Scholarlink

Background <p>To explore and characterize gene expression patterns and RNA-seq–derived sequence variation in samples from Chilean patients with low-grade oral epithelial dysplasia (LG-OED) and oral squamous cell carcinoma (OSCC).</p> Methods and Results <p>Transcriptome sequencing was performed on pooled samples of 5 LG-OED and compared with 5 OSCC and healthy oral mucosa tissue. Subsequently, a variation analysis of the transcriptome was conducted, along with functional classification of the most enriched signaling pathways. Dysregulated genes were found in both LG-OED and OSCC compared to the control groups. The most overexpressed genes were <i>KRTAP5-4</i>, <i>LCE3B</i>, <i>DDX3Y</i>, <i>KDM5D</i>, and <i>MYH2</i>, while the most repressed genes were <i>TYRP1</i>, <i>HS3ST6</i>, <i>SNORA20</i>, <i>KRT76</i>, <i>TGM7</i>, and <i>SOX21</i> in LG-OED and OSCC, respectively. A large proportion of the identified variants were single nucleotide polymorphisms (SNPs). Based on frameshift effects, missense mutations were the most common. The most enriched signaling pathways in LG-OED were the Hippo, NOTCH, and TGF-beta pathways; in OSCC, the NRF2, TGF-beta, and PI3K pathways.</p> Conclusions <p>This exploratory study provides an initial molecular characterization of LG-OED and OSCC in Chilean patients, identifying candidate transcriptomic alterations and RNA-seq–derived variants that may contribute to understanding early oral carcinogenesis in this underrepresented population.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Exploratory transcriptomic analysis of low-grade oral epithelial dysplasia and oral squamous cell carcinoma in Chilean patients

  • 期刊论文

  • 发表日期：

    2026年7月29日

查看全文
  • Mateus José Dutra,
  • Patricio Miranda Cortes,
  • Valentina Fernanda Fernández Díaz,
  • Mauricio Alejandro Sáez Venegas,
  • Sebastián Morales-Pison,
  • Wilfredo Alejandro González-Arriagada,
  • Ricardo Fernández-Ramires,
  • Daniela Adorno-Farias

摘要

Background

To explore and characterize gene expression patterns and RNA-seq–derived sequence variation in samples from Chilean patients with low-grade oral epithelial dysplasia (LG-OED) and oral squamous cell carcinoma (OSCC).

Methods and Results

Transcriptome sequencing was performed on pooled samples of 5 LG-OED and compared with 5 OSCC and healthy oral mucosa tissue. Subsequently, a variation analysis of the transcriptome was conducted, along with functional classification of the most enriched signaling pathways. Dysregulated genes were found in both LG-OED and OSCC compared to the control groups. The most overexpressed genes were KRTAP5-4, LCE3B, DDX3Y, KDM5D, and MYH2, while the most repressed genes were TYRP1, HS3ST6, SNORA20, KRT76, TGM7, and SOX21 in LG-OED and OSCC, respectively. A large proportion of the identified variants were single nucleotide polymorphisms (SNPs). Based on frameshift effects, missense mutations were the most common. The most enriched signaling pathways in LG-OED were the Hippo, NOTCH, and TGF-beta pathways; in OSCC, the NRF2, TGF-beta, and PI3K pathways.

Conclusions

This exploratory study provides an initial molecular characterization of LG-OED and OSCC in Chilean patients, identifying candidate transcriptomic alterations and RNA-seq–derived variants that may contribute to understanding early oral carcinogenesis in this underrepresented population.