Atypical Teratoid Rhabdoid Tumor

  • Adekunle M. Adesina
  • J. Hunter
  • L. Rorke-Adams


Atypical teratoid/rhabdoid tumors are malignant high grade embryonal (WHO Grade IV) tumors seen in children often below the age of 3 years and rarely above the age of 6 years. Account for 10% of tumors in infants with slight male predominance, M:F ratio = 2:1 Characteristically poorly differentiated, contain rhabdoid cells with divergent differentiation to form epithelial, mesenchymal, neuronal, and glial components and may be associated with a subpopulation of primitive neuroectodermal cells.


Atypical teratoid rhabdoid tumor PNET Embryonal tumor Rhabdoid predisposition syndrome 

Suggested Reading

  1. 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
  2. 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. Am J Surg Pathol 22:1083–1092PubMedCrossRefGoogle Scholar
  3. Manhoff DT, Rorke LB, Yachnis AT (1995) Primary intracranial atypical teratoid/rhabdoid tumor in a child with Canavan disease. Pediatr Neurosurg 22:214–222PubMedCrossRefGoogle Scholar
  4. Judkins AR, Mauger J, Rorke LB, Biegel JA (2004) Immunohistochemical analysis of hSNF5/INI 1 in pediatric CNS neoplasms. Am J Surg Pathol 28:644–650PubMedGoogle Scholar
  5. Meyers SP, Khademian ZP, Biegel JA et al (2006) Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol 27:962–971PubMedGoogle Scholar
  6. Giangaspero F, Rigobello L, Badiali M, Loda M, Andrieini L, Basso G, Zorzi F, Montaldi A (1992) Large cell medulloblastomas. A distinct variant with highly aggressive behavior. Am J Surg Pathol 16:687–693PubMedCrossRefGoogle Scholar
  7. Judkins AR, Burger PC, Hamilton RL, Kleinschmidt-DeMasters B, Perry A, Pomeroy SL, Rosenblum MK, Yachnis A, Zhou H, Rorke LB, Biegel JA (2005) INI 1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma. J Neuropathol Exp Neurol 64:391–397PubMedGoogle Scholar
  8. 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):1342–8PubMedCrossRefGoogle Scholar
  9. Ammerlaan AC, Ararou A, Houben MP, Baas F, Tijssen CC, Teepen JL, Wesseling P, Hulsebos TJ (2008) Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome. Br J Cancer 98(2):474–9PubMedCrossRefGoogle Scholar
  10. Jackson EM, Shaikh TH, Gururangan S, Jones MC, Malkin D, Nikkel SM, Zuppan CW, Wainwright LM, Zhang F, Biegel JA (2007) High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet 122(2):117–27PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Adekunle M. Adesina
    • 1
  • J. Hunter
    • 2
  • L. Rorke-Adams
    • 3
  1. 1.Section of Neuropathology and Molecular Neuropathology Laboratory, Department of PathologyTexas Children’s Hospital, Baylor College of MedicineHoustonUSA
  2. 2.Department of RadiologyTexas Children’s Hospital, Baylor College of MedicineHoustonUSA
  3. 3.Department of PathologyThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA

Personalised recommendations