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