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.
- MeSH
- dítě MeSH
- forkhead transkripční faktory genetika MeSH
- lidé MeSH
- metylace DNA * MeSH
- molekulární sekvence - údaje MeSH
- nádorové supresorové proteiny genetika MeSH
- nádory centrálního nervového systému klasifikace diagnóza genetika patologie MeSH
- neuroektodermové nádory klasifikace diagnóza genetika patologie MeSH
- protoonkogenní proteiny chemie genetika MeSH
- regulace genové exprese u nádorů MeSH
- represorové proteiny chemie genetika MeSH
- sekvence aminokyselin MeSH
- signální transdukce MeSH
- stanovení celkové genové exprese MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
