NCI Office of Data Sharing (ODS) Data Jamboree (Abstract Submissions): Submission #49

Abstract Summary The increasing availability of robust publicly accessible childhood cancer datasets offers a significant opportunity to advance research and improve outcomes for children with rare, understudied tumors such as pediatric brain cancers. Our project ideas aim to enhance existing data and web-based platforms, including those from the CCDI Molecular Characterization Initiative, by developing tools that make complex data more accessible to the pediatric brain cancer research community. We envision a user-friendly platform featuring interactive visualization tools such as oncoprints, survival plots, and mutation heatmaps that allow researchers without coding or bioinformatics expertise to build and analyze cohorts using clinical, genomic, pathology, treatment, and follow-up data. By enabling intuitive exploration, the tool will support clinicians, pathologists, and researchers in identifying patterns and generating hypotheses, particularly for rare or newly characterized tumor types.

A key component of CNS tumor classification is DNA methylation profiling. Current datasets have been processed with varying classifier versions, resulting in inconsistent tumor class labeling. To address this, we propose re-processing raw data files (.idat) using one or more current classifiers (e.g., NCI Bethesda, IGM v1.0). This approach will harmonize classification across datasets, improve diagnostic precision and support reproducibility and cross-study comparisons, with outputs made available via dbGaP. Additionally, we aim to leverage whole slide pathology images to develop algorithms for histopathologic feature extraction and machine learning. These algorithms could enhance diagnostic capabilities, especially important given the shortage of pediatric neuropathologists nationwide. By integrating clinical, genomic, and image-based data, this project will accelerate discovery in rare tumor types and inform clinical trial design and treatment strategies in pediatric neuro-oncology. We welcome collaboration on any or all aspects of this proposed work.