A CASE OF DIFFUSE PEDIATRIC-TYPE HIGH GRADE GLIOMA IN A 9-YEAR OLD GIRL WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY (SIOP 2026) - Oct 23, 2026 - Abstract #VIRTUAL-117; "The patient underwent brain radiation therapy and was started on nivolumab and trametinib. As CMMRD is ultra-rare, raising awareness is critical. The combination of CNS tumor, hepatic adenoma, and cutaneous findings prompted genetic testing, leading to the CMMRD diagnosis. This underscores the need to consider rare genetic syndromes in pediatric cancer evaluations, as appropriate treatment and monitoring improves patient outcomes."
Clinical • Mismatch repair • Tumor mutational burden • Brain Cancer • CNS Tumor • Gastric Cancer • Glioma • Hepatocellular Cancer • High Grade Glioma • Pediatrics • Solid Tumor • MLH1 • MSH2 • MSH6 • PMS2 • POLE • TMB
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Victoria Mazo1; Krupesh Patel2
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