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Detection of MEAF6-PHF1 translocation in an endometrial stromal nodule
https://doi.org/10.24517/00062688
https://doi.org/10.24517/000626882557dad2-f3eb-41f1-a3bc-80d2565f7f7c
名前 / ファイル | ライセンス | アクション |
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Item type | 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 | Detection of MEAF6-PHF1 translocation in an endometrial stromal nodule | |||||
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 | 10.24517/00062688 | |||||
ID登録タイプ | JaLC | |||||
著者 |
Nomura, Yusuke
× Nomura, Yusuke× Tamura, Daisuke× Horie, Masafumi× Sato, Masakazu× Sasaki, Shinya× Yamamoto, Yohei× Kudo-Asabe, Yukitsugu× Umakoshi, Michinobu× Koyama, Kei× Makino, Kenichi× Takashima, Shinogu× Imai, Kazuhiro× Minamiya, Yoshihiro× Munakata, Satoru× Yachida, Shinichi× Terada, Yukihiro× Goto, Akiteru× Maeda, Daichi |
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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 |
Genes Chromosomes and Cancer 巻 59, 号 12, p. 702-708, 発行日 2020-05-31 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1045-2257 | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1098-2264 | |||||
NCID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA11620217 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1002/gcc.22892 | |||||
出版者 | ||||||
出版者 | Wiley | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Endometrial stromal nodule (ESN) and low-grade endometrial stromal sarcoma (LG-ESS) are rare uterine tumors known as endometrial stromal tumors (ESTs). In addition to their similarity in morphological features, recent studies have shown that these two tumors share common genetic alterations. In particular, JAZF1-SUZ12 fusion is found with high frequency in both ESN and LG-ESS. In LG-ESS, some minor fusions have also been described, which include rearrangements involving PHF1 and its partner genes, such as JAZF1, EPC1, MEAF6, BRD8, EPC2, and MBTD1. Because of the rarity of ESN, genetic alterations other than JAZF1 fusion have not been investigated in detail. In this study, we performed a next-generation sequencing-based analysis in a case of ESN with peripheral metaplastic bone formation and detected MEAF6-PHF1 fusion, which has been reported in a small subset of uterine LG-ESSs and soft tissue ossifying fibromyxoid tumors. The finding that MEAF6-PHF1 fusion is a background genetic abnormality detected both in ESN and LG-ESS, along with JAZF1-SUZ12, provides further support for the similarity and continuum between these two types of ESTs. Furthermore, the association between metaplastic bone formation and MEAF6-PHF1 fusion may not be limited to soft tissue tumors. © 2020 Wiley Periodicals LLC | |||||
権利 | ||||||
権利情報 | Copyright © 2020 Wiley Periodicals LLC | |||||
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/10.1002/(ISSN)1098-2264 | |||||
関連名称 | http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-2264 | |||||
関連URI | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://onlinelibrary.wiley.com/doi/10.1002/gcc.22892 | |||||
関連名称 | https://onlinelibrary.wiley.com/doi/10.1002/gcc.22892 |