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000274463 245__ $$aPediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature.
000274463 260__ $$a[London]$$bSpringer Nature$$c2023
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000274463 520__ $$aPediatric neoplasms in the central nervous system (CNS) show extensive clinical and molecular heterogeneity and are fundamentally different from those occurring in adults. Molecular genetic testing contributes to accurate diagnosis and enables an optimal clinical management of affected children. Here, we investigated a rare, molecularly distinct type of pediatric high-grade neuroepithelial tumor (n = 18), that was identified through unsupervised visualization of genome-wide DNA methylation array data, together with copy number profiling, targeted next-generation DNA sequencing, and RNA transcriptome sequencing. DNA and/or RNA sequencing revealed recurrent fusions involving the capicua transcriptional repressor (CIC) gene in 10/10 tumor samples analyzed, with the most common fusion being CIC::LEUTX (n = 9). In addition, a CIC::NUTM1 fusion was detected in one of the tumors. Apart from the detected fusion events, no additional oncogenic alteration was identified in these tumors. The histopathological review demonstrated a morphologically heterogeneous group of high-grade neuroepithelial tumors with positive immunostaining for markers of glial differentiation in combination with weak and focal expression of synaptophysin, CD56 and CD99. All tumors were located in the supratentorial compartment, occurred during childhood (median age 8.5 years) and typically showed early relapses. In summary, we expand the spectrum of pediatric-type tumors of the CNS by reporting a previously uncharacterized group of rare high-grade neuroepithelial tumors that share a common DNA methylation signature and recurrent gene fusions involving the transcriptional repressor CIC. Downstream functional consequences of the fusion protein CIC::LEUTX and potential therapeutic implications need to be further investigated.
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000274463 7001_ $$0P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b$$aSill, Martin$$b1$$udkfz
000274463 7001_ $$0P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aSchrimpf, Daniel$$b2$$udkfz
000274463 7001_ $$aAbdullaev, Zied$$b3
000274463 7001_ $$aDonson, Andrew M$$b4
000274463 7001_ $$aLake, Jessica A$$b5
000274463 7001_ $$0P:(DE-He78)263d95a5b6ba4abce7abee7185b9630e$$aFriedel, Dennis$$b6$$udkfz
000274463 7001_ $$aScheie, David$$b7
000274463 7001_ $$aTynninen, Olli$$b8
000274463 7001_ $$aRauramaa, Tuomas$$b9
000274463 7001_ $$aVepsäläinen, Kaisa L$$b10
000274463 7001_ $$00000-0001-6850-4932$$aSamuel, David$$b11
000274463 7001_ $$aChapman, Rebecca$$b12
000274463 7001_ $$aGrundy, Richard G$$b13
000274463 7001_ $$0P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d$$aPajtler, Kristian W$$b14$$udkfz
000274463 7001_ $$aTauziède-Espariat, Arnault$$b15
000274463 7001_ $$aMétais, Alice$$b16
000274463 7001_ $$aVarlet, Pascale$$b17
000274463 7001_ $$aSnuderl, Matija$$b18
000274463 7001_ $$aJacques, Thomas S$$b19
000274463 7001_ $$aAldape, Kenneth$$b20
000274463 7001_ $$0P:(DE-HGF)0$$aReuss, David E$$b21
000274463 7001_ $$0P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93$$aKorshunov, Andrey$$b22$$udkfz
000274463 7001_ $$0P:(DE-He78)92e9783ca7025f36ce14e12cd348d2ee$$aWick, Wolfgang$$b23$$udkfz
000274463 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b24$$udkfz
000274463 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b25$$udkfz
000274463 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b26$$eLast author$$udkfz
000274463 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b27$$eLast author$$udkfz
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