EPEN-27. Epigenetic dissection of spinal ependymomas (SP-EPN) separates tumors with and withoutNF2 mutation
| Autor: | Sina Neyazi, Erika Yamazawa, Catena Kresbach, Genta Nagae, Alicia Eckhardt, Takayoshi Umeda, Lara Pohl, Kenji Tatsuno, Ceren Saygi, Taijun Hana, Malik Alawi, Phyo Kim, Mario M Dorostkar, Fumi Higuchi, Abigail K Suwala, Toshihiro Takami, Annika Wefers, Yuta Nakanishi, Leonille Schweizer, Keisuke Takai, Lara Engertsberger, Takashi Komori, Theresa Mohme, Hirokazu Takami, Martin Mynarek, Masashi Nomura, Karin Lamszus, Akitake Mukasa, Lan Kluwe, Shunsaku Takayanagi, Andreas von Deimling, Kazuhiko Ishii, Martin Benesch, Hideaki Imai, Matija Snuderl, Stephan Frank, Koichi Ichimura, Christian Hagel, Viktor F Mautner, Stefan Rutkowski, Shota Tanaka, Hiroyuki Aburatani, Saito Nobuhito, Ulrich Schüller |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Neuro-Oncology. 24:i44-i45 |
| ISSN: | 1523-5866 1522-8517 |
| DOI: | 10.1093/neuonc/noac079.163 |
| Popis: | Ependymomas encompass multiple, clinically relevant tumor types based on localization, genetic alterations, and epigenetic and transcriptomic profiles. Tumors belonging to the methylation class of spinal ependymoma (SP-EPN) represent the most common intramedullary neoplasms in children and adults. However, molecular data of SP-EPN are scarce, and clear treatment recommendations are lacking. The only known recurrent genetic events in SP-EPN are loss of chromosome 22q and NF2 mutations. Yet, it remains unclear whether SP-EPN with germline or sporadic NF2 mutations or with NF2 wild type status differ clinically or molecularly. To provide a comprehensive molecular profile of SP-EPN, we integrated epigenetic, genomic, transcriptomic, and histological analyses of up to 237 cases. Clustering of methylation data revealed two distinct molecular SP-EPN subtypes. The distribution of NF2 mutated cases differed significantly across these subtypes (p |
| Databáze: | OpenAIRE |
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