TY  - JOUR
AU  - Koelsche, Christian
AU  - Mynarek, Martin
AU  - Schrimpf, Daniel
AU  - Bertero, Luca
AU  - Serrano, Jonathan
AU  - Sahm, Felix
AU  - Reuss, David E
AU  - Hou, Yanghao
AU  - Baumhoer, Daniel
AU  - Vokuhl, Christian
AU  - Flucke, Uta
AU  - Petersen, Iver
AU  - Brück, Wolfgang
AU  - Rutkowski, Stefan
AU  - Zambrano, Sandro Casavilca
AU  - Garcia Leon, Juan Luis
AU  - Diaz Coronado, Rosdali Yesenia
AU  - Gessler, Manfred
AU  - Tirado, Oscar M
AU  - Mora, Jaume
AU  - Alonso, Javier
AU  - Garcia Del Muro, Xavier
AU  - Esteller, Manel
AU  - Sturm, Dominik
AU  - Ecker, Jonas
AU  - Milde, Till
AU  - Pfister, Stefan
AU  - Korshunov, Andrey
AU  - Snuderl, Matija
AU  - Mechtersheimer, Gunhild
AU  - Schüller, Ulrich
AU  - Jones, David
AU  - von Deimling, Andreas
TI  - Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations.
JO  - Acta neuropathologica
VL  - 136
IS  - 2
SN  - 1432-0533
CY  - Berlin
PB  - Springer
M1  - DKFZ-2018-01183
SP  - 327 - 337
PY  - 2018
AB  - Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine rhabdomyosarcomas sharing identical features were identified. Gene panel sequencing of the 22 intracranial sarcomas revealed the almost unifying feature of DICER1 hotspot mutations (21/22; 95
LB  - PUB:(DE-HGF)16
C6  - pmid:29881993
DO  - DOI:10.1007/s00401-018-1871-6
UR  - https://inrepo02.dkfz.de/record/136745
ER  -