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Amplification of th...
Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification
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- Keck, Michaela Kristina (författare)
- German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ)
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- Sill, Martin (författare)
- German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ)
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- Wittmann, Andrea (författare)
- Hopp Children’s Cancer Center Heidelberg (KiTZ),German Cancer Research Centre
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- Joshi, Piyush (författare)
- Hopp Children’s Cancer Center Heidelberg (KiTZ)
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- Stichel, Damian (författare)
- University Hospital Heidelberg,German Cancer Research Centre
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- Beck, Pengbo (författare)
- Hopp Children’s Cancer Center Heidelberg (KiTZ),Heidelberg University,German Cancer Research Centre
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- Okonechnikow, Konstantin (författare)
- Hopp Children’s Cancer Center Heidelberg (KiTZ),German Cancer Research Centre
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- Sievers, Philipp (författare)
- University Hospital Heidelberg,German Cancer Research Centre
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- Wefers, Annika K. (författare)
- University Medical Center Hamburg-Eppendorf
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- Roncaroli, Federico (författare)
- University of Manchester
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- Avula, Shivaram (författare)
- Alder Hey Children’s NHS Foundation Trust
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- McCabe, Martin G. (författare)
- University of Manchester
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- Hayden, James T. (författare)
- Alder Hey Children’s NHS Foundation Trust
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- Wesseling, Pieter (författare)
- Princess Maxima Center for Pediatric Oncology/Hematology,Academic Medical Center of University of Amsterdam (AMC)
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- Øra, Ingrid (författare)
- Lund University,Lunds universitet,Childhood Cancer Research Unit,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital
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- Nistér, Monica (författare)
- Karolinska Institutet,Karolinska Institute
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- Kranendonk, Mariëtte E.G. (författare)
- Princess Maxima Center for Pediatric Oncology/Hematology
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- Tops, Bastiaan B.J. (författare)
- Princess Maxima Center for Pediatric Oncology/Hematology
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- Zapotocky, Michal (författare)
- University Hospital Motol
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- Zamecnik, Josef (författare)
- University Hospital Motol
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- Vasiljevic, Alexandre (författare)
- Lyon Civil Hospital / Hospices Civils de Lyon
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- Fenouil, Tanguy (författare)
- Lyon Civil Hospital / Hospices Civils de Lyon
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- Meyronet, David (författare)
- Lyon Civil Hospital / Hospices Civils de Lyon
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- von Hoff, Katja (författare)
- Berlin Institute of Health (BIH)
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- Schüller, Ulrich (författare)
- University Medical Center Hamburg-Eppendorf,Research Institute Children’s Cancer Center Hamburg
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- Loiseau, Hugues (författare)
- University of Bordeaux
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- Figarella-Branger, Dominique (författare)
- Aix-Marseille University
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- Kramm, Christof M. (författare)
- University Medical Center Göttingen
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- Sturm, Dominik (författare)
- University Hospital Heidelberg,Hopp Children’s Cancer Center Heidelberg (KiTZ),German Cancer Research Centre
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- Scheie, David (författare)
- Copenhagen University Hospital
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- Rauramaa, Tuomas (författare)
- Kuopio University Hospital
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- Pesola, Jouni (författare)
- Kuopio University Hospital
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- Gojo, Johannes (författare)
- Medical University of Vienna
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- Haberler, Christine (författare)
- Medical University of Vienna
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- Brandner, Sebastian (författare)
- University College London,National Hospital for Neurology and Neurosurgery
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- Jacques, Tom (författare)
- UCL Institute of Child Health
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- Sexton Oates, Alexandra (författare)
- University of Melbourne
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- Saffery, Richard (författare)
- University of Melbourne
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- Koscielniak, Ewa (författare)
- Klinikum Stuttgart Olgahospital
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- Baker, Suzanne J. (författare)
- St Jude Children´s Research Hospital, Memphis
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- Yip, Stephen (författare)
- University of British Columbia
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- Snuderl, Matija (författare)
- NYU Grossman School of Medicine
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- Ud Din, Nasir (författare)
- Aga Khan University, Pakistan
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- Samuel, David (författare)
- Valley Children’s Hospital
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- Schramm, Kathrin (författare)
- German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ)
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- Blattner-Johnson, Mirjam (författare)
- Hopp Children’s Cancer Center Heidelberg (KiTZ),German Cancer Research Centre
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- Selt, Florian (författare)
- German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ),University Hospital Heidelberg
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- Ecker, Jonas (författare)
- Hopp Children’s Cancer Center Heidelberg (KiTZ),University Hospital Heidelberg,German Cancer Research Centre
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- Milde, Till (författare)
- German Cancer Research Centre,University Hospital Heidelberg,Hopp Children’s Cancer Center Heidelberg (KiTZ)
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- von Deimling, Andreas (författare)
- University Hospital Heidelberg,German Cancer Research Centre
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- Korshunov, Andrey (författare)
- University Hospital Heidelberg,German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ)
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- Perry, Arie (författare)
- University of California, San Francisco
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- Pfister, Stefan M (författare)
- German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ),University Hospital Heidelberg
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- Sahm, Felix (författare)
- Hopp Children’s Cancer Center Heidelberg (KiTZ),German Cancer Research Centre,University Hospital Heidelberg
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- Solomon, David A. (författare)
- University of California, San Francisco
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- Jones, David T W (författare)
- Hopp Children’s Cancer Center Heidelberg (KiTZ),German Cancer Research Centre
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(creator_code:org_t)
- 2022-11-27
- 2023
- Engelska 21 s.
