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000170394 0247_ $$2doi$$a10.1007/s00401-021-02354-8
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000170394 0247_ $$2ISSN$$a1432-0533
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000170394 037__ $$aDKFZ-2021-01903
000170394 041__ $$aEnglish
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000170394 1001_ $$0P:(DE-HGF)0$$aAlhalabi, Karam T$$b0$$eFirst author
000170394 245__ $$aPATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum.
000170394 260__ $$aHeidelberg$$bSpringer$$c2021
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000170394 500__ $$a#EA:B360#LA:B360# / #LA:B300# /2021 Nov;142(5):841-857
000170394 520__ $$aLarge-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological spectrum, which are not possible to assign as separate entities based on histological similarity alone. Here, we describe a molecularly distinct subset of predominantly pediatric CNS neoplasms (n = 60) that harbor PATZ1 fusions. The original histological diagnoses of these tumors covered a wide spectrum of tumor types and malignancy grades. While the single most common diagnosis was glioblastoma (GBM), clinical data of the PATZ1-fused tumors showed a better prognosis than typical GBM, despite frequent relapses. RNA sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1 fusions related to (often extensive) copy number variations on chromosome 22, where PATZ1 and the two fusion partners are located. These fusions have individually been reported in a number of glial/glioneuronal tumors, as well as extracranial sarcomas. We show here that they are more common than previously acknowledged, and together define a biologically distinct CNS tumor type with high expression of neural development markers such as PAX2, GATA2 and IGF2. Drug screening performed on the MN1:PATZ1 fusion-bearing KS-1 brain tumor cell line revealed preliminary candidates for further study. In summary, PATZ1 fusions define a molecular class of histologically polyphenotypic neuroepithelial tumors, which show an intermediate prognosis under current treatment regimens.
000170394 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0
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000170394 650_7 $$2Other$$aBrain tumor
000170394 650_7 $$2Other$$aEWSR1
000170394 650_7 $$2Other$$aGene fusion
000170394 650_7 $$2Other$$aMN1
000170394 650_7 $$2Other$$aNeuroepithelial
000170394 650_7 $$2Other$$aNeurooncology
000170394 650_7 $$2Other$$aPATZ1
000170394 650_7 $$2Other$$aPediatric
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000170394 7001_ $$aPeterziel, Heike$$b3
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000170394 7001_ $$aJour, George$$b12
000170394 7001_ $$aDelorenzo, Michael$$b13
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000170394 7001_ $$aLevy, Adam$$b15
000170394 7001_ $$aDalvi, Nagma$$b16
000170394 7001_ $$aHansford, Jordan R$$b17
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000170394 7001_ $$aUro-Coste, Emmanuelle$$b19
000170394 7001_ $$aMaurage, Claude-Alain$$b20
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000170394 7001_ $$aWesseling, Pieter$$b34
000170394 7001_ $$aTops, Bastiaan B J$$b35
000170394 7001_ $$aKranendonk, Mariëtte E G$$b36
000170394 7001_ $$aKarajannis, Matthias A$$b37
000170394 7001_ $$aBouvier, Nancy$$b38
000170394 7001_ $$aPapaemmanuil, Elli$$b39
000170394 7001_ $$aDohmen, Hildegard$$b40
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