Objective To investigate clinicopathological and molecular genetic characteristics of giant cell glioblastoma(GCG).Methods The clinical data,and molecular genetics of 3 patients with GCG admitted to Department of Molecular Diagnosis,Sun Yat-sen University Cancer Center from March 2019 to February 2023 were analyzed retrospectively,and the relevant literature were reviewed.Results Among the 3 cases of GCG,1 was located in the frontal lobe and 2 were located in the temporal lobe.Histological features were heterogeneous multinucleated giant cells with rich eosinophilic cytoplasm,occasionally accompanied by rich reticular protein fibers.Immunohistochemical results showed that GFAP,ATRX,INI1 and p53 were positive in 2 tumor cells.Epidermal growth factor receptor(EGFR),vimentin and Olig2 were positive in 1 case.2 cases were negative for CK.1p19q was absent in 2 case.Ki-67 proliferation index was 20%,40%and 60%,respectively.Wild-type was found in 3 cases of isocitrate dehydrogenase(IDH)1/2,2 case of H3F3A,2 case of BRAF and 2 case of TERT.O6-methylguanine-DNA methyltransferase(MGMT)occurred in 2 cases.Second generation gene sequencing was performed in 2 cases,TP53 missense mutation and amplification of chromosome 7 were detected in 1 case.Another case didn't detect the pathogenic gene variation.Nonsense mutation of RB1 gene and missense mutation of TP53 and POLE gene were detected.Two local relapses occurred during the follow-up period.Conclusions GCG is a rare central nervous system tumor with unique histological morphology such as giant cells,as well as certain immune phenotypes and molecular genetics.It needs to be differentiated from glioblastoma with similar morphology and pleomorphic yellow tumor type astrocytoma with interstitial features.
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