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Ingår i: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 145:1, s. 49-69
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0–14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. Here, we use DNA methylation-based CNS tumor classification in combination with copy number, RNA-seq, and ChIP-seq analysis to characterize a newly identified CNS tumor type. In addition, we report histology, patient characteristics, and survival data in this tumor type. We describe a biologically distinct pediatric CNS tumor type (n = 31 cases) that is characterized by focal high-level amplification and resultant overexpression of either PLAGL1 or PLAGL2, and an absence of recurrent genetic alterations characteristic of other pediatric CNS tumor types. Both genes act as transcription factors for a regulatory subset of imprinted genes (IGs), components of the Wnt/β-Catenin pathway, and the potential drug targets RET and CYP2W1, which are also specifically overexpressed in this tumor type. A derived PLAGL-specific gene expression signature indicates dysregulation of imprinting control and differentiation/development. These tumors occurred throughout the neuroaxis including the cerebral hemispheres, cerebellum, and brainstem, and were predominantly composed of primitive embryonal-like cells lacking robust expression of markers of glial or neuronal differentiation (e.g., GFAP, OLIG2, and synaptophysin). Tumors with PLAGL1 amplification were typically diagnosed during adolescence (median age 10.5 years), whereas those with PLAGL2 amplification were diagnosed during early childhood (median age 2 years). The 10-year overall survival was 66% for PLAGL1-amplified tumors, 25% for PLAGL2-amplified tumors, 18% for male patients, and 82% for female patients. In summary, we describe a new type of biologically distinct CNS tumor characterized by PLAGL1/2 amplification that occurs predominantly in infants and toddlers (PLAGL2) or adolescents (PLAGL1) which we consider best classified as a CNS embryonal tumor and which is associated with intermediate survival. The cell of origin and optimal treatment strategies remain to be defined.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Nyckelord
- Molecular neuro-oncology
- Pediatric cancer
- PLAGL1
- PLAGL2
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- art (ämneskategori)
- ref (ämneskategori)
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Keck, Michaela K ...
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Sill, Martin
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Wittmann, Andrea
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Joshi, Piyush
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Stichel, Damian
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Beck, Pengbo
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visa fler...
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Okonechnikow, Ko ...
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Sievers, Philipp
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Wefers, Annika K ...
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Roncaroli, Feder ...
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Avula, Shivaram
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McCabe, Martin G ...
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Hayden, James T.
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Wesseling, Piete ...
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Øra, Ingrid
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Nistér, Monica
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Kranendonk, Mari ...
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Tops, Bastiaan B ...
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Zapotocky, Micha ...
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Zamecnik, Josef
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Vasiljevic, Alex ...
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Fenouil, Tanguy
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Meyronet, David
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von Hoff, Katja
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Schüller, Ulrich
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Loiseau, Hugues
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Figarella-Brange ...
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Kramm, Christof ...
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Sturm, Dominik
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Scheie, David
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Rauramaa, Tuomas
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Pesola, Jouni
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Gojo, Johannes
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Haberler, Christ ...
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Brandner, Sebast ...
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Jacques, Tom
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Sexton Oates, Al ...
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Saffery, Richard
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Koscielniak, Ewa
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Baker, Suzanne J ...
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Yip, Stephen
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Snuderl, Matija
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Ud Din, Nasir
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Samuel, David
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Schramm, Kathrin
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Blattner-Johnson ...
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Selt, Florian
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Ecker, Jonas
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Milde, Till
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von Deimling, An ...
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Korshunov, Andre ...
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Perry, Arie
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Pfister, Stefan ...
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Sahm, Felix
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Solomon, David A ...
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Jones, David T W
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