Abstract
Childhood atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system (CNS) is a recently described entity. Diagnosis is based on distinctive light microscopy and immunohistochemical findings, coupled with molecular genetic analysis. Most AT/RTs demonstrate monosomy 22 or deletions of chromosome band 22q11 with alterations of the hSNF5/INI1 gene. The tumor's incidence is still undefined, but it may comprise as high as 1 in 4 primitive CNS tumors in infants. Treatment is far from optimal, but there are occasional long-term survivors, especially among older children. Therapeutic approached have included surgery, chemotherapy, and radiotherapy. Prospective clinical trials are needed for children with AT/RTs.
Publication types
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Congress
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Antineoplastic Agents / therapeutic use
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Brain Neoplasms / genetics
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Brain Neoplasms / pathology*
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Brain Neoplasms / therapy
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Child, Preschool
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Chromosomal Proteins, Non-Histone
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Chromosome Deletion
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Chromosomes, Human, Pair 22 / genetics
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DNA-Binding Proteins / genetics
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General Surgery
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Humans
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Infant
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Monosomy
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Neoplasm Proteins / genetics
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Radiotherapy
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Rhabdoid Tumor / genetics
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Rhabdoid Tumor / pathology*
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Rhabdoid Tumor / therapy
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SMARCB1 Protein
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Teratoma / genetics
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Teratoma / pathology*
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Teratoma / therapy
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Transcription Factors
Substances
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Antineoplastic Agents
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Chromosomal Proteins, Non-Histone
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DNA-Binding Proteins
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Neoplasm Proteins
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SMARCB1 Protein
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SMARCB1 protein, human
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Transcription Factors