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

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✓ 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 grim 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 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%) of rhabdoid cells. Seventy percent contain fields of typical PNET alone or in combination with mesenchymal and/or 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.

Article Information

Contributor Notes

Address reprint requests to: Lucy Balian Rorke, M.D., Department of Pathological Anatomy, The Children's Hospital of Philadelphia, 324 South 34th Street, Philadelphia, Pennsylvania 19104–4399.
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