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

authors

  • Sturm Dominik
  • A.Orr Brent
  • H.Toprak Umut
  • Hovestadt Volker
  • Jones David T. W.
  • Capper David
  • Sill Martin
  • Buchhalter Ivo
  • A.Northcott Paul
  • Leis Irina
  • Ryzhova Marina
  • Koelsche Christian
  • Pfaff Elke
  • J.Allen Sariah
  • Balasubramanian Gnanaprakash
  • C. Worst Barbara
  • W. Pajtler Kristian
  • Brabetz Sebastian
  • D. Johann Pascal
  • Sahm Felix
  • Reimand Jüri
  • Mackay Alan
  • M. Carvalho Diana
  • Remke Marc
  • J. Phillips Joanna
  • Perry Arie
  • Cowdrey Cynthia
  • Drissi Rachid
  • Fouladi Maryam
  • Giangaspero Felice
  • Łastowska Maria
  • Grajkowska Wiesława
  • Scheurlen Wolfram
  • Pietsch Torsten
  • Hagel Christian
  • Gojo Johannes
  • Lötsch Daniela
  • Berger Walter
  • Slavc Irene
  • Haberler Christine
  • Jouvet Anne
  • Holm Stefan
  • Hofer Silvia
  • Prinz Marco
  • Keohane Catherine
  • Fried Iris
  • Mawrin Christian
  • Scheie David
  • C. Mobley Bret
  • J.Schniederjan Matthew
  • Santi Mariarita
  • M. Buccoliero Anna
  • Dahiya Sonika
  • M. Kramm Christof
  • O. von Bueren André
  • von Hoff Katja
  • Rutkowski Stefan
  • Herold-Mende Christel
  • C. Frühwald Michael
  • Milde Till
  • Hasselblatt Martin
  • Wesseling Pieter
  • Rößler Jochen
  • Schüller Ulrich
  • Ebinger Martin
  • Schittenhelm Jens
  • Frank Stephan
  • Grobholz Rainer
  • Vajtai Istvan
  • Hans Volkmar
  • Schneppenheim Reinhard
  • Zitterbart Karel
  • V. Collins Peter
  • Aronica Eleonora
  • Varlet Pascale
  • Grill Jacques
  • Puget Stephanie
  • Dufour Christelle
  • Figarella-Branger Dominique
  • Wolter Marietta
  • U. Schuhmann Martin
  • Shalaby Tarek
  • Grotzer Michael
  • van Meter Timothy
  • Monoranu Camelia-Maria
  • Felsberg Jörg
  • Reifenberger Guido
  • Snuder Matija
  • Forrester Lynn Ann
  • Koster Jan
  • Versteeg Rogier
  • Volckmann Richard
  • van Sluis Peter
  • Wolf Stephan
  • Mikkelsen Tom
  • Gajjar Amar
  • Aldape Kenneth
  • S. Moore Andrew
  • Taylor Michael D.
  • Jones Chris
  • Jabado Nada
  • A. Karajannis Matthias
  • Eils Roland
  • Schlesner Matthias
  • Lichter Peter
  • von Deimling Andreas
  • M. Pfister Stefan
  • W. Ellison David
  • Korshunov Andrey
  • Kool Marcel

keywords

  • Tumor
  • DNA Methylation
  • CNS-PNETs

document type

ART

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.

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