title: Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study.
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.
authors.affiliation: Department of Neurology, New York University School of Medicine, New York, NY 10016, USA.
authors.forename: Jeffrey C
authors.initials: JC
authors.lastname: Allen
authors.forename: Alexander R
authors.initials: AR
authors.lastname: Judkins
authors.forename: Marc K
authors.initials: MK
authors.lastname: Rosenblum
authors.forename: Jaclyn A
authors.initials: JA
authors.lastname: Biegel
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001932:Brain Neoplasms / Q000235:genetics / Q000473:pathology*; D002648:Child; D002868:Chromosomal Proteins, Non-Histone; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation; D018303:Ganglioglioma / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology*; D018335:Rhabdoid Tumor / Q000235:genetics / Q000473:pathology*; D000071796:SMARCB1 Protein; D013724:Teratoma / Q000235:genetics / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors