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New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
D. Sturm, BA. Orr, UH. Toprak, V. Hovestadt, DT. Jones, D. Capper, M. Sill, I. Buchhalter, PA. Northcott, I. Leis, M. Ryzhova, C. Koelsche, E. Pfaff, SJ. Allen, G. Balasubramanian, BC. Worst, KW. Pajtler, S. Brabetz, PD. Johann, F. Sahm, J....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
NLK
Cell Press Free Archives
od 1995-01-01 do Před 1 rokem
Free Medical Journals
od 1995 do Před 1 rokem
Open Access Digital Library
od 1995-01-01
Elsevier Open Access Journals
od 1995-01-13 do 2023-06-22
Elsevier Open Archive Journals
od 1995-01-13 do Před 1 rokem
- MeSH
- dítě MeSH
- forkhead transkripční faktory genetika MeSH
- lidé MeSH
- metylace DNA * MeSH
- molekulární sekvence - údaje MeSH
- nádorové supresorové proteiny genetika MeSH
- nádory centrálního nervového systému klasifikace diagnóza genetika patologie MeSH
- neuroektodermové nádory klasifikace diagnóza genetika patologie MeSH
- protoonkogenní proteiny chemie genetika MeSH
- regulace genové exprese u nádorů MeSH
- represorové proteiny chemie genetika MeSH
- sekvence aminokyselin MeSH
- signální transdukce MeSH
- stanovení celkové genové exprese MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly aggressive, poorly differentiated embryonal tumors occurring predominantly in young children but also affecting adolescents and adults. Herein, we demonstrate that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors. From the remaining fraction of CNS-PNETs, we identify four new CNS tumor entities, each associated with a recurrent genetic alteration and distinct histopathological and clinical features. These new molecular entities, designated "CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2)," "CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC)," "CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1)," and "CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)," will enable meaningful clinical trials and the development of therapeutic strategies for patients affected by poorly differentiated CNS tumors.
BIOSS Centre for Biological Signalling Studies University of Freiburg 79106 Freiburg Germany
Brain Tumor Research Center University of California San Francisco San Francisco CA 94158 9001 USA
Centre de Pathologie et de Neuropathologie Est Hospices Civils de Lyon 69003 Lyon France
Children's Health Queensland Hospital and Health Service Brisbane QLD 4101 Australia
Clinical Cooperation Unit Neuropathology German Cancer Research Center 69120 Heidelberg Germany
Cnopf'sche Kinderklinik Nürnberg Children's Hospital 90419 Nürnberg Germany
Comprehensive Cancer Center Mainfranken University and University Hospital 97080 Würzburg Germany
Department of Hematology and Oncology Children's University Hospital Tübingen 72076 Tübingen Germany
Department of Medical Biophysics University of Toronto Toronto ON M5G 1L7 Canada
Department of Neuro Oncology University of Texas MD Anderson Cancer Center Houston TX 77030 USA
Department of Neuropathology AMC University of Amsterdam 1105 AZ Amsterdam the Netherlands
Department of Neuropathology Heidelberg University Hospital 69120 Heidelberg Germany
Department of Neuropathology Heinrich Heine University 40225 Düsseldorf Germany
Department of Neuropathology Hôpital Sainte Anne 75674 Paris France
Department of Neuropathology Institute of Pathology Basel University Hospital 4031 Basel Switzerland
Department of Neuropathology Institute of Pathology University of Würzburg 97080 Würzburg Germany
Department of Neuropathology Ludwig Maximilians University 81377 Munich Germany
Department of Neuropathology Medical Center Bielefeld 33617 Bielefeld Germany
Department of Neuropathology University of Bonn Medical School 53105 Bonn Germany
Department of Neurosurgery Heidelberg University Hospital 69120 Heidelberg Germany
Department of Oncogenomics AMC University of Amsterdam 1105 AZ Amsterdam the Netherlands
Department of Oncology Luzerner Kantonsspital 6000 Luzern 16 Switzerland
Department of Oncology St Jude Children's Research Hospital Memphis TN 38105 USA
Department of Pathology and Immunology Washington University St Louis MO 63110 USA
Department of Pathology Children's Hospital of Philadelphia Philadelphia PA 19104 USA
Department of Pathology Children's Memorial Health Institute 04 730 Warsaw Poland
Department of Pathology Copenhagen University Hospital 2100 København Ø Denmark
Department of Pathology Medical Center Aarau 5001 Aarau Switzerland
Department of Pathology Radboud University Nijmegen Medical Center 6525 GA Nijmegen the Netherlands
Department of Pathology St Jude Children's Research Hospital Memphis TN 38105 3678 USA
Department of Pathology University Hospital Bern 3010 Bern Switzerland
Department of Pathology VU University Medical Center Amsterdam 1008 MB Amsterdam the Netherlands
Department of Pediatric Hematology and Oncology Hadassah Medical Center Jerusalem 91120 Israel
Department of Pediatrics and Adolescent Medicine Medical University of Vienna 1090 Vienna Austria
Department of Women's and Children's Health Karolinska Institutet 171 77 Stockholm Sweden
Departments of Neurology and Neurosurgery Henry Ford Hospital Detroit MI 48202 USA
Division of Applied Bioinformatics German Cancer Research Center Heidelberg 69120 Heidelberg Germany
Division of Biostatistics German Cancer Research Center Heidelberg 69120 Heidelberg Germany
Division of Molecular Genetics German Cancer Research Center Heidelberg 69120 Heidelberg Germany
Division of Molecular Pathology the Institute of Cancer Research London SW7 3RP UK
Division of Neuropathology Department of Pathology NYU Langone Medical Center New York NY 10016 USA
Division of Oncology Cincinnati Children's Hospital Medical Center Cincinnati OH 45229 USA
German Cancer Consortium Core Center Heidelberg 69120 Heidelberg Germany
German Cancer Consortium Partner Site Essen Düsseldorf 40225 Düsseldorf Germany
German Cancer Consortium Partner Site Munich 81377 Munich Germany
German Cancer Consortium Partner Site Tübingen 72076 Tübingen Germany
Heidelberg Center for Personalized Oncology DKFZ HIPO 69120 Heidelberg Germany
Institute of Neurology Medical University of Vienna 1097 Vienna Austria
Institute of Neuropathology University Hospital Münster 48149 Münster Germany
Institute of Neuropathology University Hospital Otto von Guericke University 39120 Magdeburg Germany
Institute of Neuropathology University Medical Center Hamburg Eppendorf 20246 Hamburg Germany
Institute of Neuropathology University of Freiburg 79106 Freiburg Germany
IRCCS Neuromed 86077 Pozzilli Molise Italy
McGill University and Genome Quebec Innovation Centre Montreal QC H3A 1A4 Canada
NN Burdenko Neurosurgical Institute Moscow 125047 Russia
NYU School of Medicine New York NY 10016 USA
Ontario Institute for Cancer Research Toronto ON M5G 0A3 Canada
Pathology Unit Anna Meyer Children's University Hospital 50141 Florence Italy
Pediatric Hospital Klinikum Augsburg 86156 Augsburg Germany
Pediatric Neurosurgery Department Necker Enfants Malades Hospital 75015 Paris France
Citace poskytuje Crossref.org
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- $a Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly aggressive, poorly differentiated embryonal tumors occurring predominantly in young children but also affecting adolescents and adults. Herein, we demonstrate that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors. From the remaining fraction of CNS-PNETs, we identify four new CNS tumor entities, each associated with a recurrent genetic alteration and distinct histopathological and clinical features. These new molecular entities, designated "CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2)," "CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC)," "CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1)," and "CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)," will enable meaningful clinical trials and the development of therapeutic strategies for patients affected by poorly differentiated CNS tumors.
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
- $a van Meter, Timothy $u Virginia Commonwealth University, Richmond, VA 23298, USA.
- 700 1_
- $a Monoranu, Camelia-Maria $u Department of Neuropathology, Institute of Pathology, University of Würzburg, 97080 Würzburg, Germany; Comprehensive Cancer Center (CCC) Mainfranken, University and University Hospital, 97080 Würzburg, Germany.
- 700 1_
- $a Felsberg, Jörg $u Department of Neuropathology, Heinrich-Heine-University, 40225 Düsseldorf, Germany; German Cancer Consortium (DKTK) Partner Site Essen/Düsseldorf, 40225 Düsseldorf, Germany.
- 700 1_
- $a Reifenberger, Guido $u Department of Neuropathology, Heinrich-Heine-University, 40225 Düsseldorf, Germany; German Cancer Consortium (DKTK) Partner Site Essen/Düsseldorf, 40225 Düsseldorf, Germany.
- 700 1_
- $a Snuderl, Matija $u Division of Neuropathology, Department of Pathology, NYU Langone Medical Center, New York, NY 10016, USA.
