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Elsevier, Cell, 5(164), p. 1060-1072, 2016

DOI: 10.1016/j.cell.2016.01.015

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

Journal article published in 2016 by Dominik Sturm ORCID, Brent A. Orr, Umut H. Toprak, Brent A. Orr, Umut H. Toprak, Volker Hovestadt ORCID, David T. W. Jones, David Capper ORCID, Martin Sill, Ivo Buchhalter, Paul A. Northcott ORCID, Paul A. Northcott, Irina Leis, Marina Ryzhova, Christian Koelsche and other authors.
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This paper is available in a repository.

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Abstract

Summary 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.