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000143592 1001_ $$aHou, Yanghao$$b0
000143592 245__ $$aPapillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA.
000143592 260__ $$aHeidelberg$$bSpringer$$c2019
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000143592 520__ $$aPapillary glioneuronal tumor (PGNT) is a WHO-defined brain tumor entity that poses a major diagnostic challenge. Recently, SLC44A1-PRKCA fusions have been described in PGNT. We subjected 28 brain tumors from different institutions histologically diagnosed as PGNT to molecular and morphological analysis. Array-based methylation analysis revealed that 17/28 tumors exhibited methylation profiles typical for other tumor entities, mostly dysembryoplastic neuroepithelial tumor and hemispheric pilocytic astrocytoma. Conversely, 11/28 tumors exhibited a unique profile, thus constituting a distinct methylation class PGNT. By screening the extended Heidelberg cohort containing over 25,000 CNS tumors, we identified three additional tumors belonging to this methylation cluster but originally histologically diagnosed otherwise. RNA sequencing for the detection of SLC44A1-PRKCA fusions could be performed on 19 of the tumors, 10 of them belonging to the methylation class PGNT. In two additional cases, SLC44A1-PRKCA fusions were confirmed by FISH. We detected fusions involving PRKCA in all cases of this methylation class with material available for analyses: the canonical SLC44A1-PRKCA fusion was observed in 11/12 tumors, while the remaining case exhibited a NOTCH1-PRKCA fusion. Neither of the fusions was found in the tumors belonging to other methylation classes. Our results point towards a high misclassification rate of the morphological diagnosis PGNT and clearly demonstrate the necessity of molecular analyses. PRKCA fusions are highly diagnostic for PGNT, and detection by RNA sequencing enables the identification of rare fusion partners. Methylation analysis recognizes a unique methylation class PGNT irrespective of the nature of the PRKCA fusion.
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000143592 7001_ $$aPinheiro, Jorge$$b1
000143592 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b2
000143592 7001_ $$0P:(DE-HGF)0$$aReuss, David E$$b3
000143592 7001_ $$0P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aSchrimpf, Daniel$$b4
000143592 7001_ $$0P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17$$aStichel, Damian$$b5
000143592 7001_ $$0P:(DE-HGF)0$$aCasalini, Belén$$b6
000143592 7001_ $$aKoelsche, Christian$$b7
000143592 7001_ $$0P:(DE-HGF)0$$aSievers, Philipp$$b8
000143592 7001_ $$0P:(DE-HGF)0$$aWefers, Annika K$$b9
000143592 7001_ $$0P:(DE-HGF)0$$aReinhardt, Annekathrin$$b10
000143592 7001_ $$0P:(DE-HGF)0$$aEbrahimi, Azadeh$$b11
000143592 7001_ $$0P:(DE-HGF)0$$aFernández-Klett, Francisco$$b12
000143592 7001_ $$0P:(DE-He78)f2efee17b6ca2f790176a2c036912536$$aPusch, Stefan$$b13
000143592 7001_ $$aMeier, Jochen$$b14
000143592 7001_ $$0P:(DE-HGF)0$$aSchweizer, Leonille$$b15
000143592 7001_ $$aPaulus, Werner$$b16
000143592 7001_ $$aPrinz, Marco$$b17
000143592 7001_ $$aHartmann, Christian$$b18
000143592 7001_ $$0P:(DE-HGF)0$$aPlate, Karl H$$b19
000143592 7001_ $$aReifenberger, Guido$$b20
000143592 7001_ $$aPietsch, Torsten$$b21
000143592 7001_ $$aVarlet, Pascale$$b22
000143592 7001_ $$aPagès, Mélanie$$b23
000143592 7001_ $$aSchüller, Ulrich$$b24
000143592 7001_ $$aScheie, David$$b25
000143592 7001_ $$ade Stricker, Karin$$b26
000143592 7001_ $$aFrank, Stephan$$b27
000143592 7001_ $$aHench, Jürgen$$b28
000143592 7001_ $$aPollo, Bianca$$b29
000143592 7001_ $$aBrandner, Sebastian$$b30
000143592 7001_ $$aUnterberg, Andreas$$b31
000143592 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b32
000143592 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b33
000143592 7001_ $$0P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93$$aKorshunov, Andrey$$b34
000143592 7001_ $$0P:(DE-He78)92e9783ca7025f36ce14e12cd348d2ee$$aWick, Wolfgang$$b35
000143592 7001_ $$0P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c$$aCapper, David$$b36
000143592 7001_ $$aBlümcke, Ingmar$$b37
000143592 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b38$$eLast author
000143592 7001_ $$aBertero, Luca$$b39
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