Human Gene Set: SU_HO_CONV_CENT_CHONDROSARCOMA_C3_CHONDROBLASTIC_OSTEOSARCOMA


Standard name SU_HO_CONV_CENT_CHONDROSARCOMA_C3_CHONDROBLASTIC_OSTEOSARCOMA
Systematic name M49192
Brief description A unique cluster within chondroblastic osteosarcoma samples, expressing genes associated with hypertrophic chondrocyte differentiation, including COL10, SOX9, and LOXL2. This particular cluster is separate from the neoplastic chondrocyte clusters typically associated with CCCS.
Full description or abstract The transformation of benign lesions to malignant tumours is a crucial aspect of understanding chondrosarcomas, which are malignant cartilage tumours that could develop from benign chondroid lesions. However, the process of malignant transformation for chondroid lesions remains poorly understood, and no reliable markers are available to aid clinical decision-making. To address this issue, we conducted a study analysing 11 primary cartilage tumours and controls using single-cell RNA sequencing. By creating a single-cell atlas, we were able to identify the role of endoplasmic reticulum (ER) stress in the malignant transformation of conventional central chondrosarcomas (CCCS). Our research revealed that lower levels of ER stress promote chondrosarcoma growth in a patient-derived xenograft mouse model, while intensive ER stress reduces primary chondrosarcoma cell viability. Furthermore, we discovered that the NF-?B pathway alleviates ER stress-induced apoptosis during chondrosarcoma progression. Our single-cell signatures and large public data support the use of key ER stress regulators, such as DNA Damage Inducible Transcript 3 (DDIT3; also known as CHOP), as malignant markers for overall patient survival. Ultimately, our study highlights the significant role that ER stress plays in the malignant transformation of cartilaginous tumours and provides a valuable resource for future diagnostic markers and therapeutic strategies.
Collection C8: Cell Type Signature
Source publication Pubmed 38267611   Authors: Su Z,Ho JWK,Yau RCH,Lam YL,Shek TWH,Yeung MCF,Chen H,Oreffo ROC,Cheah KSE,Cheung KSC
Exact source 42003_2024_5790_MOESM6_ESM Supplementary Data 3, Sheet 1. Clusters. Cluster 3. cluster.name Cos
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External links https://www.nature.com/articles/s42003-024-05790-w
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Source species Homo sapiens
Contributed by Anthony Castanza (MSigDB Team)
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identifier namespace		 HUMAN_GENE_SYMBOL
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