Abstract
We report an atypical teratoid/rhabdoid tumor arising in a ganglioglioma from an 11-year-old male who had been treated over a nine-year period. A combined histologic, immunohistochemical, and molecular genetic analysis confirmed this diagnosis. Molecular genetic studies demonstrated a mutation in exon 9 of the INI1 gene in the tumor, which was not present in the patient's blood. This report is the first to describe progression of a ganglioglioma to atypical teratoid/rhabdoid tumor.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Brain Neoplasms / genetics
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Brain Neoplasms / pathology*
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Child
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Chromosomal Proteins, Non-Histone
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Chromosomes, Human, Pair 22 / genetics
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DNA Mutational Analysis
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DNA-Binding Proteins / genetics
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Fatal Outcome
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Female
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Frameshift Mutation
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Ganglioglioma / genetics
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Ganglioglioma / pathology*
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Humans
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Male
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Neoplasms, Multiple Primary / genetics
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Neoplasms, Multiple Primary / pathology*
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Rhabdoid Tumor / genetics
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Rhabdoid Tumor / pathology*
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SMARCB1 Protein
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Teratoma / genetics
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Teratoma / pathology*
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Transcription Factors / genetics
Substances
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Chromosomal Proteins, Non-Histone
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DNA-Binding Proteins
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SMARCB1 Protein
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SMARCB1 protein, human
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Transcription Factors