Epithelioid/rhabdoid glioblastoma: a highly aggressive subtype of glioblastoma

• Published in: Brain tumor pathology Vol. 33; no. 2; pp. 137 - 146
• Main Authors: Sugimoto, Kazutaka, Ideguchi, Makoto, Kimura, Tokuhiro, Kajiwara, Koji, Imoto, Hirochika, Sadahiro, Hirokazu, Ishii, Aya, Kawano, Hiroo, Ikeda, Eiji, Suzuki, Michiyasu
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.04.2016; Springer Nature B.V
• Subjects: Adolescent; Adult; Brain cancer; Brain Neoplasms - diagnosis; Brain Neoplasms - genetics; Brain Neoplasms - pathology; Brain Neoplasms - therapy; Cancer Research; Combined Modality Therapy; Cytokeratin; Cytoplasm; Fatal Outcome; Female; Glioblastoma - diagnosis; Glioblastoma - genetics; Glioblastoma - pathology; Glioblastoma - therapy; Hematoma; Humans; Hydrocephalus; Magnetic Resonance Imaging; Medicine; Medicine & Public Health; Middle Aged; Molecular Targeted Therapy; Morphology; Mutation; Neuroimaging; Neurology; Neurosurgery; Oncology; Original Article; Pathology; Prognosis; Proteins; Proto-Oncogene Proteins B-raf - genetics; Radiation therapy; Treatment Outcome; Tumors; Young Adult; United States > US; Epithelioid glioblastoma; INI-1; V600E mutation; Rhabdoid glioblastoma; BRAF V600E mutation
• ISSN: 1433-7398; 1861-387X
• DOI: 10.1007/s10014-015-0243-3

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.