%0 Journal Article
%A Koelsche, Christian
%A Mynarek, Martin
%A Schrimpf, Daniel
%A Bertero, Luca
%A Serrano, Jonathan
%A Sahm, Felix
%A Reuss, David E
%A Hou, Yanghao
%A Baumhoer, Daniel
%A Vokuhl, Christian
%A Flucke, Uta
%A Petersen, Iver
%A Brück, Wolfgang
%A Rutkowski, Stefan
%A Zambrano, Sandro Casavilca
%A Garcia Leon, Juan Luis
%A Diaz Coronado, Rosdali Yesenia
%A Gessler, Manfred
%A Tirado, Oscar M
%A Mora, Jaume
%A Alonso, Javier
%A Garcia Del Muro, Xavier
%A Esteller, Manel
%A Sturm, Dominik
%A Ecker, Jonas
%A Milde, Till
%A Pfister, Stefan
%A Korshunov, Andrey
%A Snuderl, Matija
%A Mechtersheimer, Gunhild
%A Schüller, Ulrich
%A Jones, David
%A von Deimling, Andreas
%T Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations.
%J Acta neuropathologica
%V 136
%N 2
%@ 1432-0533
%C Berlin
%I Springer
%M DKFZ-2018-01183
%P 327 - 337
%D 2018
%X 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
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:29881993
%R 10.1007/s00401-018-1871-6
%U https://inrepo02.dkfz.de/record/136745