口腔潜在前恶性疾病中Y染色体的丧失预测恶性进展:一种综合性跨物种多队列生物信息学研究
Rui Han1, Jos B Poell2,3, Cristina Conde-Lopez4
1Department of Otorhinolaryngology, Head and Neck Surgery, Heidelberg University Hospital, Heidelberg, Germany.
Head & neck
|October 22, 2025
概括
在口腔潜在恶性疾病 (OPMDs) 中发现了Y染色体 (LOY) 和Y染色体基因表达 (EDY) 的损失. 这些变化促进恶性进展,建议LOY/EDY作为诊断生物标志物和口腔状细胞癌 (OSCC) 的治疗标.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 生物信息学是一种生物信息学.
背景情况:
- 失去Y染色体 (LOY) 和极度下调Y染色体基因表达 (EDY) 在口腔状细胞癌 (OSCC) 中很常见.
- 在口腔潜在恶性疾病 (OPMDs) 中LOY和EDY的具体作用仍然基本上是未知的.
研究的目的:
- 调查LOY和EDY在OPMDs中的流行率和功能影响.
- 确定LOY/EDY是否可以预测从OPMD到OSCC的恶性进展.
主要方法:
- 从小鼠OSCC模型和人类队伍的公共数据集的全面生物信息分析.
- 包括LOY/EDY检测,基因组变异分析 (GSVA),PROGENy通路分析,细胞间通信推断和表观遗传相关性研究.
主要成果:
- 在男性OPMD患者中普遍存在LOY,在小鼠模型和人类OPMD中观察到EDY.
- LOY/EDY的存在与OPMD进展到OSCC的风险增加相关.
- 单细胞分析表明,EDY阳性上皮细胞显示瘤性通路活性升高和IL17-IL17RC信号传递,与KDM5D损失和表观遗传改变有关.
结论:
- 在OPMD中可以检测到LOY/EDY,并通过改变瘤信号和细胞相互作用驱动恶性进展.
- LOY/EDY显示出作为诊断生物标志物和治疗点,改善OPMD和OSCC临床管理的潜力.
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