Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: Definition of an entity
Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: Definition of an entity
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DOI：
10.3171/jns.1996.85.1.0056
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发表时间：
1996-07-01
影响因子：
4.1
通讯作者：
Biegel, JA
中科院分区：
文献类型：
--
作者：
Rorke, LB;Packer, RJ;Biegel, JA
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.
