| アイテムタイプ |
itemtype_ver1(1) |
| 公開日 |
2025-11-28 |
| タイトル |
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タイトル |
Prevalence of FOXA1 and ERBB2 activating mutations in extramammary Paget's disease: A retrospective multicenter analysis of 99 cases from Japanese and Taiwanese cohorts |
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言語 |
en |
| 著者 |
Omi, Michiya
Takeichi, Takuya
Okuno, Yusuke
Hsu, Chao-Kai
Wu, Cheng-Lin
Chang, Yi-Han
Mori, Shoichiro
Yamashita, Yuta
Miyazaki, Akira
Taira, Takaya
Yanagi, Teruki
Fukuda, Keitaro
Noda, Tatsuhiro
Suzuki, Yuika
Muro, Yoshinao
Akiyama, Masashi
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| アクセス権 |
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アクセス権 |
embargoed access |
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アクセス権URI |
http://purl.org/coar/access_right/c_f1cf |
| 権利 |
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権利情報 |
© 2025. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ |
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言語 |
en |
| 内容記述 |
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内容記述タイプ |
Abstract |
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内容記述 |
Background: Extramammary Paget’s disease (EMPD) occurs in areas where apocrine glands are abundant. EMPD is associated with the known somatic hotspot mutation g.chr14:38064406 G>A in the promoter region of FOXA1 and S310F in ERBB2. Whether EMPD patients in non-Japanese populations have FOXA1 driver mutations remains undetermined, and the relationship between the clinical characteristics of EMPD patients and the presence of somatic FOXA1 driver mutations has yet to be investigated. Objective: To assess the prevalence and clinical significance of the FOXA1 and ERBB2 hotspot somatic mutations. Methods: Surgical specimens from 99 EMPD patients who underwent surgery from January 2013 to March 2024 were collected from five facilities in Japan and Taiwan. To detect the somatic mutations, amplicon sequencing was performed for FOXA1, and ddPCR was conducted for ERBB2. Immunohistochemical analysis for FOXA1 was performed on 38 samples. Results: The frequencies of the FOXA1 (g.chr14:38064406 G>A) mutation and the ERBB2 S310F mutation were 8/93 (8.6 %) and 37/93 (40.0 %), respectively, among the non-fresh-frozen specimens. FOXA1 somatic hotspot mutation-positive cases were found at all five medical institutions. Regardless of the mutational status of the FOXA1 promoter mutation, all examined cases immunohistochemically exhibited strong FOXA1 expression in the Paget cell nuclei. No significant correlation was found between the FOXA1 somatic mutation or the ERBB2 somatic mutation and any clinical parameter. Conclusion: The FOXA1 somatic hotspot mutation was found in both Japanese and Taiwanese EMPD patients. We cannot rule out the possibility that FOXA1 might be a potential target for EMPD therapies in Japan and Taiwan. |
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言語 |
en |
| 出版者 |
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出版者 |
Elsevier |
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言語 |
en |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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資源タイプresource |
http://purl.org/coar/resource_type/c_6501 |
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タイプ |
journal article |
| 出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| 関連情報 |
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関連タイプ |
isVersionOf |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1016/j.jdermsci.2025.08.001 |
| 収録物識別子 |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
0923-1811 |
| 書誌情報 |
en : Journal of dermatological science
巻 120,
号 1,
p. 32-38,
発行日 2025-10
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| ファイル公開日 |
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日付 |
2026-10-01 |
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日付タイプ |
Available |
20250813_Main_text-final.pdf (648 KB)
