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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Fältnamn	Indikatorer	Metadata
000		10147naa a2201093 4500
001		oai:lup.lub.lu.se:18126edf-6718-4009-b45d-cb3fc5e380f4
003		SwePub
008		221220s2023 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:151297922
024	7	a https://lup.lub.lu.se/record/18126edf-6718-4009-b45d-cb3fc5e380f42 URI
024	7	a https://doi.org/10.1007/s00401-022-02516-22 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1512979222 URI
040		a (SwePub)lud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Keck, Michaela Kristinau German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ)4 aut
245	1 0	a Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification
264		c 2022-11-27
264	1	b Springer Science and Business Media LLC,c 2023
300		a 21 s.
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng
653		a Molecular neuro-oncology
653		a Pediatric cancer
653		a PLAGL1
653		a PLAGL2
700	1	a Sill, Martinu German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ)4 aut
700	1	a Wittmann, Andreau Hopp Children’s Cancer Center Heidelberg (KiTZ),German Cancer Research Centre4 aut
700	1	a Joshi, Piyushu Hopp Children’s Cancer Center Heidelberg (KiTZ)4 aut
700	1	a Stichel, Damianu German Cancer Research Centre,University Hospital Heidelberg4 aut
700	1	a Beck, Pengbou Hopp Children’s Cancer Center Heidelberg (KiTZ),Heidelberg University,German Cancer Research Centre4 aut
700	1	a Okonechnikow, Konstantinu Hopp Children’s Cancer Center Heidelberg (KiTZ),German Cancer Research Centre4 aut
700	1	a Sievers, Philippu University Hospital Heidelberg,German Cancer Research Centre4 aut
700	1	a Wefers, Annika K.u University Medical Center Hamburg-Eppendorf4 aut
700	1	a Roncaroli, Federicou University of Manchester4 aut
700	1	a Avula, Shivaramu Alder Hey Children’s NHS Foundation Trust4 aut
700	1	a McCabe, Martin G.u University of Manchester4 aut
700	1	a Hayden, James T.u Alder Hey Children’s NHS Foundation Trust4 aut
700	1	a Wesseling, Pieteru Academic Medical Center of University of Amsterdam (AMC),Princess Maxima Center for Pediatric Oncology/Hematology4 aut
700	1	a Øra, Ingridu 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 Hospital4 aut0 (Swepub:lu)molm-ior
700	1	a Nistér, Monicau Karolinska Institutet,Karolinska Institute4 aut
700	1	a Kranendonk, Mariëtte E.G.u Princess Maxima Center for Pediatric Oncology/Hematology4 aut
700	1	a Tops, Bastiaan B.J.u Princess Maxima Center for Pediatric Oncology/Hematology4 aut
700	1	a Zapotocky, Michalu University Hospital Motol4 aut
700	1	a Zamecnik, Josefu University Hospital Motol4 aut
700	1	a Vasiljevic, Alexandreu Lyon Civil Hospital / Hospices Civils de Lyon4 aut
700	1	a Fenouil, Tanguyu Lyon Civil Hospital / Hospices Civils de Lyon4 aut
700	1	a Meyronet, Davidu Lyon Civil Hospital / Hospices Civils de Lyon4 aut
700	1	a von Hoff, Katjau Berlin Institute of Health (BIH)4 aut
700	1	a Schüller, Ulrichu University Medical Center Hamburg-Eppendorf,Research Institute Children’s Cancer Center Hamburg4 aut
700	1	a Loiseau, Huguesu University of Bordeaux4 aut
700	1	a Figarella-Branger, Dominiqueu Aix-Marseille University4 aut
700	1	a Kramm, Christof M.u University Medical Center Göttingen4 aut
700	1	a Sturm, Dominiku German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ),University Hospital Heidelberg4 aut
700	1	a Scheie, Davidu Copenhagen University Hospital4 aut
700	1	a Rauramaa, Tuomasu Kuopio University Hospital4 aut
700	1	a Pesola, Jouniu Kuopio University Hospital4 aut
700	1	a Gojo, Johannesu Medical University of Vienna4 aut
700	1	a Haberler, Christineu Medical University of Vienna4 aut
