Rejin Kebudi, Professor of Pediatrics and Pediatric Hematology-Oncology at the Istanbul University, shared a post on LinkedIn about a paper she co-authored with her colleagues published in Pediatric Blood and Cancer:
“We want to share our recently published study on the use of immunohistochemistry (IHC) in the early detection of mismatch repair deficiency (MMRD) in pediatric high-grade brain tumors:
‘Staining the Invisible: Immunohistochemistry for Early Detection of Mismatch Repair Deficiency in Pediatric High-Grade Brain Tumors’.
Special thanks go to Miray Yıldırım and to Turkish Pediatric Oncology Society for their support.
We had also emphasized the role of IHC as first line tool for detecting loss of MMR protein expression in tumor samples, for early detection, especially in LMICs, in the ‘Position Paper: Challenges and Specific Strategies for Constitutional Mismatch Repair Deficiency Syndrome in Low-Resource Settings,’ Pediatric Blood and Cancer (2020).
Although IHC is recommended as first-line tool for detecting loss of MMR protein expression, it can miss the diagnosis in about 15% of cases, particularly in tumors with retained but non- functional MMR proteins or with subtle expression patterns.
Therefore, if IHC results do not align with the clinical suspicion, techniques with improved sensitivity—such as MSI testing or sequencing-based assays like LOGIC should be considered (A. Das, A. B. Ercan, and U. Tabori, Neuro-oncology Advances (2024)).”
Title: Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low-resource settings
Authors: Rejin Kebudi, Nisreen Amayiri, Malak Abedalthagafi, Asım Noor Rana, Salman Kirmani, Naureen Musthaq, Zakiya Al Lamki, Jamila El Houdzi, Hulya Yazici, Shahenda El-Naggar, Melissa Edwards, Vanessa J. Bianchi, Carol Durno, Uri Tabori, and Eric Bouffet.
You can read the full paper in Pediatric Blood and Cancer.
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