubMed  Google Scholar 

  • Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (1994) Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5. Science 266:2002–2006

    Article  CAS  PubMed  Google Scholar 

  • Kao CL, Huang PI, Tsai PH, Tsai ML, Lo JF, Lee YY, Chen YJ, Chen YW, Chiou SH (2009) Resveratrol-induced apoptosis and increased radiosensitivity in CD133-positive cells derived from atypical teratoid/rhabdoid tumor. Int J Radiat Oncol Biol Phys 74:219–228

    Article  CAS  PubMed  Google Scholar 

  • Kleihues P, Louis DN, Scheithauer BW, Rorke LB, Reifenberger G, Burger PC, Cavenee WK (2002) The WHO classification of tumors of the nervous system. J Neuropathol Exp Neurol 61:215–225; discussion 226-219

    PubMed  Google Scholar 

  • Ma HI, Kao CL, Lee YY, Chiou GY, Tai LK, Lu KH, Huang CS, Chen YW, Chiou SH, Cheng IC, Wong TT (2010) Differential expression profiling between atypical teratoid/rhabdoid and medulloblastoma tumor in vitro and in vivo using microarray analysis. Childs Nerv Syst 26:293–303

    Article  PubMed  Google Scholar 

  • MacDonald TJ (2008) Aggressive infantile embryonal tumors. J Child Neurol 23:1195–1204

    Article  PubMed Central  PubMed  Google Scholar 

  • Morgenstern DA, Gibson S, Brown T, Sebire NJ, Anderson J (2010) Clinical and pathological features of paediatric malignant rhabdoid tumours. Pediatr Blood Cancer 54:29–34

    Article  PubMed  Google Scholar 

  • Nicolaides T, Tihan T, Horn B, Biegel J, Prados M, Banerjee A (2010) High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol 98:117–123

    Article  PubMed Central  PubMed  Google Scholar 

  • Parmar H, Hawkins C, Bouffet E, Rutka J, Shroff M (2006) Imaging findings in primary intracranial atypical teratoid/rhabdoid tumors. Pediatr Radiol 36:126–132

    Article  PubMed  Google Scholar 

  • Parwani AV, Stelow EB, Pambuccian SE, Burger PC, Ali SZ (2005) Atypical teratoid/rhabdoid tumor of the brain: cytopathologic characteristics and differential diagnosis. Cancer 105:65–70

    Article  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  • Sredni ST, Bonaldo Mde F, Costa FF, Huang CC, Hamm CA, Rajaram V, Tomita T, Goldman S, Bischof JM, Soares MB (2010) Upregulation of mir-221 and mir-222 in atypical teratoid/rhabdoid tumors: potential therapeutic targets. Childs Nerv Syst 26:279–283

    Article  PubMed  Google Scholar 

  • Tekautz TM, Fuller CE, Blaney S, Fouladi M, Broniscer A, Merchant TE, Krasin M, Dalton J, Hale G, Kun LE, Wallace D, Gilbertson RJ, Gajjar A (2005) 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 23:1491–1499

    Article  CAS  PubMed  Google Scholar 

  • Utsuki S, Oka H, Tanaka S, Kondo K, Tanizaki Y, Fujii K (2003) Importance of re-examination for medulloblastoma and atypical teratoid/rhabdoid tumor. Acta Neurochir (Wien) 145:663–666; discussion 666

    Article  CAS  Google Scholar 

  • 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 394:203–206

    Article  CAS  PubMed  Google Scholar 

  • 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 50:447–452

    Article  PubMed  Google Scholar 

  • Zhang F, Tan L, Wainwright LM, Bartolomei MS, Biegel JA (2002) No evidence for hypermethylation of the hSNF5/INI1 promoter in pediatric rhabdoid tumors. Genes Chromosomes Cancer 34:398–405

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Neurosurgery Research Program, Children’s Hospital of Chicago Research Center and Northwestern University Feinberg School of Medicine, 225 East Chicago Avenue, 28, IL, 60611, Chicago, USA

    Simone Treiger Sredni

  2. Hematology, Oncology and Stem Cell Transplantation, Ann & Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine, 225 East Chicago Avenue, 30, IL, 60611, Chicago, USA

    Rishi R. Lulla

Authors
  1. Simone Treiger Sredni
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  2. Rishi R. Lulla
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Correspondence to Simone Treiger Sredni .

Editor information

Editors and Affiliations

  1. Biology, Kean University, Union, New Jersey, USA

    M.A. Hayat

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© 2012 Springer Science+Business Media Dordrecht

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Sredni, S.T., Lulla, R.R. (2012). Atypical Teratoid/Rhabdoid Tumors. In: Hayat, M. (eds) Pediatric Cancer, Volume 3. Pediatric Cancer, vol 3. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-4528-5_2

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