作者: Sun-Ju Byeon , Hwa Jin Cho , Hae Woon Baek , Chul-Kee Park , Seung-Hong Choi
DOI: 10.1016/J.HUMPATH.2013.08.024
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摘要: Summary The clinicopathologic and molecular genetic features of 5 cases rhabdoid glioblastoma, an extremely rare variant glioblastoma that tends to affect patients at a young age, were investigated by immunohistochemical analysis focused studies including array-based comparative genomic hybridization. All had supratentorial tumors revealed be robustly positive for epithelial membrane antigen, vimentin, p53, PDGFR α (platelet-derived growth factor receptor, alpha polypeptide) but only focally glial fibrillary acidic protein. Although complete retention SMARCB1 ( INI1 ) was observed in all cases, epidermal receptor EGFR amplification, PTEN (phosphatase tensin homolog) loss, homozygous deletion cyclin-dependent kinase inhibitor 2A, 1p/19q codeletion, isocitrate dehydrogenase 1 R132/ IDH2 R172 mutation not any case, although high level polysomy detected recurrent tumor. c-MET (MET protein) expression focal 3 met proto-oncogene MET fluorescence situ hybridization low amplification. MGMT (O-6-methylguanine-DNA methyl-40 transferase) methylation–specific polymerase chain reaction methylation case. Furthermore, gain chromosome 7 loss 1p, 6, 8p, 11, 13q, 18q no 22. In contrast the classical subtype primary studied here characterized absence 9p overexpression , c-MET, suggesting they can classified as proneural or mesenchymal benefit from intensive therapy includes temozolomide.