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Updated: Jan 7, 2026
Quantitative Immunohistochemistry of the Cellular Microenvironment in Patient Glioblastoma Resections
Published on: July 31, 2017
Staining the Invisible: Immunohistochemistry for Early Detection of Mismatch Repair Deficiency in Pediatric
Ulku Miray Yildirim1, Bilge Bilgiç2, Rejin Kebudi1
1Department of Pediatric Hematology-Oncology, Oncology Institute, Istanbul University, Istanbul, Türkiye.
Abstract:
Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive cancer predisposition syndrome, affecting primarily individuals from consanguineous families, leading to multiple childhood cancers, particularly high-grade central nervous system (CNS) tumors. We retrospectively analyzed 21 pediatric brain tumor samples for mismatch repair (MMR) protein expression via immunohistochemistry (IHC). One patient (4.7%) with anaplastic astrocytoma showed loss of MSH6. CMMRD was confirmed in this case via genetic testing in a sibling. IHC is a practical, low-cost screening tool, especially in resource-limited settings. Routine IHC for MMR proteins in pediatric high-grade CNS tumors may facilitate early CMMRD detection, optimize treatment, and support genetic counseling.
