TY  - JOUR
AU  - Sievers, Philipp
AU  - Appay, Romain
AU  - Schrimpf, Daniel
AU  - Stichel, Damian
AU  - Reuss, David E
AU  - Wefers, Annika K
AU  - Reinhardt, Annekathrin
AU  - Coras, Roland
AU  - Ruf, Viktoria C
AU  - Schmid, Simone
AU  - de Stricker, Karin
AU  - Boldt, Henning B
AU  - Kristensen, Bjarne Winther
AU  - Petersen, Jeanette Krogh
AU  - Ulhøi, Benedicte P
AU  - Gardberg, Maria
AU  - Aronica, Eleonora
AU  - Hasselblatt, Martin
AU  - Brück, Wolfgang
AU  - Bielle, Franck
AU  - Mokhtari, Karima
AU  - Lhermitte, Benoît
AU  - Wick, Wolfgang
AU  - Herold-Mende, Christel
AU  - Hänggi, Daniel
AU  - Brandner, Sebastian
AU  - Giangaspero, Felice
AU  - Capper, David
AU  - Rushing, Elisabeth
AU  - Wesseling, Pieter
AU  - Pfister, Stefan M
AU  - Figarella-Branger, Dominique
AU  - von Deimling, Andreas
AU  - Sahm, Felix
AU  - Jones, David
TI  - Rosette-forming glioneuronal tumors share a distinct DNA methylation profile and mutations in FGFR1, with recurrent co-mutation of PIK3CA and NF1.
JO  - Acta neuropathologica
VL  - 138
IS  - 3
SN  - 1432-0533
CY  - Heidelberg
PB  - Springer
M1  - DKFZ-2019-01694
SP  - 497-504
PY  - 2019
AB  - 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
LB  - PUB:(DE-HGF)16
C6  - pmid:31250151
DO  - DOI:10.1007/s00401-019-02038-4
UR  - https://inrepo02.dkfz.de/record/144145
ER  -