Abstract
Atypical teratoid/rhabdoid tumors (AT/RTs) are aggressive malignant tumors found in infants and young children. The tumor is characterized by the presence of a rhabdoid cell component in all cases, but the histological origin is still unclear. Recently, germline mutation of the hSNF5/INI1 gene has been reported in association with AT/RTs. The authors report a rare case of an intraocular AT/RT followed by a fourth ventricular tumor. The results of immunohistochemical studies of the surgical specimens revealed the presence of an AT/RT and from this finding the neural origin was inferred. A novel missense mutation of the hSNF5/INI1 gene was demonstrated by DNA analysis. High-dose chemotherapy with stem cell rescue was effective in treating this patient. The immunohistochemical relationship between rhabdoid cells and the neurogenic zone, which has not been described in AT/RTs, is of great interest in view of the nature of rhabdoid cells.
MeSH terms
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Biomarkers, Tumor / analysis
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Biomarkers, Tumor / genetics
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Bone Marrow Purging
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Cerebral Ventricle Neoplasms / drug therapy
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Cerebral Ventricle Neoplasms / genetics
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Cerebral Ventricle Neoplasms / pathology
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Cerebral Ventricle Neoplasms / surgery*
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Chemotherapy, Adjuvant
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Chromosomal Proteins, Non-Histone
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Codon / genetics
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Combined Modality Therapy
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DNA-Binding Proteins / genetics
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Disease Progression
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Eye / pathology
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Eye Enucleation
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Eye Neoplasms / drug therapy
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Eye Neoplasms / genetics
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Eye Neoplasms / pathology
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Eye Neoplasms / surgery*
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Follow-Up Studies
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Fourth Ventricle / pathology
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Fourth Ventricle / surgery*
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Germ-Line Mutation
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Humans
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Infant, Newborn
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Intermediate Filament Proteins / genetics
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Magnetic Resonance Imaging
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Male
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Microscopy, Acoustic
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Mutation, Missense / genetics
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Neoplasms, Multiple Primary / drug therapy
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Neoplasms, Multiple Primary / genetics
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Neoplasms, Multiple Primary / pathology
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Neoplasms, Multiple Primary / surgery*
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Nerve Tissue Proteins / genetics
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Nestin
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RNA-Binding Proteins / genetics
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Rhabdoid Tumor / drug therapy
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Rhabdoid Tumor / genetics
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Rhabdoid Tumor / pathology
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Rhabdoid Tumor / surgery*
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SMARCB1 Protein
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Stem Cell Transplantation
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Teratoma / drug therapy
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Teratoma / genetics
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Teratoma / pathology
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Teratoma / surgery*
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Transcription Factors
Substances
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Biomarkers, Tumor
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Chromosomal Proteins, Non-Histone
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Codon
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DNA-Binding Proteins
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Intermediate Filament Proteins
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MSI1 protein, human
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NES protein, human
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Nerve Tissue Proteins
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Nestin
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RNA-Binding Proteins
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SMARCB1 Protein
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SMARCB1 protein, human
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Transcription Factors