| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2023-07-20 |
| タイトル |
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|
タイトル |
Genetic profile of thymic epithelial tumors in the Japanese population: an exploratory study examining potential therapeutic targets |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Thymic epithelial tumors |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
enetic profile |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
next generation sequencing |
| 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 |
| 著者 |
Shimada, Midori
Taniguchi, Hirokazu
Yamaguchi, Hiroyuki
Gyotoku, Hiroshi
Sasaki, Daisuke
Kaku, Norihito
Senju, Chikako
Senju, Hiroaki
Imamura, Erika
Takemoto, Shinnosuke
Yamamoto, Kazuko
Sakamoto, Noriho
Obase, Yasushi
Tsuchiya, Tomoshi
Fukuda, Minoru
Soda, Hiroshi
Ashizawa, Kazuto
Fukuoka, Junya
Nagayasu, Takeshi
Yanagihara, Katsunori
Mukae, Hiroshi
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| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Background: Thymic epithelial tumors (TETs) are prone to developing in East Asian populations. However, little is known about the genomic profile of TETs in East Asian populations, and the genomic aberrations in TETs have not yet been fully clarified. Thus, molecular targeted therapies for patients with TETs have not been established. This prospective study was conducted to explore the genetic abnormalities of surgically resected TETs in a Japanese cohort and to identify clues for carcinogenesis and potential therapeutic targets in TETs. Methods: Genetic profiles of TETs were investigated using fresh-frozen specimens resected from operable cases with TETs. DNA sequencing was performed using a next-generation sequencing (NGS) gene panel test with Ion Reporter™ and CLC Genomics Workbench 11.0. The mutation sites were further confirmed by Sanger sequencing, digital droplet polymerase chain reaction (ddPCR), and TA cloning for validation. Results: Among 43 patients diagnosed with anterior mediastinal tumors between January 2013 and March 2019, NGS and validation analyses were performed in 31 patients [29 thymomas and two thymic cancers (TCs)] who met the study criteria. Of these, 12 cases of thymoma types A, AB, B1, and B2 harbored the general transcription factor 2-I (GTF2I) mutation (L424H). Conversely, the mutation was not detected in type B3 thymoma or TC, suggesting that the GTF2I mutation existed in indolent types of TETs. Rat sarcoma viral oncogene (RAS) mutations were detected in three cases [Harvey RAS (HRAS) in two cases of type AB thymoma and neuroblastoma RAS (NRAS)] in one case of type B1 thymoma), and additional sex combs like 1 (ASXL1) mutation was present in one case of TC. All RAS mutations were observed in GTF2I-mutated cases. Conclusions: The GTF2I mutation (L424H) is the most frequently occurring mutation in the limited histology of thymoma, consistent with those in the non-Asian population. HRAS and NRAS mutations co-occurred in cases harboring the GTF2I mutation. These findings suggest that the existence of the GTF2I mutation might be related to indolent types of TETs, and RAS mutations could be candidates as therapeutic targets in TETs. |
|
言語 |
en |
| 書誌情報 |
en : Translational Lung Cancer Research
巻 12,
号 4,
p. 707-718,
発行日 2023-05-23
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| 出版者 |
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|
出版者 |
AME Publishing Company |
|
言語 |
en |
| ISSN |
|
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収録物識別子タイプ |
ISSN |
|
収録物識別子 |
22186751 |
| DOI |
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|
関連タイプ |
isIdenticalTo |
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|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.21037/tlcr-22-794 |
| 権利 |
|
|
言語 |
en |
|
権利情報 |
© Translational Lung Cancer Research. All rights reserved. This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/. |
| 著者版フラグ |
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出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 引用 |
|
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内容記述タイプ |
Other |
|
内容記述 |
Translational Lung Cancer Research, 12(4), pp.707-718; 2023 |
TLCR12_707.pdf (828 KB)
