title: Epithelioid/rhabdoid glioblastoma: a highly aggressive subtype of glioblastoma.
abstract: Epithelioid glioblastoma (GBM) and rhabdoid GBM are rare variants that are morphologically similar, but there is no consensus on the characteristics of each disease. These tumors have aggressive features of early recurrence and leptomeningeal dissemination and tend to develop in younger patients compared to typical GBM. The prognosis is normally worse than typical GBM, even with intensive chemoradiotherapy after surgical resection. Thus, accurate diagnosis and effective therapy for epithelioid/rhabdoid GBM are required. Four consecutive patients aged 16-48 years were diagnosed with epithelioid/rhabdoid GBM by pathological and immunohistochemical analysis at Yamaguchi University Hospital from 2006 to 2012. Two of these patients had relatively long-term survival (19 and 23 months after diagnosis). Two cases had a BRAF V600E mutation, whereas no ATRX mutation was present in any cases. All patients suffered leptomeningeal and/or spinal dissemination that worsened their prognosis. These results illustrate the need for a new therapeutic approach, such as molecular targeted drug therapy like BRAF inhibition, in addition to standard chemoradiotherapy for typical GBM.
authors.affiliation: Department of Neurosurgery, Yamaguchi University School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan.
authors.forename: Kazutaka
authors.initials: K
authors.lastname: Sugimoto
authors.affiliation: Department of Neurosurgery, Yamaguchi University School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan. ideguchi@yamaguchi-u.ac.jp.
authors.forename: Makoto
authors.initials: M
authors.lastname: Ideguchi
authors.affiliation: Department of Pathology, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan.
authors.forename: Tokuhiro
authors.initials: T
authors.lastname: Kimura
authors.affiliation: Department of Neurosurgery, Ube-nishi Rehabilitation Hospital, 797 Okinodan, Ube, Yamaguchi, 759-0207, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Kajiwara
authors.affiliation: Department of Neurosurgery, Yamaguchi University School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan.
authors.forename: Hirochika
authors.initials: H
authors.lastname: Imoto
authors.affiliation: Department of Neurosurgery, Yamaguchi University School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Sadahiro
authors.affiliation: Department of Pathology, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Ishii
authors.affiliation: Department of Pathology, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan.
authors.forename: Hiroo
authors.initials: H
authors.lastname: Kawano
authors.affiliation: Department of Pathology, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Ikeda
authors.affiliation: Department of Neurosurgery, Yamaguchi University School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan.
authors.forename: Michiyasu
authors.initials: M
authors.lastname: Suzuki
mesh_terms: D000293:Adolescent; D000328:Adult; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D003131:Combined Modality Therapy; D017809:Fatal Outcome; D005260:Female; D005909:Glioblastoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D058990:Molecular Targeted Therapy; D009154:Mutation; D059906:Neuroimaging; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF V600E mutation; Epithelioid glioblastoma; INI-1; Rhabdoid glioblastoma