title: Clinicopathology of diffuse intrinsic pontine glioma and its redefined genomic and epigenomic landscape.
abstract: Diffuse intrinsic pontine glioma (DIPG) is one of the most lethal pediatric central nervous system (CNS) cancers. Recently, a surge in molecular studies of DIPG has occurred, in large part due to the increased availability of tumor tissue through donation of post-mortem specimens. These new discoveries have established DIPGs as biologically distinct from adult gliomas, harboring unique genomic aberrations. Mutations in histone encoding genes are shown to be associated with >70% of DIPG cases. However, the exact molecular mechanisms of the tumorigenicity of these mutations remain elusive. Understanding the driving mutations and genomic landscape of DIPGs can now guide the development of targeted therapies for this incurable childhood cancer.
authors.affiliation: Institute for Biomedical Sciences, George Washington University School of Medicine, Washington, DC, USA; Research Center for Genetic Medicine, Children's National Health System, Washington, DC, USA.
authors.forename: Eshini
authors.initials: E
authors.lastname: Panditharatna
authors.affiliation: Department of Neurosurgery, Georgetown University School of Medicine, Washington, DC, USA.
authors.forename: Kurt
authors.initials: K
authors.lastname: Yaeger
authors.affiliation: Division of Oncology, Center for Cancer and Immunology Research, Children's National Health System, Washington, DC, USA.
authors.forename: Lindsay B
authors.initials: LB
authors.lastname: Kilburn
authors.affiliation: Brain Tumor Institute, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC, USA.
authors.forename: Roger J
authors.initials: RJ
authors.lastname: Packer
authors.affiliation: Research Center for Genetic Medicine, Children's National Health System, Washington, DC, USA; Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA. Electronic address: jnazarian@childrensnational.org.
authors.forename: Javad
authors.initials: J
authors.lastname: Nazarian
mesh_terms: D020295:Brain Stem Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002648:Child; D057890:Epigenomics; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D023281:Genomics; D005910:Glioma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006657:Histones / Q000235:genetics; D006801:Humans; D009154:Mutation
chemical_list: D006657:Histones
keywords: DIPG; High grade glioma; brainstem glioma; diffuse intrinsic pontine glioma; glioma