title: Rhabdoid glioblastoma in a child: case report and literature review.
abstract: Rhabdoid glioblastoma is a rare type of glioblastoma characterized by cells resembling rhabdomyoblasts. Several reports have identified its aggressive clinical course and the pathological differences from other primary brain tumors. We report a case of rhabdoid glioblastoma in a 12-year-old boy who presented with headache and harbored a 70-mm solid tumor in the left temporal lobe. The tumor was surgically excised, but early tumor recurrence and leptomeningeal spread developed, and the patient died of the disease 4.9 months after surgery. Histologically, the tumor contained two distinct patterns of glioblastoma and rhabdoid cells with necrosis and hemorrhage. Immunohistochemical analysis revealed that both cells were positive for glial fibrillary acid protein, vimentin, and INI1, which is consistent with the reported diagnosis of rhabdoid glioblastoma. Genetic studies confirmed no loss of the INI1 gene and identified hemizygous deletion of the CDKN2A gene. We review reported cases of rhabdoid glioblastoma and summarize the clinical, radiological, and histological features.
authors.affiliation: Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. momota-nsu@umin.ac.jp
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Momota
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Iwami
authors.forename: Masazumi
authors.initials: M
authors.lastname: Fujii
authors.forename: Kazuya
authors.initials: K
authors.lastname: Motomura
authors.forename: Atsushi
authors.initials: A
authors.lastname: Natsume
authors.forename: Jiro
authors.initials: J
authors.lastname: Ogino
authors.forename: Tadashi
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Wakabayashi
mesh_terms: D014408:Biomarkers, Tumor; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D002648:Child; D002868:Chromosomal Proteins, Non-Histone / Q000032:analysis; D004268:DNA-Binding Proteins / Q000032:analysis; D017809:Fatal Outcome; D017353:Gene Deletion; D019942:Genes, p16; D005904:Glial Fibrillary Acidic Protein / Q000032:analysis; D005909:Glioblastoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D006470:Hemorrhage / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009336:Necrosis; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000032:analysis; D014746:Vimentin / Q000032:analysis
chemical_list: D014408:Biomarkers, Tumor; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D005904:Glial Fibrillary Acidic Protein; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors; D014746:Vimentin