Distinct genomic features between osteosarcomas firstly metastasing to bone and to lung
Background: Osteosarcoma initially metastasing to bone only shows distinct biological features compared to osteosarcoma that firstly metastasizes to the lung, which suggests us underlying different genomic pathogenetic mechanism. Methods: We analyzed whole-exome sequencing (WES) data for 38 osteosar...
| Main Authors: | , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-05-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844023027342 |
| _version_ | 1797815708008054784 |
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| author | Lu Xie Zhenyu Cai Hezhe Lu Fanfei Meng Xin Zhang Kun Luo Xiaoxing Su Yan Lei Jiuhui Xu Jingbing Lou Han Wang Zhiye Du Yunfan Wang Yuan Li Tingting Ren Jie Xu Xin Sun Xiaodong Tang Wei Guo |
| author_facet | Lu Xie Zhenyu Cai Hezhe Lu Fanfei Meng Xin Zhang Kun Luo Xiaoxing Su Yan Lei Jiuhui Xu Jingbing Lou Han Wang Zhiye Du Yunfan Wang Yuan Li Tingting Ren Jie Xu Xin Sun Xiaodong Tang Wei Guo |
| author_sort | Lu Xie |
| collection | DOAJ |
| description | Background: Osteosarcoma initially metastasing to bone only shows distinct biological features compared to osteosarcoma that firstly metastasizes to the lung, which suggests us underlying different genomic pathogenetic mechanism. Methods: We analyzed whole-exome sequencing (WES) data for 38 osteosarcoma with paired samples in different relapse patterns. We also sought to redefine disease subclassifications for osteosarcoma based on genetic alterations and correlate these genetic profiles with clinical treatment courses to elucidate potential evolving cladograms. Results: We investigated WES of 12/38 patients with high-grade osteosarcoma (31.6%) with initial bone metastasis (group A) and 26/38 (68.4%) with initial pulmonary metastasis (group B), of whom 15/38 (39.5%) had paired samples of primary lesions and metastatic lesions. We found that osteosarcoma in group A mainly carries single-nucleotide variations displaying higher tumor mutation burden and neoantigen load and more tertiary lymphoid structures, while those in group B mainly exhibits structural variants. High conservation of reported genetic sequencing over time in their evolving cladograms. Conclusions: Osteosarcoma with mainly single-nucleotide variations other than structural variants might exhibit biological behavior predisposing toward bone metastases as well as better immunogenicity in tumor microenvironment. |
| first_indexed | 2024-03-13T08:26:46Z |
| format | Article |
| id | doaj.art-629030ab3c324f20982b605f7659eee1 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-03-13T08:26:46Z |
| publishDate | 2023-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-629030ab3c324f20982b605f7659eee12023-05-31T04:44:41ZengElsevierHeliyon2405-84402023-05-0195e15527Distinct genomic features between osteosarcomas firstly metastasing to bone and to lungLu Xie0Zhenyu Cai1Hezhe Lu2Fanfei Meng3Xin Zhang4Kun Luo5Xiaoxing Su6Yan Lei7Jiuhui Xu8Jingbing Lou9Han Wang10Zhiye Du11Yunfan Wang12Yuan Li13Tingting Ren14Jie Xu15Xin Sun16Xiaodong Tang17Wei Guo18Musculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, ChinaMusculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, ChinaState Key Laboratory of Membrane Biology, Institute of Zoology, Chinese Academy of Sciences, No. A3 Datun Road, Chaoyang District, Beijing 100101, ChinaShanghai OrigiMed Co., Ltd, Shanghai, No. 3576 Zhaolou Road, Minhang District, Shanghai, 201112, ChinaShanghai OrigiMed Co., Ltd, Shanghai, No. 3576 Zhaolou Road, Minhang District, Shanghai, 201112, ChinaShanghai OrigiMed Co., Ltd, Shanghai, No. 3576 Zhaolou Road, Minhang District, Shanghai, 201112, ChinaBerry Oncology Corporation, Fuzhou, 350200, ChinaBerry Oncology Corporation, Fuzhou, 350200, ChinaMusculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, ChinaMusculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, ChinaMusculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, ChinaMusculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, ChinaPathology Department, Peking University Shougang Hospital, No. 9 Jinyuanzhuang Road, Shijingshan District, Beijing, 100144, ChinaRadiology Department & Nuclear Medicine Department, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing, 100044, ChinaMusculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, ChinaMusculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, ChinaMusculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, ChinaMusculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, China; Corresponding author.Musculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, China; Corresponding author.Background: Osteosarcoma initially metastasing to bone only shows distinct biological features compared to osteosarcoma that firstly metastasizes to the lung, which suggests us underlying different genomic pathogenetic mechanism. Methods: We analyzed whole-exome sequencing (WES) data for 38 osteosarcoma with paired samples in different relapse patterns. We also sought to redefine disease subclassifications for osteosarcoma based on genetic alterations and correlate these genetic profiles with clinical treatment courses to elucidate potential evolving cladograms. Results: We investigated WES of 12/38 patients with high-grade osteosarcoma (31.6%) with initial bone metastasis (group A) and 26/38 (68.4%) with initial pulmonary metastasis (group B), of whom 15/38 (39.5%) had paired samples of primary lesions and metastatic lesions. We found that osteosarcoma in group A mainly carries single-nucleotide variations displaying higher tumor mutation burden and neoantigen load and more tertiary lymphoid structures, while those in group B mainly exhibits structural variants. High conservation of reported genetic sequencing over time in their evolving cladograms. Conclusions: Osteosarcoma with mainly single-nucleotide variations other than structural variants might exhibit biological behavior predisposing toward bone metastases as well as better immunogenicity in tumor microenvironment.http://www.sciencedirect.com/science/article/pii/S2405844023027342OsteosarcomaMetastasesSingle-nucleotide variation (SNV)Structural variation (SV) |
| spellingShingle | Lu Xie Zhenyu Cai Hezhe Lu Fanfei Meng Xin Zhang Kun Luo Xiaoxing Su Yan Lei Jiuhui Xu Jingbing Lou Han Wang Zhiye Du Yunfan Wang Yuan Li Tingting Ren Jie Xu Xin Sun Xiaodong Tang Wei Guo Distinct genomic features between osteosarcomas firstly metastasing to bone and to lung Heliyon Osteosarcoma Metastases Single-nucleotide variation (SNV) Structural variation (SV) |
| title | Distinct genomic features between osteosarcomas firstly metastasing to bone and to lung |
| title_full | Distinct genomic features between osteosarcomas firstly metastasing to bone and to lung |
| title_fullStr | Distinct genomic features between osteosarcomas firstly metastasing to bone and to lung |
| title_full_unstemmed | Distinct genomic features between osteosarcomas firstly metastasing to bone and to lung |
| title_short | Distinct genomic features between osteosarcomas firstly metastasing to bone and to lung |
| title_sort | distinct genomic features between osteosarcomas firstly metastasing to bone and to lung |
| topic | Osteosarcoma Metastases Single-nucleotide variation (SNV) Structural variation (SV) |
| url | http://www.sciencedirect.com/science/article/pii/S2405844023027342 |
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