在3929个HPV阳性宫细胞的体性突变与感染结果和HPV类型相关
Maisa Pinheiro1, Nicolas Wentzensen1, Michael Dean1,2
1Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.
宫细胞的体质突变与HPV驱动的癌症有关. 这些热点突变在诊断前几年被检测出来,可以作为侵袭性宫癌 (ICC) 的早期诊断生物标志物.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 病毒学 病毒学
背景情况:
- 侵袭性宫癌 (ICC) 与人类乳头瘤病毒 (HPV) 感染有关.
- ICC 发育的分子基础,特别是体质突变的作用,需要进一步研究.
研究的目的:
- 研究宫细胞体突变的检测,时间和HPV类型特异性.
- 使用脱皮的宫细胞识别ICC的潜在诊断生物标志物.
主要方法:
- 对3929个HPV阳性脱皮的宫细胞样本进行深度向测序.
- 分析包括来自宫部查参与者的ICC病例,癌前和HPV阳性对照.
主要成果:
- 与对照组 (2,6%) 相比,热点突变的一个子集在癌前 (10.2%) 和ICC (25.7%) 中明显更为普遍.
- 突变模式因HPV类型而异,HPV18/45阳性ICC比HPV16阳性ICC显示更多的多重热点突变.
- 热点突变在癌症诊断前长达6年的时间可以检测到,在ICC中变异性等位基因分数较高.
结论:
- 热点突变与ICC致癌有关,其患病率随病变严重程度的增加而增加.
- 在去皮的宫细胞中的体质突变可以在ICC诊断前几年被检测出来.
- 脱皮的宫细胞具有开发ICC的新型诊断生物标志物的潜力.
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