New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
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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.
Original language | English |
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Journal | Cell |
Volume | 164 |
Issue number | 5 |
Pages (from-to) | 1060-72 |
Number of pages | 13 |
ISSN | 0092-8674 |
DOIs | |
Publication status | Published - 2016 |
- Amino Acid Sequence, Central Nervous System Neoplasms, Child, DNA Methylation, Forkhead Transcription Factors, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Humans, Molecular Sequence Data, Neuroectodermal Tumors, Proto-Oncogene Proteins, Repressor Proteins, Signal Transduction, Tumor Suppressor Proteins, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't
Research areas
ID: 176337014