PMC10108912_01
(A) H&E-stained sections of the biopsy showing a densely cellular diffuse glioma with vascular proliferation composed predominantly of cells with relatively uniform round nuclei, many of which had perinuclear halos. (B) Immunohistochemical staining for IDH1 p.R132H showing expression of the mutant protein in tumor cells. (C) Immunohistochemical staining for p53 showing strong nuclear staining in the majority of tumor cells consistent with the presence of a TP53 mutation. (D) Immunohistochemical staining for ATRX demonstrating loss of ATRX expression tumor cells but retained normal ATRX expression in endothelial cells. (E) Immunohistochemical staining for Ki67. Scale bar = 200um.
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Microscopic examination of hematoxylin and eosin (H&E) stained sections of the biopsy showed a densely cellular, highly mitotic diffuse glioma with vascular proliferation composed predominantly of cells with relatively uniform round nuclei, many of which had perinuclear halos (Figures 1A-E).
IGV traces showing somatic IDH1 p.R132H (C>T nucleotide change) and IDH2 p.R172S (C>G nucleotide change) mutations in the brain tumor tissue analyzed by NGS (Top). No IDH1 or IDH2 mutations were detected in DNA obtained from normal cells as a germline control (bottom). Red and blue bars represent forward and reverse sequencing reads, respectively. The reference nucleotide sequence for the depicted region of IDH1 and IDH2 is shown in the white bar in the lower portion of the figure. The "H", "R" and "G" letters at the bottom of the figure represent the corresponding reference amino acid sequence for IDH1 and IDH2 (H = histidine, R= arginine, G=glycine).
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TP53 R273C, and ATRX c3565del p.L1189* (Figure 2).
Patient care timeline from presentation to our institution until death.
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He died in 2021 (Figure 3).