Human Gene Set: SU_HO_CONV_CENT_CHONDROSARCOMA_C4_HIGH_GRADE_CHONDROSARCOMA_1


Standard name SU_HO_CONV_CENT_CHONDROSARCOMA_C4_HIGH_GRADE_CHONDROSARCOMA_1
Systematic name M49196
Brief description Major neoplastic cell cluster of High_1 tumors, with markers (e.g., EIF3E, RPL30, RPL32) enriched in ribosome biogenesis and translation GO terms.
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 4. cluster.name High1
Related gene sets (show 25 additional gene sets from the source publication)

(show 5 gene sets from any of these authors)
External links https://www.nature.com/articles/s42003-024-05790-w
Filtered by similarity ?
Source species Homo sapiens
Contributed by Anthony Castanza (MSigDB Team)
Source platform or
identifier namespace		 HUMAN_GENE_SYMBOL
Dataset references (show 1 datasets)
Download gene set format: grp | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 96 genes
Gene families ? Categorize these 96 genes by gene family
Show members (show 99 source identifiers mapped to 96 genes)
Version history 2025.1.Hs: First Introduced.

See MSigDB license terms here. Please note that certain gene sets have special access terms.