en
Scientific article
Open access
English

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

ContributorsSturm, Dominikorcid; Orr, Brent A; Toprak, Umut H; Hovestadt, Volkerorcid; Jones, David T W; Capper, Davidorcid; Sill, Martinorcid; Buchhalter, Ivoorcid; Northcott, Paul A; Leis, Irina; Ryzhova, Marinaorcid; Koelsche, Christian; Pfaff, Elke; Allen, Sariah J; Balasubramanian, Gnanaprakash; Worst, Barbara C; Pajtler, Kristian Worcid; Brabetz, Sebastian; Johann, Pascal D; Sahm, Felixorcid; Reimand, Jüri; Mackay, Alan; Carvalho, Diana M; Remke, Marcorcid; Phillips, Joanna J; Perry, Arie; Cowdrey, Cynthia; Drissi, Rachid; Fouladi, Maryam; Giangaspero, Feliceorcid; Łastowska, Maria; Grajkowska, Wiesława; Scheurlen, Wolfram; Pietsch, Torsten; Hagel, Christian; Gojo, Johannes; Lötsch, Daniela; Berger, Walterorcid; Slavc, Irene; Haberler, Christine; Jouvet, Anne; Holm, Stefan; Hofer, Silvia; Prinz, Marco; Keohane, Catherine; Fried, Iris; Mawrin, Christian; Scheie, David; Mobley, Bret C; Schniederjan, Matthew J; Santi, Mariarita; Buccoliero, Anna M; Dahiya, Sonika; Kramm, Christof M; Von Bueren, Andréorcid; von Hoff, Katja; Rutkowski, Stefan; Herold-Mende, Christel; Frühwald, Michael C; Milde, Tillorcid; Hasselblatt, Martinorcid; Wesseling, Pieterorcid; Rößler, Jochen; Schüller, Ulrich; Ebinger, Martinorcid; Schittenhelm, Jens; Frank, Stephan; Grobholz, Rainerorcid; Vajtai, Istvan; Hans, Volkmar; Schneppenheim, Reinhard; Zitterbart, Karel; Collins, V Peter; Aronica, Eleonoraorcid; Varlet, Pascaleorcid; Puget, Stephanie; Dufour, Christelle; Grill, Jacques; Figarella-Branger, Dominique; Wolter, Marietta; Schuhmann, Martin U; Shalaby, Tarek; Grotzer, Michaelorcid; van Meter, Timothy; Monoranu, Camelia-Maria; Felsberg, Jörg; Reifenberger, Guido; Snuderl, Matijaorcid; Forrester, Lynn Annorcid; Koster, Janorcid; Versteeg, Rogierorcid; Volckmann, Richard; van Sluis, Peter; Wolf, Stephan; Mikkelsen, Tom; Gajjar, Amar; Aldape, Kenneth; Moore, Andrew Sorcid; Taylor, Michael Dorcid; Jones, Chris; Jabado, Nada; Karajannis, Matthias A; Eils, Roland; Schlesner, Matthias; Lichter, Peter; von Deimling, Andreas; Pfister, Stefan M; Ellison, David W; Korshunov, Andrey; Kool, Marcel
Published inCell, vol. 164, no. 5, p. 1060-1072
Publication date2016-02-25
Abstract

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.

eng
Keywords
  • Amino Acid Sequence
  • Central Nervous System Neoplasms / classification
  • Central Nervous System Neoplasms / diagnosis
  • Central Nervous System Neoplasms / genetics
  • Central Nervous System Neoplasms / pathology
  • Child
  • DNA Methylation
  • Forkhead Transcription Factors / genetics
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Molecular Sequence Data
  • Neuroectodermal Tumors / classification
  • Neuroectodermal Tumors / diagnosis
  • Neuroectodermal Tumors / genetics
  • Neuroectodermal Tumors / pathology
  • Proto-Oncogene Proteins / chemistry
  • Proto-Oncogene Proteins / genetics
  • Repressor Proteins / chemistry
  • Repressor Proteins / genetics
  • Signal Transduction
  • Trans-Activators
  • Tumor Suppressor Proteins / genetics
Affiliation Not a UNIGE publication
Citation (ISO format)
STURM, Dominik et al. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. In: Cell, 2016, vol. 164, n° 5, p. 1060–1072. doi: 10.1016/j.cell.2016.01.015
Main files (2)
Article (Accepted version)
accessLevelPublic
Article (Published version)
accessLevelRestricted
Secondary files (1)
Identifiers
ISSN of the journal0092-8674
129views
73downloads

Technical informations

Creation12/10/2021 5:50:00 PM
First validation12/10/2021 5:50:00 PM
Update time03/16/2023 2:06:21 AM
Status update03/16/2023 2:06:12 AM
Last indexation02/12/2024 12:16:38 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack