Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity

J Neurosurg. 1996 Jul;85(1):56-65. doi: 10.3171/jns.1996.85.1.0056.


Clinical and pathological features of 52 infants and children with atypical teratoid/rhabdoid tumor (ATT/RhT) of the central nervous system are defined. This tumor is typically misdiagnosed as a primitive neuroectodermal tumor (PNET) primarily because 70% of ATT/RhTs contain fields indistinguishable from classic PNETs. Separation of these two tumor types is crucial because the prognosis for ATT/RhT is given even when treatment includes surgery with or without radio and/or chemotherapy. These tumors are most common in infants less than 2 years of age. The cases described in this study arose in intracranially in all but one instance, although one-third had already spread throughout the subarachnoid space at presentation. Clinical signs and symptoms and radiological features do not distinguish ATT/RhTs from PNETs. The tumors are composed entirely (13%) or partly (77%) or rhabdoid cells. Seventy percent contains fields of typical PNET alone or in combinations with mesenchymal and/r epithelial elements. The immunohistochemical profile is unique: epithelial membrane antigen, vimentin, and smooth-muscle actin are positive in the majority of tumors and markers for germ-cell tumors are consistently negative. Abnormalities of chromosome 22 distinguish ATT/RhTs from PNETs, which typically display an i(17q) abnormality.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Antibodies / immunology
  • Central Nervous System Neoplasms / diagnosis*
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Humans
  • Immunohistochemistry
  • Infant
  • Male
  • Microscopy, Electron
  • Prognosis
  • Rhabdoid Tumor / diagnosis
  • Rhabdoid Tumor / ultrastructure*
  • Teratoma / diagnosis
  • Teratoma / ultrastructure*


  • Antibodies