在口腔癌患者的唾液中检测突变
Ahmed A Ahmed1, Mateja Sborchia1, Hannah Bye2
1School of Cancer and Pharmaceutical Sciences, Faculty of Life Sciences and Medicine, Guy's Cancer Centre, King's College London, London SE1 9RT, United Kingdom.
Oral oncology
|February 27, 2024
概括
使用唾液检测口腔状细胞癌 (OSCC) 是可行的. 在82%的患者的唾液中发现了瘤衍生的突变,显示了早期OSCC复发检测的潜力.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子诊断学 分子诊断
背景情况:
- 头部和部状细胞癌 (HNSCC) 的发病率正在上升,存活率较低,局部复发频繁.
- 传统的成像与早期检测HNSCC复发作斗争.
- 基于唾液的检测为早期诊断和监测提供了一个有希望的替代方案.
研究的目的:
- 评估使用唾液用于检测口腔状细胞癌 (OSCC) 的可行性.
- 在唾液样本中识别瘤衍生的体质突变.
- 为证明唾液在OSCC中作为液体活检的实用性提供证据.
主要方法:
- 收集了OSCC患者治疗前的瘤,血液和唾液.
- 在瘤DNA上进行全外体或基因面板测序,以确定突变.
- 应用基因面板测序对配对的唾液样本来检测瘤突变.
主要成果:
- 在初级瘤中,TP53和FAT1是最常发生突变的基因.
- 唾液基因组测序检测到11名 (82%) 的OSCC患者中有9名的瘤突变.
- 在唾液中检测到突变的平均变异性等位基因频率为0.025.5.
结论:
- 在高频率的OSCC患者的唾液中可以检测到体质突变.
- 唾液作为一个可行的液体活检OSCC,无论疾病的阶段或地点.
- 这种方法有可能改善OSCC复发的早期检测.
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