Atypical teratoid rhabdoid tumor historical perspective

Historical Perspective

AT/RT of the central nervous system (CNS) was first described in 1987 Early subsequent reports called this kind of CNS tumor either atypical teratoid rhaboid tumor or malignant rhabdoid tumor (MRT) of the CNS. Between 1978 and 1987, AT/RT likely was misdiagnosed as rhabdoid tumor. Before 1978, when rhabdoid tumor was described, AT/RT likely was misdiagnosed as medulloblastoma. However, both AT/RT and non-CNS MRT have a worse prognosis and are resistant to the standard treatment protocols for medulloblastoma.

By 1995, AT/RT had become regarded as a newly defined aggressive, biologically unique class of primarily brain and spinal tumors, primarily affecting infants and young children. In January 2001, the U.S. National Cancer Institute and Office of Rare Diseases hosted a Workshop on Childhood Atypical Teratoid/Rhabdoid Tumors of the Central Nervous System. Twenty-two participants from 14 different institutions came together to discuss the biology, treatments and new strategies for these tumors. The consensus paper on the biology of the tumor was published in Clinical Research. Given the rare nature of this tumor, and its recent definition, there have been less than fifty (50) papers in the literature on AT/RT since it was initially reported.

The recent recognition that CNS atypical teratoid/rhabdoid tumors (AT/RT) have deletions of the INI1 gene indicates that rhabdoid tumors of the kidney and brain are identical or closely related entities. This observation is not surprising because rhabdoid tumors at both locations possess similar histologic, clinical, and demographic features.