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000144145 1001_ $$0P:(DE-HGF)0$$aSievers, Philipp$$b0$$eFirst author
000144145 245__ $$aRosette-forming glioneuronal tumors share a distinct DNA methylation profile and mutations in FGFR1, with recurrent co-mutation of PIK3CA and NF1.
000144145 260__ $$aHeidelberg$$bSpringer$$c2019
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000144145 520__ $$aRosette-forming glioneuronal tumor (RGNT) is a rare brain neoplasm that primarily affects young adults. Although alterations affecting the mitogen-activated protein kinase (MAPK) and phosphoinositide 3-kinase (PI3K) signaling pathway have been associated with this low-grade entity, comprehensive molecular investigations of RGNT in larger series have not been performed to date, and an integrated view of their genetic and epigenetic profiles is still lacking. Here we describe a genome-wide DNA methylation and targeted sequencing-based characterization of a molecularly distinct class of tumors (n = 30), initially identified through genome-wide DNA methylation screening among a cohort of > 30,000 tumors, of which most were diagnosed histologically as RGNT. FGFR1 hotspot mutations were observed in all tumors analyzed, with co-occurrence of PIK3CA mutations in about two-thirds of the cases (63%). Additional loss-of-function mutations in the tumor suppressor gene NF1 were detected in a subset of cases (33%). Notably, in contrast to most other low-grade gliomas, these tumors often displayed co-occurrence of two or even all three of these mutations. Our data highlight that molecularly defined RGNTs are characterized by highly recurrent combined genetic alterations affecting both MAPK and PI3K signaling pathways. Thus, these two pathways appear to synergistically interact in the formation of RGNT, and offer potential therapeutic targets for this disease.
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000144145 7001_ $$aAppay, Romain$$b1
000144145 7001_ $$0P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aSchrimpf, Daniel$$b2$$udkfz
000144145 7001_ $$0P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17$$aStichel, Damian$$b3$$udkfz
000144145 7001_ $$0P:(DE-HGF)0$$aReuss, David E$$b4
000144145 7001_ $$0P:(DE-HGF)0$$aWefers, Annika K$$b5
000144145 7001_ $$0P:(DE-HGF)0$$aReinhardt, Annekathrin$$b6
000144145 7001_ $$aCoras, Roland$$b7
000144145 7001_ $$aRuf, Viktoria C$$b8
000144145 7001_ $$aSchmid, Simone$$b9
000144145 7001_ $$ade Stricker, Karin$$b10
000144145 7001_ $$aBoldt, Henning B$$b11
000144145 7001_ $$aKristensen, Bjarne Winther$$b12
000144145 7001_ $$aPetersen, Jeanette Krogh$$b13
000144145 7001_ $$aUlhøi, Benedicte P$$b14
000144145 7001_ $$aGardberg, Maria$$b15
000144145 7001_ $$aAronica, Eleonora$$b16
000144145 7001_ $$aHasselblatt, Martin$$b17
000144145 7001_ $$aBrück, Wolfgang$$b18
000144145 7001_ $$aBielle, Franck$$b19
000144145 7001_ $$aMokhtari, Karima$$b20
000144145 7001_ $$aLhermitte, Benoît$$b21
000144145 7001_ $$0P:(DE-He78)92e9783ca7025f36ce14e12cd348d2ee$$aWick, Wolfgang$$b22$$udkfz
000144145 7001_ $$aHerold-Mende, Christel$$b23
000144145 7001_ $$aHänggi, Daniel$$b24
000144145 7001_ $$aBrandner, Sebastian$$b25
000144145 7001_ $$aGiangaspero, Felice$$b26
000144145 7001_ $$aCapper, David$$b27
000144145 7001_ $$aRushing, Elisabeth$$b28
000144145 7001_ $$aWesseling, Pieter$$b29
000144145 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b30$$udkfz
000144145 7001_ $$aFigarella-Branger, Dominique$$b31
000144145 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b32$$udkfz
000144145 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b33$$udkfz
000144145 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b34$$eLast author$$udkfz
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