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| Home > Publications database > New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. |
| Home > Publications database > New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. |
| Journal Article | DKFZ-2017-05705 |
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2016
Cell Press
[Cambridge, Mass.]
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Please use a persistent id in citations: doi:10.1016/j.cell.2016.01.015
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.
Keyword(s): BCOR protein, human ; CIC protein, human ; FOXR2 protein, human ; Forkhead Transcription Factors ; MN1 protein, human ; Proto-Oncogene Proteins ; Repressor Proteins ; Tumor Suppressor Proteins
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