CRAF Gene Fusions in Pediatric Low-grade Gliomas Define a Distinct Drug Response Based on Dimerization Profiles
Pediatric low-grade gliomas (PLGGs) are commonly associated with BRAFgene fusions that aberrantly activate the mitogen-activated protein kinase (MAPK) signaling pathway. This has led to PLGG clinical trials utilizing RAF-…
Shared ACVR1 Mutations in FOP and DIPG: Opportunities and Challenges in Extending Biological and Clinical Implications Across Rare Diseases
Gain-of-function mutations in the Type I Bone Morphogenic Protein (BMP) receptor ACVR1 have been identified in two diseases: Fibrodysplasia Ossificans Progressiva (FOP), a rare autosomal dominant disorder characterized…
Pediatric Low-grade Gliomas with CRAF Gene Fusions are Therapeutically Distinct from Braf-Fusions Based on Dimerization Mediated by N-Terminal Fusion Partner
Pediatric low-grade gliomas (PLGGs) are the most common brain tumors in children mainly defined by activating gene fusions that dysregulate the mitogen-associated protein kinase (MAPK) pathway. Our lab…
MYB-QKI Drives Childhood Brain Tumors via Tripartite Mechanism
Pediatric brain tumors are the leading cause of disease related death in children with pediatric low-grade gliomas (PLGGs) as the most commonly diagnosed sub-type. While surgery remains the…
Transcriptome Analysis of IL-10-stimulated (M2c) Macrophages by Next-generation Sequencing
Alternatively activated “M2” macrophages are believed to function during late stages of wound healing, behaving in an anti-inflammatory manner to mediate the resolution of the pro-inflammatory response caused…
Pediatric Low-grade Gliomas with CRAF Fusions Respond Differentially to Targeted Therapeutics Based on their Dimerization Profiles
INTRODUCTION Recent studies have identified QKI-RAF1 and SRGAP3-RAF1 as CRAF (or RAF1) fusions in pediatric low-grade gliomas (PLGGs). CRAF fusions, like BRAF fusions are activating mutations driving the…
The Biorepository Portal Toolkit: An Honest-Brokered, Modular, Service-Oriented Software Tool Set for Biospecimen-driven Translational Research
Background High throughput molecular sequencing and increased biospecimen variety have introduced significant informatics challenges for research biorepository infrastructures. We applied a modular system integration approach to develop an…
PedcBioPortal: A Cancer Data Visualization Tool for Integrative Pediatric Cancer Analyses
The pediatric cancer genome is severely under-represented in genomic databases as existing data portals have primarily focused on adult cancers. Furthermore, large-scale datasets like TARGET remain devoid of…
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome
Neuroblastoma is characterized by a relative paucity of recurrent somatic mutations at diagnosis. However, recent studies have shown that the mutational burden increases at relapse, likely as a…
MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism
Angiocentric gliomas are pediatric low-grade gliomas (PLGGs) without known recurrent genetic drivers. We performed genomic analysis of new and published data from 249 PLGGs, including 19 angiocentric gliomas….