ID #650 Learning From Every Rare Case: The Early Impact of an International Pediatric Rare Brain Tumor Board

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Abstract Background Rare pediatric and young adult brain tumors pose major diagnostic and therapeutic challenges due to limited evidence and scattered expertise. The International Rare Brain Tumor Board was established to enable multidisciplinary case review, shared learning, and collaborative decision support. Methods Launched in February 2025, the Rare Brain Tumor Board is a monthly collaborative initiative led by Children’s National Hospital and the National Institutes of Health (NIH). Close partnership with the European Pediatric Rare CNS Tumor Board enhances transatlantic exchange and alignment of diagnostic and treatment recommendations. De-identified cases are presented with clinical history, neuroimaging, histopathology, and molecular profiling, including DNA methylation classification, available for the majority of cases. Sessions are structured to support integrated diagnosis and evidence-informed management recommendations through multidisciplinary discussion (neuropathology, neuroradiology, neurosurgery, radiation oncology, and pediatric as well as adult neuro-oncology). Findings Since its inception, 12 sessions have been held averaging 138 participants per session, reviewing a total of 32 cases (mean 3 cases/session; range 1–4) from 7 different countries and 3 different continents. Entities reviewed include DICER1-intracranial sarcoma (n = 5), astroblastoma (n = 4), FOXR2-activated neuroblastoma (n = 4), CNS tumors with BCOR internal tandem duplication (n = 3) and, BCOR-fused tumors (n = 3), CIC-rearranged-sarcoma (n = 3), intracranial mesenchymal tumor FET::CREB fusion positive (n = 3), MN1::PATZ1 fusion tumors (n = 2), undifferentiated sarcoma (n = 2), PLAG1-fusion tumor (n = 1), medullomyoblastoma (n = 1), and EZHIP-altered diffuse midline glioma (DMG) (n = 1). Multidisciplinary review has supported diagnostic clarification, strengthened familiarity with ultra-rare entities, and informed real-world treatment discussions in settings where prospective data are limited. Discussions have also increased awareness of rare brain tumor registries and opportunities for systematic case capture. Conclusion An international multidisciplinary rare brain tumor board is a feasible, scalable model to advance integrated diagnosis and collaborative management of ultra-rare pediatric and young adult brain tumors, while building a shared knowledge base across institutions.

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