在头部和部状细胞癌中线粒体DNA突变:系统审查和元分析
Mahtab Mottaghi1, Farnaz Jafari2, Marjan Nejati3
1School of Dentistry, Mashhad University of Medical Sciences, Mashhad, Iran.
BMC cancer
|December 6, 2025
概括
在头部和部状细胞癌 (HNSCC) 中,线粒体DNA (mtDNA) 突变由D-循环和ND基因主导. 这些发现突显了反复出现的mtDNA变异,表明了潜在的生物标志物实用性.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 头部和部状细胞癌 (HNSCC) 约占头部和部恶性瘤的95%.
- 目前对HNSCC的临床病理学预测是有限的.
- 线粒体DNA (mtDNA) 突变正在成为HNSCC的潜在生物标志物.
研究的目的:
- 系统地审查和元分析各种线粒体基因组区域对HNSCC的总体突变负担的贡献.
- 在HNSCC中对mtDNA突变的生物学重要性进行上下文化.
- 量化六个mtDNA区域的突变份额.
主要方法:
- 一个系统的审查和元分析,遵循PRISMA标准.
- 在PubMed,EMBASE,Scopus和Web of Science数据库中搜索到2025年5月.
- 包括报告HNSCC体质mtDNA突变的研究,并使用JBI工具评估质量.
- 在随机效应模型下进行比例元分析,以确定聚合突变份额.
主要成果:
- 分析包括了17项研究.
- D环是最常见的突变热点 (67%),其次是ND基因 (29%).
- COX (12%),rRNA (13%) 和tRNA (9%) 突变是可变的,而CYTB突变是不太常见但恒定的 (8%).
- 在大多数mtDNA区域中观察到显著的异质性.
结论:
- D环和ND基因代表了HNSCC中占主导地位的突变谱.
- 确定了mtDNA的反复发生的变化.
- 需要进一步的研究来验证这些mtDNA突变作为HNSCC的诊断和预后生物标志物的潜力.
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