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OpenPBTA: The Open Pediatric Brain Tumor Atlas

Joshua A. Shapiro, Krutika S. Gaonkar, Stephanie J. Spielman, Candace Savonen, Chanté J. Bethell, Run Jin, Komal S. Rathi, Yuankun Zhu, Laura E. Egolf, Bailey Farrow, Daniel P. Miller, Yang Yang, Tejaswi Koganti, Nighat Noureen, Mateusz Koptyra, Nhat Duong, Mariarita Santi, Jung Kim, Shannon Robins, Phillip B. Storm, Stephen C. Mack, Jena Lilly, Hongbo Xie, Payal Jain, Pichai Raman, Brian R. Rood, Rishi Lulla, Javad Nazarian, Adam Kraya, Zalman Vaksman, Allison P. Heath, Cassie Kline, Laura Scolaro, Angela N. Viaene, Xiaoyan Huang, Gregory P. Way, Steven M. Foltz, Bo Zhang, Anna R. Poetsch, Sabine Mueller, Brian Ennis, Michael D. Prados, Sharon J. Diskin, Siyuan Zheng, Yiran Guo, Shrivats Kannan, Angela J. Waanders, Ashley Margol, Meen Chul Kim, Derek Hanson, Nicholas Van Kuren, Jessica Wong, Rebecca Kaufman, Noel Coleman, Christopher Blackden, Kristina A. Cole, Jennifer L. Mason, Peter J. Madsen, Carl Koschmann, Douglas R. Stewart, Eric Wafula, Miguel Brown, Adam Resnick, Casey S. Greene, Jo Lynne Rokita, Jaclyn Taroni

2023Cell Genomics62 citationsDOIOpen Access PDF

Abstract

Pediatric brain and spinal cancers are collectively the leading disease-related cause of death in children; thus, we urgently need curative therapeutic strategies for these tumors. To accelerate such discoveries, the Children’s Brain Tumor Network (CBTN) and Pacific Pediatric Neuro-Oncology Consortium (PNOC) created a systematic process for tumor biobanking, model generation, and sequencing with immediate access to harmonized data. We leverage these data to establish OpenPBTA, an open collaborative project with over 40 scalable analysis modules that genomically characterize 1,074 pediatric brain tumors. Transcriptomic classification reveals universal TP53 dysregulation in mismatch repair-deficient hypermutant high-grade gliomas and TP53 loss as a significant marker for poor overall survival in ependymomas and H3 K28-mutant diffuse midline gliomas. Already being actively applied to other pediatric cancers and PNOC molecular tumor board decision-making, OpenPBTA is an invaluable resource to the pediatric oncology community.

Topics & Concepts

BiobankMedicineBrain tumorBioinformaticsOncologyPathologyBiologyGlioma Diagnosis and TreatmentRNA modifications and cancerEpigenetics and DNA Methylation
OpenPBTA: The Open Pediatric Brain Tumor Atlas | Litcius