700	1	a Brandner, Sebastianu University College London,National Hospital for Neurology and Neurosurgery4 aut
700	1	a Jacques, Tomu UCL Institute of Child Health4 aut
700	1	a Sexton Oates, Alexandrau University of Melbourne4 aut
700	1	a Saffery, Richardu University of Melbourne4 aut
700	1	a Koscielniak, Ewau Klinikum Stuttgart Olgahospital4 aut
700	1	a Baker, Suzanne J.u St Jude Children´s Research Hospital, Memphis4 aut
700	1	a Yip, Stephenu University of British Columbia4 aut
700	1	a Snuderl, Matijau NYU Grossman School of Medicine4 aut
700	1	a Ud Din, Nasiru Aga Khan University, Pakistan4 aut
700	1	a Samuel, Davidu Valley Children’s Hospital4 aut
700	1	a Schramm, Kathrinu Hopp Children’s Cancer Center Heidelberg (KiTZ),German Cancer Research Centre4 aut
700	1	a Blattner-Johnson, Mirjamu German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ)4 aut
700	1	a Selt, Florianu German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ),University Hospital Heidelberg4 aut
700	1	a Ecker, Jonasu German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ),University Hospital Heidelberg4 aut
700	1	a Milde, Tillu German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ),University Hospital Heidelberg4 aut
700	1	a von Deimling, Andreasu University Hospital Heidelberg,German Cancer Research Centre4 aut
700	1	a Korshunov, Andreyu Hopp Children’s Cancer Center Heidelberg (KiTZ),German Cancer Research Centre,University Hospital Heidelberg4 aut
700	1	a Perry, Arieu University of California, San Francisco4 aut
700	1	a Pfister, Stefan Mu German Cancer Research Centre,University Hospital Heidelberg,Hopp Children’s Cancer Center Heidelberg (KiTZ)4 aut
700	1	a Sahm, Felixu German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ),University Hospital Heidelberg4 aut
700	1	a Solomon, David A.u University of California, San Francisco4 aut
700	1	a Jones, David T Wu German Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ)4 aut
710	2	a German Cancer Research Centreb Hopp Children’s Cancer Center Heidelberg (KiTZ)4 org
773	0	t Acta Neuropathologicad : Springer Science and Business Media LLCg 145:1, s. 49-69q 145:1<49-69x 0001-6322x 1432-0533
856	4	u http://dx.doi.org/10.1007/s00401-022-02516-2x freey FULLTEXT
856	4 8	u https://lup.lub.lu.se/record/18126edf-6718-4009-b45d-cb3fc5e380f4
856	4 8	u https://doi.org/10.1007/s00401-022-02516-2
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:151297922

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Av författaren/redakt...: Keck, Michaela K ...; Sill, Martin; Wittmann, Andrea; Joshi, Piyush; Stichel, Damian; Beck, Pengbo; visa fler...; Okonechnikow, Ko ...; Sievers, Philipp; Wefers, Annika K ...; Roncaroli, Feder ...; Avula, Shivaram; McCabe, Martin G ...; Hayden, James T.; Wesseling, Piete ...; Øra, Ingrid; Nistér, Monica; Kranendonk, Mari ...; Tops, Bastiaan B ...; Zapotocky, Micha ...; Zamecnik, Josef; Vasiljevic, Alex ...; Fenouil, Tanguy; Meyronet, David; von Hoff, Katja; Schüller, Ulrich; Loiseau, Hugues; Figarella-Brange ...; Kramm, Christof ...; Sturm, Dominik; Scheie, David; Rauramaa, Tuomas; Pesola, Jouni; Gojo, Johannes; Haberler, Christ ...; Brandner, Sebast ...; Jacques, Tom; Sexton Oates, Al ...; Saffery, Richard; Koscielniak, Ewa; Baker, Suzanne J ...; Yip, Stephen; Snuderl, Matija; Ud Din, Nasir; Samuel, David; Schramm, Kathrin; Blattner-Johnson ...; Selt, Florian; Ecker, Jonas; Milde, Till; von Deimling, An ...; Korshunov, Andre ...; Perry, Arie; Pfister, Stefan ...; Sahm, Felix; Solomon, David A ...; Jones, David T W; visa färre...

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