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Updated: Mar 14, 2026
Development of Compendium for Esophageal Squamous Cell Carcinoma
Published on: April 12, 2024
Identification of candidate target genes of genomic aberrations in esophageal squamous cell carcinoma
Tian-Yun Shen1, Li-Li Mei1, Yun-Tan Qiu1
1Faculty of Medicine, Kunming University of Science and Technology, Kunming, Yunnan 650500, P.R. China.
Abstract:
The aim of the present study was to identify the candidate target genes of genomic aberrations in esophageal squamous cell carcinoma (ESCC). Array comparative genomic hybridization (CGH) and quantitative polymerase chain reaction were applied to analyze the copy number changes and expression level of candidate genes, respectively. Integrative analysis revealed that homozygous deletions of cyclin-dependent kinase inhibitor (CDKN) 2A and CDKN2B and gains of fascin actin-bundling protein 1 (FSCN1) and homer scaffolding protein 3 (HOMER3) occurred frequently in ESCC. The results demonstrated that the homozygous deletion of CDKN2A or CDKN2B was significantly associated with lymph node metastasis. Notably, the expression of CDKN2A and CDKN2B was lower in dysplasia than in normal esophageal epithelium. We also observed that the copy number increase of FSCN1 was significantly associated with pT, pN and pStage, and that the gain of HOMER3 was significantly linked with pN and pStage. We further revealed that FSCN1 and HOMER3 were overexpressed in ESCC, and that their overexpression was correlated with copy number increase. In conclusion, CDKN2A, CDKN2B, FSCN1 and HOMER3 are candidate cancer-associated genes and may play a tumorigenic role in ESCC.
Insights
Genomic aberrations in esophageal squamous cell carcinoma (ESCC) frequently involve deletions of cyclin-dependent kinase inhibitor 2A (CDKN2A) and 2B (CDKN2B), and gains of fascin actin-bundling protein 1 (FSCN1) and homer scaffolding protein 3 (HOMER3). These genes are candidate cancer drivers in ESCC.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Esophageal squamous cell carcinoma (ESCC) is a major global health concern.
- Identifying genetic alterations driving ESCC is crucial for developing targeted therapies.
Purpose of the Study:
- To identify candidate genes targeted by genomic aberrations in ESCC.
- To investigate the role of these genes in ESCC development and progression.
Main Methods:
- Array comparative genomic hybridization (CGH) was used to detect copy number changes.
- Quantitative polymerase chain reaction (qPCR) assessed gene expression levels.
- Integrative analysis correlated genomic alterations with clinical data.
Main Results:
- Frequent homozygous deletions of CDKN2A and CDKN2B, and gains of FSCN1 and HOMER3 were observed in ESCC.
- CDKN2A/CDKN2B deletions correlated with lymph node metastasis and showed decreased expression in dysplasia.
- FSCN1 gains linked to advanced tumor stage (pT, pN, pStage), while HOMER3 gains associated with pN and pStage.
- FSCN1 and HOMER3 overexpression correlated with copy number gains and were significantly upregulated in ESCC.
Conclusions:
- CDKN2A, CDKN2B, FSCN1, and HOMER3 are identified as candidate cancer-associated genes in ESCC.
- These genes likely play a significant role in the tumorigenesis of ESCC.
- The findings provide potential therapeutic targets for ESCC treatment.
