TY  - JOUR
AU  - Thomas, Christian
AU  - Soschinski, Patrick
AU  - Zwaig, Melissa
AU  - Oikonomopoulos, Spyridon
AU  - Okonechnikov, Konstantin
AU  - Pajtler, Kristian
AU  - Sill, Martin
AU  - Schweizer, Leonille
AU  - Koch, Arend
AU  - Neumann, Julia
AU  - Schüller, Ulrich
AU  - Sahm, Felix
AU  - Rauschenbach, Laurèl
AU  - Keyvani, Kathy
AU  - Proescholdt, Martin
AU  - Riemenschneider, Markus J
AU  - Segewiß, Jochen
AU  - Ruckert, Christian
AU  - Grauer, Oliver
AU  - Monoranu, Camelia-Maria
AU  - Lamszus, Katrin
AU  - Patrizi, Annarita
AU  - Kordes, Uwe
AU  - Siebert, Reiner
AU  - Kool, Marcel
AU  - Ragoussis, Jiannis
AU  - Foulkes, William D
AU  - Paulus, Werner
AU  - Rivera, Barbara
AU  - Hasselblatt, Martin
TI  - The genetic landscape of choroid plexus tumors in children and adults.
JO  - Neuro-Oncology
VL  - 23
IS  - 4
SN  - 1523-5866
CY  - Oxford
PB  - Oxford Univ. Press
M1  - DKFZ-2020-02574
SP  - 650-660
PY  - 2021
N1  - 2021 Apr 12;23(4):650-660
AB  - Choroid plexus tumors (CPTs) are intraventricular brain tumors predominantly arising in children but also affecting adults. In most cases, driver mutations have not been identified, although there are reports of frequent chromosome-wide copy-number alterations and TP53 mutations, especially in choroid plexus carcinomas (CPCs).DNA methylation profiling and RNA-sequencing was performed in a series of 47 CPTs. Samples comprised 35 choroid plexus papillomas (CPPs), 6 atypical choroid plexus papillomas (aCPPs) and 6 CPCs plus three recurrences thereof. Targeted TP53 and TERT promotor sequencing was performed in all samples. Whole exome sequencing (WES) and linked-read whole genome sequencing (WGS) was performed in 25 and 4 samples, respectively.Tumors comprised the molecular subgroups 'pediatric A' (N=11), 'pediatric B' (N=12) and 'adult' (N=27). Copy-number alterations mainly represented whole-chromosomal alterations with subgroup-specific enrichments (gains of Chr1, 2 and 21q in 'pediatric B' and gains of Chr5 and 9 and loss of Chr21q in 'adult'). RNA sequencing yielded a novel CCDC47-PRKCA fusion transcript in one adult choroid plexus papilloma patient with aggressive clinical course; an underlying Chr17 inversion was demonstrated by linked-read WGS. WES and targeted sequencing showed TP53 mutations in 7/47 CPTs (15
LB  - PUB:(DE-HGF)16
C6  - pmid:33249490
DO  - DOI:10.1093/neuonc/noaa267
UR  - https://inrepo02.dkfz.de/record/166035
ER  -