Integrated single-cell analysis reveals heterogeneity and therapeutic insights in osteosarcoma

Abstract Osteosarcoma (OSA) is a primary bone malignancy characterized by its aggressive nature and high propensity for metastasis. Despite advancements in multimodal therapies, the clinical outcomes for OSA patients remain suboptimal, necessitating deeper molecular insights for improved therapeutic...

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Main Authors: Dongan He, Xiaoqian Che, Haiming Zhang, Jiandong Guo, Lei Cai, Jian Li, Jinxi Zhang, Xin Jin, Jianfeng Wang
Format: Article
Language:English
Published: Springer 2024-11-01
Series:Discover Oncology
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Online Access:https://doi.org/10.1007/s12672-024-01523-x
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author Dongan He
Xiaoqian Che
Haiming Zhang
Jiandong Guo
Lei Cai
Jian Li
Jinxi Zhang
Xin Jin
Jianfeng Wang
author_facet Dongan He
Xiaoqian Che
Haiming Zhang
Jiandong Guo
Lei Cai
Jian Li
Jinxi Zhang
Xin Jin
Jianfeng Wang
author_sort Dongan He
collection DOAJ
description Abstract Osteosarcoma (OSA) is a primary bone malignancy characterized by its aggressive nature and high propensity for metastasis. Despite advancements in multimodal therapies, the clinical outcomes for OSA patients remain suboptimal, necessitating deeper molecular insights for improved therapeutic strategies. Here, we employed single-cell RNA sequencing (scRNA-seq) to elucidate the cellular heterogeneity and transcriptional dynamics of OSA tumors. Our study identified eleven distinct tumor cell subpopulations, including osteoblastic, chondroblastic, and myeloid lineages, each exhibiting unique transcriptional profiles associated with disease progression and metastasis. Epithelial-mesenchymal transition (EMT) emerged as a critical process driving aggressive phenotypes, supported by gene set enrichment analyses (GSVA) and transcription factor regulatory network analyses. Integration of copy number variation (CNV) data highlighted genomic alterations in osteoblastic and chondroblastic cells, implicating potential therapeutic targets. Furthermore, immune cell infiltration analyses revealed distinct immune profiles across OSA subtypes, correlating with tumor mutational burden (TMB) and clinical outcomes. Our findings underscore the complexity of OSA biology and provide a foundation for developing personalized treatment strategies targeting tumor heterogeneity and immune interactions.
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issn 2730-6011
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spelling doaj-art-df6cc060ca97480d99adf93a1995f6c62024-11-24T12:31:59ZengSpringerDiscover Oncology2730-60112024-11-0115111710.1007/s12672-024-01523-xIntegrated single-cell analysis reveals heterogeneity and therapeutic insights in osteosarcomaDongan He0Xiaoqian Che1Haiming Zhang2Jiandong Guo3Lei Cai4Jian Li5Jinxi Zhang6Xin Jin7Jianfeng Wang8Department of Orthopaedics, Hangzhou Ninth People’s HospitalDepartment of Orthopaedics, Hangzhou Ninth People’s HospitalDepartment of Orthopaedics, Hangzhou Ninth People’s HospitalDepartment of Orthopaedics, Hangzhou Ninth People’s HospitalDepartment of Orthopaedics, Hangzhou Ninth People’s HospitalDepartment of Orthopaedics, Hangzhou Ninth People’s HospitalDepartment of Orthopaedics, Hangzhou Ninth People’s HospitalDepartment of Orthopaedics, Hangzhou Ninth People’s HospitalDepartment of Orthopaedics, Hangzhou Ninth People’s HospitalAbstract Osteosarcoma (OSA) is a primary bone malignancy characterized by its aggressive nature and high propensity for metastasis. Despite advancements in multimodal therapies, the clinical outcomes for OSA patients remain suboptimal, necessitating deeper molecular insights for improved therapeutic strategies. Here, we employed single-cell RNA sequencing (scRNA-seq) to elucidate the cellular heterogeneity and transcriptional dynamics of OSA tumors. Our study identified eleven distinct tumor cell subpopulations, including osteoblastic, chondroblastic, and myeloid lineages, each exhibiting unique transcriptional profiles associated with disease progression and metastasis. Epithelial-mesenchymal transition (EMT) emerged as a critical process driving aggressive phenotypes, supported by gene set enrichment analyses (GSVA) and transcription factor regulatory network analyses. Integration of copy number variation (CNV) data highlighted genomic alterations in osteoblastic and chondroblastic cells, implicating potential therapeutic targets. Furthermore, immune cell infiltration analyses revealed distinct immune profiles across OSA subtypes, correlating with tumor mutational burden (TMB) and clinical outcomes. Our findings underscore the complexity of OSA biology and provide a foundation for developing personalized treatment strategies targeting tumor heterogeneity and immune interactions.https://doi.org/10.1007/s12672-024-01523-xOsteosarcomaSingle-cell analysisHeterogeneityEpithelial–mesenchymal transitionPersonalized medicine
spellingShingle Dongan He
Xiaoqian Che
Haiming Zhang
Jiandong Guo
Lei Cai
Jian Li
Jinxi Zhang
Xin Jin
Jianfeng Wang
Integrated single-cell analysis reveals heterogeneity and therapeutic insights in osteosarcoma
Discover Oncology
Osteosarcoma
Single-cell analysis
Heterogeneity
Epithelial–mesenchymal transition
Personalized medicine
title Integrated single-cell analysis reveals heterogeneity and therapeutic insights in osteosarcoma
title_full Integrated single-cell analysis reveals heterogeneity and therapeutic insights in osteosarcoma
title_fullStr Integrated single-cell analysis reveals heterogeneity and therapeutic insights in osteosarcoma
title_full_unstemmed Integrated single-cell analysis reveals heterogeneity and therapeutic insights in osteosarcoma
title_short Integrated single-cell analysis reveals heterogeneity and therapeutic insights in osteosarcoma
title_sort integrated single cell analysis reveals heterogeneity and therapeutic insights in osteosarcoma
topic Osteosarcoma
Single-cell analysis
Heterogeneity
Epithelial–mesenchymal transition
Personalized medicine
url https://doi.org/10.1007/s12672-024-01523-x
work_keys_str_mv AT donganhe integratedsinglecellanalysisrevealsheterogeneityandtherapeuticinsightsinosteosarcoma
AT xiaoqianche integratedsinglecellanalysisrevealsheterogeneityandtherapeuticinsightsinosteosarcoma
AT haimingzhang integratedsinglecellanalysisrevealsheterogeneityandtherapeuticinsightsinosteosarcoma
AT jiandongguo integratedsinglecellanalysisrevealsheterogeneityandtherapeuticinsightsinosteosarcoma
AT leicai integratedsinglecellanalysisrevealsheterogeneityandtherapeuticinsightsinosteosarcoma
AT jianli integratedsinglecellanalysisrevealsheterogeneityandtherapeuticinsightsinosteosarcoma
AT jinxizhang integratedsinglecellanalysisrevealsheterogeneityandtherapeuticinsightsinosteosarcoma
AT xinjin integratedsinglecellanalysisrevealsheterogeneityandtherapeuticinsightsinosteosarcoma
AT jianfengwang integratedsinglecellanalysisrevealsheterogeneityandtherapeuticinsightsinosteosarcoma