%0 Journal Article
%A Sievers, Philipp
%A Appay, Romain
%A Schrimpf, Daniel
%A Stichel, Damian
%A Reuss, David E
%A Wefers, Annika K
%A Reinhardt, Annekathrin
%A Coras, Roland
%A Ruf, Viktoria C
%A Schmid, Simone
%A de Stricker, Karin
%A Boldt, Henning B
%A Kristensen, Bjarne Winther
%A Petersen, Jeanette Krogh
%A Ulhøi, Benedicte P
%A Gardberg, Maria
%A Aronica, Eleonora
%A Hasselblatt, Martin
%A Brück, Wolfgang
%A Bielle, Franck
%A Mokhtari, Karima
%A Lhermitte, Benoît
%A Wick, Wolfgang
%A Herold-Mende, Christel
%A Hänggi, Daniel
%A Brandner, Sebastian
%A Giangaspero, Felice
%A Capper, David
%A Rushing, Elisabeth
%A Wesseling, Pieter
%A Pfister, Stefan M
%A Figarella-Branger, Dominique
%A von Deimling, Andreas
%A Sahm, Felix
%A Jones, David
%T Rosette-forming glioneuronal tumors share a distinct DNA methylation profile and mutations in FGFR1, with recurrent co-mutation of PIK3CA and NF1.
%J Acta neuropathologica
%V 138
%N 3
%@ 1432-0533
%C Heidelberg
%I Springer
%M DKFZ-2019-01694
%P 497-504
%D 2019
%X Rosette-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
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:31250151
%R 10.1007/s00401-019-02038-4
%U https://inrepo02.dkfz.de/record/144145