- 700 1_
- $a Forrester, Lynn Ann $u NYU School of Medicine, New York, NY 10016, USA.
- 700 1_
- $a Koster, Jan $u Department of Oncogenomics, AMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.
- 700 1_
- $a Versteeg, Rogier $u Department of Oncogenomics, AMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.
- 700 1_
- $a Volckmann, Richard $u Department of Oncogenomics, AMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.
- 700 1_
- $a van Sluis, Peter $u Department of Oncogenomics, AMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.
- 700 1_
- $a Wolf, Stephan $u German Cancer Consortium (DKTK) Core Center Heidelberg, 69120 Heidelberg, Germany; Genomics and Proteomics Core Facility, High Throughput Sequencing Unit, German Cancer Research Center (DKFZ) Heidelberg, 69120 Heidelberg, Germany.
- 700 1_
- $a Mikkelsen, Tom $u Departments of Neurology and Neurosurgery, Henry Ford Hospital, Detroit, MI 48202, USA.
- 700 1_
- $a Gajjar, Amar $u Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
- 700 1_
- $a Aldape, Kenneth $u Department of Neuro-Oncology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
- 700 1_
- $a Moore, Andrew S $u The University of Queensland, Brisbane, QLD 4072, Australia; Children's Health Queensland Hospital and Health Service, Brisbane, QLD 4101, Australia.
- 700 1_
- $a Taylor, Michael D $u Program in Developmental and Stem Cell Biology, Division of Neurosurgery, Arthur and Sonia Labatt Brain Tumour Research Centre, Hospital for Sick Children, University of Toronto, Toronto, ON M4N 1X8, Canada.
- 700 1_
- $a Jones, Chris $u Division of Molecular Pathology, the Institute of Cancer Research, London SW7 3RP, UK.
- 700 1_
- $a Jabado, Nada $u McGill University and Genome Quebec Innovation Centre, Montreal, QC H3A 1A4, Canada.
- 700 1_
- $a Karajannis, Matthias A $u Division of Pediatric Hematology/Oncology, Departments of Pediatrics and Otolaryngology, NYU Langone Medical Center and Laura and Isaac Perlmutter Cancer Center, NY 10016, New York, USA.
- 700 1_
- $a Eils, Roland $u German Cancer Consortium (DKTK) Core Center Heidelberg, 69120 Heidelberg, Germany; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ) Heidelberg, 69120 Heidelberg, Germany; Department for Bioinformatics and Functional Genomics, Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University, 69120 Heidelberg, Germany; Heidelberg Center for Personalized Oncology, DKFZ-HIPO, 69120 Heidelberg, Germany.
- 700 1_
- $a Schlesner, Matthias $u German Cancer Consortium (DKTK) Core Center Heidelberg, 69120 Heidelberg, Germany; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ) Heidelberg, 69120 Heidelberg, Germany.
- 700 1_
- $a Lichter, Peter $u German Cancer Consortium (DKTK) Core Center Heidelberg, 69120 Heidelberg, Germany; Division of Molecular Genetics, German Cancer Research Center (DKFZ) Heidelberg, 69120 Heidelberg, Germany; Heidelberg Center for Personalized Oncology, DKFZ-HIPO, 69120 Heidelberg, Germany.
- 700 1_
- $a von Deimling, Andreas $u German Cancer Consortium (DKTK) Core Center Heidelberg, 69120 Heidelberg, Germany; Department of Neuropathology, Heidelberg University Hospital, 69120 Heidelberg, Germany; Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
- 700 1_
- $a Pfister, Stefan M $u Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) Heidelberg, 69120 Heidelberg, Germany; German Cancer Consortium (DKTK) Core Center Heidelberg, 69120 Heidelberg, Germany; Department of Pediatric Oncology, Hematology, & Immunology, Heidelberg University Hospital, 69120 Heidelberg, Germany.
- 700 1_
- $a Ellison, David W $u Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105-3678, USA.
- 700 1_
- $a Korshunov, Andrey $u German Cancer Consortium (DKTK) Core Center Heidelberg, 69120 Heidelberg, Germany; Department of Neuropathology, Heidelberg University Hospital, 69120 Heidelberg, Germany; Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
- 700 1_
- $a Kool, Marcel $u Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) Heidelberg, 69120 Heidelberg, Germany; German Cancer Consortium (DKTK) Core Center Heidelberg, 69120 Heidelberg, Germany. Electronic address: m.kool@dkfz.de.
- 773 0_
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