Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations
Uterine adenosarcoma (UA) is an uncommon mixed tumor containing a benign to at most mildly atypical epithelial component and a sarcoma-like stroma, usually a low-grade, stromal component, with rare heterogeneous elements. Currently, tumor etiology is largely unknown. To better understand the gene mu...
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | International Journal of Analytical Chemistry |
| Online Access: | http://dx.doi.org/10.1155/2023/7436368 |
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| author | Yao Li Xue Meng Yuqing Luo Xiang Huang Shuai Luo Jinjing Wang |
| author_facet | Yao Li Xue Meng Yuqing Luo Xiang Huang Shuai Luo Jinjing Wang |
| author_sort | Yao Li |
| collection | DOAJ |
| description | Uterine adenosarcoma (UA) is an uncommon mixed tumor containing a benign to at most mildly atypical epithelial component and a sarcoma-like stroma, usually a low-grade, stromal component, with rare heterogeneous elements. Currently, tumor etiology is largely unknown. To better understand the gene mutations in UA, next-generation sequencing (NGS) technology analysis was performed. This study showed that two low-grade UAs with heterologous components had ATRX gene frameshift mutation, and one patient had a MED12 missense mutation. Copy number amplification genes were mainly observed on chromosome 12q13–15. In this study, PIK3/AKT/PTEN pathway mutations were found to be common in adenosarcoma. In addition, a rare BCORL1-PRR14L fusion mutation was also identified. These findings provide a basis for future research into these molecular changes in tumorigenesis and targeted therapy. |
| format | Article |
| id | doaj-art-c74ac78e8b1c4d2eb97b6fac35af8f0b |
| institution | DOAJ |
| issn | 1687-8779 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Analytical Chemistry |
| spelling | doaj-art-c74ac78e8b1c4d2eb97b6fac35af8f0b2025-08-20T03:22:57ZengWileyInternational Journal of Analytical Chemistry1687-87792023-01-01202310.1155/2023/7436368Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic MutationsYao Li0Xue Meng1Yuqing Luo2Xiang Huang3Shuai Luo4Jinjing Wang5Department of PathologyDepartment of PathologyDepartment of PathologyDepartment of PathologyDepartment of PathologyDepartment of PathologyUterine adenosarcoma (UA) is an uncommon mixed tumor containing a benign to at most mildly atypical epithelial component and a sarcoma-like stroma, usually a low-grade, stromal component, with rare heterogeneous elements. Currently, tumor etiology is largely unknown. To better understand the gene mutations in UA, next-generation sequencing (NGS) technology analysis was performed. This study showed that two low-grade UAs with heterologous components had ATRX gene frameshift mutation, and one patient had a MED12 missense mutation. Copy number amplification genes were mainly observed on chromosome 12q13–15. In this study, PIK3/AKT/PTEN pathway mutations were found to be common in adenosarcoma. In addition, a rare BCORL1-PRR14L fusion mutation was also identified. These findings provide a basis for future research into these molecular changes in tumorigenesis and targeted therapy.http://dx.doi.org/10.1155/2023/7436368 |
| spellingShingle | Yao Li Xue Meng Yuqing Luo Xiang Huang Shuai Luo Jinjing Wang Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations International Journal of Analytical Chemistry |
| title | Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations |
| title_full | Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations |
| title_fullStr | Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations |
| title_full_unstemmed | Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations |
| title_short | Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations |
| title_sort | next generation sequencing analysis of 3 uterine adenosarcomas with heterogeneously differentiated genomic mutations |
| url | http://dx.doi.org/10.1155/2023/7436368 |
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