Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-04-06

AUTHORS

Pawel Buczkowicz, Christine Hoeman, Patricia Rakopoulos, Sanja Pajovic, Louis Letourneau, Misko Dzamba, Andrew Morrison, Peter Lewis, Eric Bouffet, Ute Bartels, Jennifer Zuccaro, Sameer Agnihotri, Scott Ryall, Mark Barszczyk, Yevgen Chornenkyy, Mathieu Bourgey, Guillaume Bourque, Alexandre Montpetit, Francisco Cordero, Pedro Castelo-Branco, Joshua Mangerel, Uri Tabori, Ching Ho, Annie Huang, Kathryn R. Taylor, Alan Mackay, Anne E Bendel, Javad Nazarian, Jason R Fangusaro, Matthias A. Karajannis, David Zagzag, Nicholas K. Foreman, Andrew Donson, Julia V. Hegert, Amy Smith, Jennifer Chan, Lucy Lafay-Cousin, Sandra Dunn, Juliette Hukin, Chris Dunham, Katrin Scheinemann, Jean Michaud, Shayna Zelcer, David Ramsay, Jason Cain, Cameron Brennan, Mark M. Souweidane, Chris Jones, C. David Allis, Michael Brudno, Oren Becher, Cynthia Hawkins

ABSTRACT

Diffuse intrinsic pontine glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children, with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate location of these tumors and to the selection of therapies on the basis of assumptions that DIPGs are molecularly similar to adult disease. Recent studies have unraveled the unique genetic makeup of this brain cancer, with nearly 80% found to harbor a p.Lys27Met histone H3.3 or p.Lys27Met histone H3.1 alteration. However, DIPGs are still thought of as one disease, with limited understanding of the genetic drivers of these tumors. To understand what drives DIPGs, we integrated whole-genome sequencing with methylation, expression and copy number profiling, discovering that DIPGs comprise three molecularly distinct subgroups (H3-K27M, silent and MYCN) and uncovering a new recurrent activating mutation affecting the activin receptor gene ACVR1 in 20% of DIPGs. Mutations in ACVR1 were constitutively activating, leading to SMAD phosphorylation and increased expression of the downstream activin signaling targets ID1 and ID2. Our results highlight distinct molecular subgroups and novel therapeutic targets for this incurable pediatric cancer. More... »

PAGES

451-456

Journal

TITLE

Nature Genetics

ISSUE

5

VOLUME

46

Author Affiliations

  • Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto
  • Division of Pediatric Hematology/Oncology, Duke University Medical Center, Durham, USA
  • The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto Canada
  • Genome Quebec Innovation Centre, McGill University, Montreal, Canada
  • Department of Computer Science, University of Toronto, Canada
  • Laboratory of Chromatin Biology & Epigenetics, The Rockefeller University, New York, USA
  • Division of Haematology & Oncology, The Hospital for Sick Children, Toronto, Canada
  • Division of Cancer Therapeutics, The Institute of Cancer Research, London, United Kingdom
  • Department of Pediatric Hematology-Oncology, Children’s Hospitals and Clinics of Minnesota, Minneapolis, USA
  • Center for Genetic Medicine, Children’s National Medical Center, Washington DC, USA
  • Department of Pediatrics-Hematology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, USA
  • Division of Pediatric Hematology/Oncology and Neuropathology, NYU Cancer Institute, NYU Langone Medical Center, New York, USA
  • Department of Pediatrics, Children’s Hospital Colorado, Colorado, USA
  • Department of Pathology, Arnold Palmer Hospital for Children, Orlando, USA
  • Clark H. Smith Brain Tumour Centre, Faculty of Medicine, University of Calgary, Calgary, Canada
  • Department of Pediatric Neurology and Neuro-Oncology, BC Children’s Hospital, Vancouver, Canada
  • Division of Hematology/Oncology, McMaster Children’s Hospital, Hamilton, Canada
  • Department of Pathology and Laboratory Medicine, Children’s Hospital of Eastern Ontario, Ottawa, Canada
  • Department of Hematology/Oncology, Children’s Hospital London Health Sciences Centre, London, Canada
  • Monash Institute of Medical Research, Monash Medical Centre, Clayton, Australia
  • Department of Neurological Surgery, Weill Cornell Medical College and Memorial Sloan-Kettering Cancer Center, New York, USA
  • The Centre for Applied Genomics (TCAG), The Hospital for Sick Children, Toronto, Canada
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.2936

    DOI

    http://dx.doi.org/10.1038/ng.2936

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1001846341

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24705254


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    33 schema:description Diffuse intrinsic pontine glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children, with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate location of these tumors and to the selection of therapies on the basis of assumptions that DIPGs are molecularly similar to adult disease. Recent studies have unraveled the unique genetic makeup of this brain cancer, with nearly 80% found to harbor a p.Lys27Met histone H3.3 or p.Lys27Met histone H3.1 alteration. However, DIPGs are still thought of as one disease, with limited understanding of the genetic drivers of these tumors. To understand what drives DIPGs, we integrated whole-genome sequencing with methylation, expression and copy number profiling, discovering that DIPGs comprise three molecularly distinct subgroups (H3-K27M, silent and MYCN) and uncovering a new recurrent activating mutation affecting the activin receptor gene ACVR1 in 20% of DIPGs. Mutations in ACVR1 were constitutively activating, leading to SMAD phosphorylation and increased expression of the downstream activin signaling targets ID1 and ID2. Our results highlight distinct molecular subgroups and novel therapeutic targets for this incurable pediatric cancer.
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