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  Indian J Med Microbiol
 

Figure 5: Unique features of high-grade gliomas in patients with CMMRD. (A) Bifocal glioblastoma: Two separate lesions (arrows) were diagnosed in an infant with CMMRD. Molecular and genetic analysis confirmed distinct biology, excluding the possibility of a metastatic disease. (B) MRI can reveal multiple developmental venous anomalies (arrow). (C) Pathology (hematoxylin & eosin) showing multi-nucleated giant cell (arrow) with inset showing positivity for GFAP and p53. (D) Glioblastoma with loss of PMS2 staining in cancer cells and normal tissue with retained staining for MLH1, MSH2 and MSH6, suggesting CMMRD. (E) A patient with glioblastoma and loss of PMS2 and MLH1 stains in tumor tissue and retained PMS2 and MLH1 staining of normal tissue suggesting Lynch syndrome. Stains for MSH2 and MSH6 were retained for both normal and tumor tissue. (F) High CD8+ T-cell infiltration and (G) PD-L1 expression in RRD gliomas make them amenable to immune checkpoint inhibition. Unpublished data. CMMRD: Constitutional mismatch repair deficiency syndrome, GFAP: Glial fibrillary acidic protein, MRI: Magnetic resonance imaging, PD-L1: Programmed death ligand 1, RRD: DNA replication repair deficiency

Figure 5: Unique features of high-grade gliomas in patients with CMMRD. (A) Bifocal glioblastoma: Two separate lesions (arrows) were diagnosed in an infant with CMMRD. Molecular and genetic analysis confirmed distinct biology, excluding the possibility of a metastatic disease. (B) MRI can reveal multiple developmental venous anomalies (arrow). (C) Pathology (hematoxylin & eosin) showing multi-nucleated giant cell (arrow) with inset showing positivity for GFAP and p53. (D) Glioblastoma with loss of PMS2 staining in cancer cells and normal tissue with retained staining for MLH1, MSH2 and MSH6, suggesting CMMRD. (E) A patient with glioblastoma and loss of PMS2 and MLH1 stains in tumor tissue and retained PMS2 and MLH1 staining of normal tissue suggesting Lynch syndrome. Stains for MSH2 and MSH6 were retained for both normal and tumor tissue. (F) High CD8+ T-cell infiltration and (G) PD-L1 expression in RRD gliomas make them amenable to immune checkpoint inhibition. Unpublished data. CMMRD: Constitutional mismatch repair deficiency syndrome, GFAP: Glial fibrillary acidic protein, MRI: Magnetic resonance imaging, PD-L1: Programmed death ligand 1, RRD: DNA replication repair deficiency