使用下一代测序来进行口腔上皮质质变形症和口腔状细胞癌的分子分析
Reshma Poothakulath Krishnan1, Deepak Pandiar1, Pratibha Ramani1
1Department of Oral Pathology and Microbiology, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, India.
Journal of stomatology, oral and maxillofacial surgery
|October 18, 2024
概括
下一代测序揭示了口腔状细胞癌 (OSCC) 和其前体病变中的多种基因突变. 识别这些口腔癌突变有助于个性化治疗规划和最小干预策略.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 口腔状细胞癌 (OSCC) 是一种普遍存在的头癌,通常是从癌前的口腔病变发展起来的.
- OSCC的特点是瘤抑制基因和调节细胞生长,迁移和亡的基因的突变.
研究的目的:
- 通过使用下一代测序 (NGS) 在印度人口中调查口腔上皮质发育不良和不同程度的OSCC的分子遗传特征.
主要方法:
- 在21个样本中的50个热点基因组上进行了NGS,包括不同级别的OSCC,严重的表皮质发育不良和正常的口腔粘膜.
- 使用STRING数据库进行了蛋白质-蛋白质相互作用分析,并通过UALCAN门户网站评估了甲基化概况.
主要成果:
- 在严重的上皮质发育不良和分化良好的OSCC中发现了TP53突变.
- 在高度差异化和中度差异化OSCC中观察到APC,FBXW7,CTNNB1,NRAS和PDGFRA的突变.
- 差异化不良的OSCC显示没有致病突变;所有分析的蛋白质都是相互关联的,与对照组相比没有发现显著的甲基化差异.
结论:
- 这项研究突出了OSCC等级的多种基因突变,为口腔癌的发展提供了洞察力.
- 识别特定突变可以指导OSCC患者开发向疗法和个性化治疗策略.
- 这些发现支持口腔瘤学中最小干预药物的发展.
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