Single-cell transcriptomics enable the characterization of local extension in retinoblastoma
Abstract Retinoblastoma (RB) is the most prevalent ocular tumor of childhood, and its extraocular invasion significantly increases the risk of metastasis. Nevertheless, a single-cell characterization of RB local extension has been lacking. Here, we perform single-cell RNA sequencing on four RB sampl...
| Main Authors: | , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2024-01-01
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| Series: | Communications Biology |
| Online Access: | https://doi.org/10.1038/s42003-023-05732-y |
| _version_ | 1797362966695247872 |
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| author | Yaoming Liu Wei Hu Yanjie Xie Junjie Tang Huan Ma Jinmiao Li Jiahe Nie Yinghao Wang Yang Gao Chao Cheng Cheng Li Yujun Ma Shicai Su Zhihui Zhang Yuekun Bao Yi Ren Xinyue Wang Fengyu Sun Shengli Li Rong Lu |
| author_facet | Yaoming Liu Wei Hu Yanjie Xie Junjie Tang Huan Ma Jinmiao Li Jiahe Nie Yinghao Wang Yang Gao Chao Cheng Cheng Li Yujun Ma Shicai Su Zhihui Zhang Yuekun Bao Yi Ren Xinyue Wang Fengyu Sun Shengli Li Rong Lu |
| author_sort | Yaoming Liu |
| collection | DOAJ |
| description | Abstract Retinoblastoma (RB) is the most prevalent ocular tumor of childhood, and its extraocular invasion significantly increases the risk of metastasis. Nevertheless, a single-cell characterization of RB local extension has been lacking. Here, we perform single-cell RNA sequencing on four RB samples (two from intraocular and two from extraocular RB patients), and integrate public datasets of five normal retina samples, four intraocular samples, and three extraocular RB samples to characterize RB local extension at the single-cell level. A total of 128,454 qualified cells are obtained in nine major cell types. Copy number variation inference reveals chromosome 6p amplification in cells derived from extraocular RB samples. In cellular heterogeneity analysis, we identified 10, 8, and 7 cell subpopulations in cone precursor like cells, retinoma like cells, and MKI67+ photoreceptorness decreased (MKI67+ PhrD) cells, respectively. A high expression level of SOX4 was detected in cells from extraocular samples, especially in MKI67+ PhrD cells, which was verified in additional clinical RB samples. These results suggest that SOX4 might drive RB local extension. Our study presents a single-cell transcriptomic landscape of intraocular and extraocular RB samples, improving our understanding of RB local extension at the single-cell resolution and providing potential therapeutic targets for RB patients. |
| first_indexed | 2024-03-08T16:14:21Z |
| format | Article |
| id | doaj.art-6a07ac6413074d529d0ab06398b06756 |
| institution | Directory Open Access Journal |
| issn | 2399-3642 |
| language | English |
| last_indexed | 2024-03-08T16:14:21Z |
| publishDate | 2024-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Communications Biology |
| spelling | doaj.art-6a07ac6413074d529d0ab06398b067562024-01-07T12:40:00ZengNature PortfolioCommunications Biology2399-36422024-01-017111210.1038/s42003-023-05732-ySingle-cell transcriptomics enable the characterization of local extension in retinoblastomaYaoming Liu0Wei Hu1Yanjie Xie2Junjie Tang3Huan Ma4Jinmiao Li5Jiahe Nie6Yinghao Wang7Yang Gao8Chao Cheng9Cheng Li10Yujun Ma11Shicai Su12Zhihui Zhang13Yuekun Bao14Yi Ren15Xinyue Wang16Fengyu Sun17Shengli Li18Rong Lu19State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual SciencePrecision Research Center for Refractory Diseases, Institute for Clinical Research, Shanghai General Hospital, Shanghai Jiao Tong University School of MedicineState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual SciencePrecision Research Center for Refractory Diseases, Institute for Clinical Research, Shanghai General Hospital, Shanghai Jiao Tong University School of MedicineState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceAbstract Retinoblastoma (RB) is the most prevalent ocular tumor of childhood, and its extraocular invasion significantly increases the risk of metastasis. Nevertheless, a single-cell characterization of RB local extension has been lacking. Here, we perform single-cell RNA sequencing on four RB samples (two from intraocular and two from extraocular RB patients), and integrate public datasets of five normal retina samples, four intraocular samples, and three extraocular RB samples to characterize RB local extension at the single-cell level. A total of 128,454 qualified cells are obtained in nine major cell types. Copy number variation inference reveals chromosome 6p amplification in cells derived from extraocular RB samples. In cellular heterogeneity analysis, we identified 10, 8, and 7 cell subpopulations in cone precursor like cells, retinoma like cells, and MKI67+ photoreceptorness decreased (MKI67+ PhrD) cells, respectively. A high expression level of SOX4 was detected in cells from extraocular samples, especially in MKI67+ PhrD cells, which was verified in additional clinical RB samples. These results suggest that SOX4 might drive RB local extension. Our study presents a single-cell transcriptomic landscape of intraocular and extraocular RB samples, improving our understanding of RB local extension at the single-cell resolution and providing potential therapeutic targets for RB patients.https://doi.org/10.1038/s42003-023-05732-y |
| spellingShingle | Yaoming Liu Wei Hu Yanjie Xie Junjie Tang Huan Ma Jinmiao Li Jiahe Nie Yinghao Wang Yang Gao Chao Cheng Cheng Li Yujun Ma Shicai Su Zhihui Zhang Yuekun Bao Yi Ren Xinyue Wang Fengyu Sun Shengli Li Rong Lu Single-cell transcriptomics enable the characterization of local extension in retinoblastoma Communications Biology |
| title | Single-cell transcriptomics enable the characterization of local extension in retinoblastoma |
| title_full | Single-cell transcriptomics enable the characterization of local extension in retinoblastoma |
| title_fullStr | Single-cell transcriptomics enable the characterization of local extension in retinoblastoma |
| title_full_unstemmed | Single-cell transcriptomics enable the characterization of local extension in retinoblastoma |
| title_short | Single-cell transcriptomics enable the characterization of local extension in retinoblastoma |
| title_sort | single cell transcriptomics enable the characterization of local extension in retinoblastoma |
| url | https://doi.org/10.1038/s42003-023-05732-y |
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