Abstract

Enchondromas are the most common primary benign osseous neoplasms that occur in the medullary bone; they can undergo malignant transformation into chondrosarcoma. However, enchondromas are always undetected in patients, and the molecular mechanism is unclear. To identify key genes and pathways associated with the occurrence and development of enchondromas, we downloaded the gene expression dataset GSE22855 and obtained the differentially expressed genes (DEGs) by analyzing high-throughput gene expression in enchondromas. In total, 635 genes were identified as DEGs. Of these, 225 genes (35.43%) were up-regulated, and the remaining 410 genes (64.57%) were down-regulated. We identified the predominant gene ontology (GO) categories and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways that were significantly over-represented in the enchondromas samples compared with the control samples. Subsequently the top 10 core genes were identified from the protein-protein interaction (PPI) network. The enrichment analyses of the genes mainly involved in two significant modules showed that the DEGs were principally related to ribosomes, protein digestion and absorption, ECM-receptor interaction, focal adhesion, amoebiasis and the PI3K-Akt signaling pathway.Together, these data elucidate the molecular mechanisms underlying the occurrence and development of enchondromas and provide promising candidates for therapeutic intervention and prognostic evaluation. However, further experimental studies are needed to confirm these results.

Highlights

  • Enchondromas are the most common primary benign osseous neoplasms of mature hyaline cartilage that occur within the medullary cavity of bone, and enchondromas account for 12 to 24 percent of all benign bone tumors and 3 to 10 percent of all bone tumors [1, 2]

  • We identified the predominant gene ontology (GO) categories and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways that were significantly over-represented in the enchondromas samples compared with the control samples

  • The gene expression profile GSE22855 was downloaded from the GEO database, and the GEO2R method was used to identify differentially expressed genes (DEGs) in enchondroma samples compared with control samples

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Summary

Introduction

Enchondromas are the most common primary benign osseous neoplasms of mature hyaline cartilage that occur within the medullary cavity of bone, and enchondromas account for 12 to 24 percent of all benign bone tumors and 3 to 10 percent of all bone tumors [1, 2]. Enchondromas can occur as solitary lesions or as multiple lesions (Ollier disease, Maffucci syndrome) [5, 6]. Multiple enchondromas can lead to malignant transformation more often Enchondromas and low-grade chondrosarcomas are usually histologically similar, so it is often impossible to distinguish them in clinics [13]. Finding out the molecular mechanism or biomarkers is necessary to help us understand the development of enchondromas and www.impactjournals.com/oncotarget diagnose and treat enchondromas. The molecular mechanism of enchondromas is unclear. Identifying characteristic alerted genes and mechanisms associated with enchondromas is important for the inhibition of malignant transformation and the development of more effective therapies. Analysis of gene expression profiling can provide a better understanding of molecular mechanisms and help to better diagnose or predict treatment response of patients with enchondroma

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