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Oligosarcomas, IDH‑mutant are distinct and aggressive
http://hdl.handle.net/10295/00005869
http://hdl.handle.net/10295/000058697a9e365c-b18f-4e65-80c6-d2a705469faf
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
iA_2021_44 (8.2 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2022-02-08 | |||||
| タイトル | ||||||
| タイトル | Oligosarcomas, IDH‑mutant are distinct and aggressive | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | Oligosarcoma | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | Oligodendroglioma | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | Gliosarcoma | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | 1p/19q | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | Codeletion | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | SMA | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | YAP1 | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | NF1 | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | TP53 | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | TERT | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | DNA methylation | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | Type | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | Subtype | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | Variant | |||||
| 主題 | ||||||
| 主題Scheme | Other | |||||
| 主題 | Prognosis | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 作成者 |
Suwala, Abigail K.
× Suwala, Abigail K.× Felix, Marius× Friedel, Dennis× Stichel, Damian× Schrimpf, Daniel× Hinz, Felix× Hewer, Ekkehard× Schweizer, Leonille× Dohmen, Hildegard× Pohl, Ute× Staszewski, Ori× Korshunov, Andrey× Stein, Marco× Wongsurawat, Thidathip× Cheunsuacchon, Pornsuk× Sathornsumetee, Sith× Koelsche, Christian× Turner, Clinton× Rhun, Emilie Le× Mühlebner, Angelika× Schucht, Philippe× Özduman, Koray× Ono, Takahiro× Shimizu, Hiroaki× Prinz, Marco× Acker, Till× Herold‑Mende, Christel× Kessler, Tobias× Wick, Wolfgang× Capper, David× Wesseling, Pieter× Sahm, Felix× von Deimling, Andreas× Hartmann, Christian× Reuss, David E. |
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| 内容記述 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Oligodendrogliomas are defined at the molecular level by the presence of an IDH mutation and codeletion of chromosomal arms 1p and 19q. In the past, case reports and small studies described gliomas with sarcomatous features arising from oligodendrogliomas, so called oligosarcomas. Here, we report a series of 24 IDH-mutant oligosarcomas from 23 patients forming a distinct methylation class. The tumors were recurrences from prior oligodendrogliomas or developed de novo. Precursor tumors of 12 oligosarcomas were histologically and molecularly indistinguishable from conventional oligodendrogliomas. Oligosarcoma tumor cells were embedded in a dense network of reticulin fibers, frequently showing p53 accumulation, positivity for SMA and CALD1, loss of OLIG2 and gain of H3K27 trimethylation (H3K27me3) as compared to primary lesions. In 5 oligosarcomas no 1p/19q codeletion was detectable, although it was present in the primary lesions. Copy number neutral LOH was determined as underlying mechanism. Oligosarcomas harbored an increased chromosomal copy number variation load with frequent CDKN2A/B deletions. Proteomic profiling demonstrated oligosarcomas to be highly distinct from conventional CNS WHO grade 3 oligodendrogliomas with consistent evidence for a smooth muscle differentiation. Expression of several tumor suppressors was reduced with NF1 being lost frequently. In contrast, oncogenic YAP1 was aberrantly overexpressed in oligosarcomas. Panel sequencing revealed mutations in NF1 and TP53 along with IDH1/2 and TERT promoter mutations. Survival of patients was significantly poorer for oligosarcomas as first recurrence than for grade 3 oligodendrogliomas as first recurrence. These results establish oligosarcomas as a distinct group of IDH-mutant gliomas differing from conventional oligodendrogliomas on the histologic, epigenetic, proteomic, molecular and clinical level. The diagnosis can be based on the combined presence of (a) sarcomatous histology, (b) IDH-mutation and (c) TERT promoter mutation and/or 1p/19q codeletion, or, in unresolved cases, on its characteristic DNA methylation profile. | |||||
| 言語 | en | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| 書誌情報 |
Acta Neuropathologica 巻 143, p. 263-281, 発行日 2022 |
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| 収録物識別子 | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 1432-0533 | |||||
| 出版者 | ||||||
| 出版者 | Springer | |||||
| 関連情報 | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1007/s00401-021-02395-z | |||||
| 権利情報 | ||||||
| 権利情報 | © The Author(s) 2021.Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. | |||||
