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Characterization of genetic lesions in rhabdomyosarcoma using a high-density single nucleotide polymorphism array
https://doi.org/10.24517/00062685
https://doi.org/10.24517/00062685f9c2d3b9-73a6-49ec-8652-b294b6042e50
| 名前 / ファイル | ライセンス | アクション |
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ME-PR-MAEDA-D-856.pdf (1.9 MB)
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| アイテムタイプ | 学術雑誌論文 / Journal Article(1) | |||||||
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| 公開日 | 2021-06-28 | |||||||
| タイトル | ||||||||
| タイトル | Characterization of genetic lesions in rhabdomyosarcoma using a high-density single nucleotide polymorphism array | |||||||
| 言語 | ||||||||
| 言語 | eng | |||||||
| 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 | |||||||
| ID登録 | ||||||||
| ID登録 | 10.24517/00062685 | |||||||
| ID登録タイプ | JaLC | |||||||
| 著者 |
Nishimura, Riki
× Nishimura, Riki× Takita, Junko× Sato-Otsubo, Aiko× Kato, Motohiro× Koh, Katsuyoshi× Hanada, Ryoji× Tanaka, Yukichi× Kato, Keisuke× Maeda, Daichi× Fukayama, Masashi× Sanada, Masashi× Hayashi, Yasuhide× Ogawa, Seishi |
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| 著者別表示 |
前田, 大地
× 前田, 大地
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| 提供者所属 | ||||||||
| 内容記述タイプ | Other | |||||||
| 内容記述 | 金沢大学医薬保健研究域医学系 | |||||||
| 書誌情報 |
Cancer Science 巻 104, 号 7, p. 856-864, 発行日 2013-04-11 |
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| ISSN | ||||||||
| 収録物識別子タイプ | ISSN | |||||||
| 収録物識別子 | 1347-9032 | |||||||
| ISSN | ||||||||
| 収録物識別子タイプ | ISSN | |||||||
| 収録物識別子 | 1349-7006 | |||||||
| NCID | ||||||||
| 収録物識別子タイプ | NCID | |||||||
| 収録物識別子 | AA11808050 | |||||||
| DOI | ||||||||
| 関連タイプ | isIdenticalTo | |||||||
| 識別子タイプ | DOI | |||||||
| 関連識別子 | 10.1111/cas.12173 | |||||||
| 出版者 | ||||||||
| 出版者 | Japanese Cancer Association 日本癌学会 / Wiley Open Access | |||||||
| 抄録 | ||||||||
| 内容記述タイプ | Abstract | |||||||
| 内容記述 | Rhabdomyosarcoma (RMS) is a common solid tumor in childhood divided into two histological subtypes, embryonal (ERMS) and alveolar (ARMS). The ARMS subtype shows aggressive clinical behavior with poor prognosis, while the ERMS subtype has a more favorable outcome. Because of the rarity, diagnostic diversity and heterogeneity of this tumor, its etiology remains to be completely elucidated. Thus, to identify genetic alterations associated with RMS development, we performed single nucleotide polymorphism array analyses of 55 RMS samples including eight RMS-derived cell lines. The ERMS subtype was characterized by hyperploidy, significantly associated with gains of chromosomes 2, 8 and 12, whereas the majority of ARMS cases exhibited near-diploid copy number profiles. Loss of heterozygosity of 15q was detected in 45.5% of ARMS that had been unrecognized in RMS to date. Novel amplifications were also detected, including IRS2 locus in two fusion-positive tumors, and KRAS or NRAS loci in three ERMS cases. Of note, gain of 13q was significantly associated with good patient outcome in ERMS. We also identified possible application of an ALK inhibitor to RMS, as ALK amplification and frequent expression of ALK were detected in our RMS cohort. These findings enhance our understanding of the genetic mechanisms underlying RMS pathogenesis and support further studies for therapeutic development of RMS. © 2013 Japanese Cancer Association. | |||||||
| 権利 | ||||||||
| 権利情報 | Copyright © 2013 Japanese Cancer Association 日本癌学会 / Wiley Open Access | |||||||
| 著者版フラグ | ||||||||
| 出版タイプ | VoR | |||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||
| 関連URI | ||||||||
| 識別子タイプ | URI | |||||||
| 関連識別子 | http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1349-7006/ | |||||||
| 関連名称 | http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1349-7006/ | |||||||
| 関連URI | ||||||||
| 識別子タイプ | URI | |||||||
| 関連識別子 | https://onlinelibrary.wiley.com/doi/10.1111/cas.12173 | |||||||
| 関連名称 | https://onlinelibrary.wiley.com/doi/10.1111/cas.12173 | |||||||
