The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system
Abstract PURPOSE: Clinicians and researchers must contextualize a patient’s genetic variants against population-based references with detailed phenotyping. We sought to establish globally scalable technology, policy, and procedures for…
Targeting PARP-1 with Alpha-Particles Is Potently Cytotoxic to Human Neuroblastoma in Preclinical Models
Abstract Alpha-emitters can be pharmacologically delivered for irradiation of single cancer cells, but cellular lethality could be further enhanced by targeting alpha-emitters directly to the nucleus. PARP-1 is…
Pediatric spinal cord biopsy: A case series from a high-volume referral center
Abstract Pediatric patients presenting with intramedullary spinal cord lesions often require specific diagnoses to guide their treatment plans. Though results from magnetic resonance imaging and lumbar puncture may…
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma
Abstract Neuroblastoma is a cancer of the developing sympathetic nervous system. It is diagnosed in 600-700 children per year in the United States and accounts for 12% of…
A pilot precision medicine trial for children with diffuse intrinsic pontine glioma—PNOC 003: A report from the Pacific Pediatric Neuro‐Oncology Consortium
Abstract This clinical trial evaluated whether whole exome sequencing (WES) and RNA sequencing (RNAseq) of paired normal and tumor tissues could be incorporated into a personalized treatment plan…
Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers
Abstract Gene fusions are one of the most common genomic alterations in pediatric cancer. Many fusions encode oncogenic drivers and play important roles in cancer diagnosis, risk stratification,…
Sclerosing Epithelioid Fibrosarcoma of the Bone With Rare EWSR1-CREB3L3 Translocation Driving Upregulation of the PI3K/mTOR Signaling Pathway
Abstract Sclerosing epithelioid fibrosarcoma (SEF) is an uncommon neoplasm that rarely presents in bone. It is characterized by epithelioid cells arranged in nests and single-file cords within a…
Immunotherapy for pediatric brain tumors: past and present
Abstract The field of cancer immunotherapy has progressed at an accelerated rate over the past decade. Pediatric brain tumors thus far have presented a formidable challenge for immunotherapy…
New D3b Research Projects – Spring 2019
Pediatric brain tumor miRNA profiling for the cohort of Children’s Brain Tumor Network specimens D³b’s The Molecular Diagnostics Research Unit (MDRU) will generate the data and lead this…
New D3b Research Collaborations – Spring 2019
Project Genie Project Genomics, Evidence, Neoplasia, Information, Exchange (Project GENIE) is an AACR pilot project that seeks to identify and validate genomic biomarkers relevant to cancer treatment…