New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

By D. Sturm, B. Orr, U. Toprak, V. Hovestadt, David T. W. Jones, David Capper, M. Sill, I. Buchhalter, P. Northcott, Irina Leis and 100 more. Cell, 2016

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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.

Subfields: Genetics, Neurology, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/b9de33a03362e6cbd955a2d0fdf459d678967823

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