title: Histological and molecular analysis of a progressive diffuse intrinsic pontine glioma and synchronous metastatic lesions: a case report.
abstract: There is no curative treatment for patients with diffuse intrinsic pontine glioma (DIPG). However, with the recent availability of biopsy and autopsy tissue, new data regarding the biologic behavior of this tumor have emerged, allowing greater molecular characterization and leading to investigations which may result in improved therapeutic options. Treatment strategies must address both primary disease sites as well as any metastatic deposits, which may be variably sensitive to a particular approach.In this case report, we present a patient with DIPG treated with irradiation and serial investigational agents. The clinical, pathological and molecular phenotypes of both the progressive primary tumor as well as concomitant metastatic deposits obtained at autopsy are discussed. While some mRNA differences were demonstrated, all analyzed sites of disease shared similar mutational arrangements, suggesting that targeting the mutations of the primary tumor may be effective for all sites of disease.
authors.affiliation: Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA.|Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
authors.forename: Javad
authors.initials: J
authors.lastname: Nazarian
authors.affiliation: University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
authors.forename: Gary E
authors.initials: GE
authors.lastname: Mason
authors.affiliation: Department of Pathology, Children's National Medical Center, Washington, DC, USA.
authors.forename: Cheng Ying
authors.initials: CY
authors.lastname: Ho
authors.affiliation: Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA.|Institute for Biomedical Sciences, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
authors.forename: Eshini
authors.initials: E
authors.lastname: Panditharatna
authors.affiliation: Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA.
authors.forename: Madhuri
authors.initials: M
authors.lastname: Kambhampati
authors.affiliation: Division of Neuro-radiology, Children's National Medical Center, Washington, DC, USA.
authors.forename: L Gilbert
authors.initials: LG
authors.lastname: Vezina
authors.affiliation: Brain Tumor Institute, Daniel and Jennifer Gilbert Neurofibromatosis Institute, Neuroscience and Behavioral Medicine, Children's National Medical Center, NW, Washington, DC, USA.
authors.forename: Roger J
authors.initials: RJ
authors.lastname: Packer
authors.affiliation: Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, DC, USA.
authors.forename: Eugene I
authors.initials: EI
authors.lastname: Hwang
mesh_terms: D001344:Autopsy; D001706:Biopsy; D001932:Brain Neoplasms / Q000473:pathology*; D020295:Brain Stem Neoplasms / Q000473:pathology; D002648:Child; D018450:Disease Progression; D005260:Female; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic; D005910:Glioma / Q000473:pathology*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009362:Neoplasm Metastasis; D010641:Phenotype; D011149:Pons / Q000473:pathology; D025341:Principal Component Analysis; D012333:RNA, Messenger / Q000378:metabolism; D016896:Treatment Outcome
chemical_list: D012333:RNA, Messenger
keywords: DIPG; Pathology Section; autopsy tissue; metastasis; molecular; phenotype