Published in
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
,
Brent A. Orr,
Umut H. Toprak,
Brent A. Orr,
Umut H. Toprak,
Volker Hovestadt ,
David T. W. Jones,
David Capper ,
Martin Sill,
Ivo Buchhalter,
Paul A. Northcott ,
Paul A. Northcott,
Irina Leis,
Marina Ryzhova,
Christian Koelsche
and other authors.
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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.