摘要
目的探讨全基因测序技术在宫颈癌诊断中的应用效果。方法将200例宫颈病变患者分为模型组62例和验证组138例。所有患者均接受宫颈细胞的全基因组序列分析,基于染色体拷贝数变异的分析结果构建C-Score模型,使用验证组的数据对构建的C-Score模型进行验证,评估其在实际应用中的有效性和准确性。结果宫颈癌患者宫颈脱落细胞及肿瘤组织的染色体测序结果显示,染色体拷贝数不断变化,且肿瘤细胞与宫颈脱落细胞染色体拷贝数的变异表现出一致性。通过对模型组宫颈鳞状细胞癌样本的检测发现,第3条、第5条、第11条染色体上存在最多的拷贝数变异,根据该拷贝数变异,可以成功建立C-Score模型。验证组构建的C-Score模型诊断宫颈癌的灵敏度为94.1%,特异度为96.8%,曲线下面积为0.94。所有患者构建的C-Score模型诊断宫颈癌的灵敏度提高到了97.2%,特异度提高到了97.4%,曲线下面积提高到了0.98。结论基于全基因测序技术的宫颈癌诊断方法具有较高的准确性和可行性,可以为临床提供更有效的诊断手段。
Objective To explore the application effect of whole gene sequencing technology in the diagnosis of cervical cancer.Method Two hundreds patients with cervical lesions were divided into model group(62 cases)and validation group(138 cases).All patients received whole genome sequence analysis of cervical cells,and the C-Score model was constructed based on the analysis results of chromosome copy number variation.The constructed C-Score model was validated using the data of the validation group to evaluate its effectiveness and accuracy in practical application.Result Chromosome sequencing results of cervical exfoliated cells and tumor tissues from patients with cervical cancer showed that the chromosome copy number was constantly changing,and the variation of chromosome copy number between tumor cells and cervical exfoliated cells showed consistency.Through the detection of cervical squamous cell carcinoma samples in the model group,it was found that there were the most copy number variations on chromosomes 3rd,5th and 11th,and the C-Score model could be successfully established according to the copy number variation.The sensitivity and specificity of the C-Score model constructed in the validation group were 94.1%and 96.8%,respectively,and the area under the curve was 0.94.The sensitivity and specificity of the C-Score model constructed in all patients for the diagnosis of cervical cancer were increased to 97.2%and 97.4%,respectively,and the area under the curve was increased to 0.98.Conclusion The diagnostic method of cervical cancer based on whole gene sequencing technology has high accuracy and feasibility,and can provide a more effective diagnostic method for clinical practice.
作者
孟超
邵瑜
石蕊
李丹丹
MENG Chao;SHAO Yu;SHI Rui;LI Dandan(Department of Health Care,Beijing Haidian Maternal and Child Health Hospital,Beijing 100080,China)
出处
《癌症进展》
2024年第7期779-782,共4页
Oncology Progress
基金
吴阶平医学基金会临床科研专项基金(320.6750.2022-03-38)。
关键词
全基因测序技术
宫颈癌
基因表达谱
筛查
whole gene sequencing technology
cervical cancer
gene expression profiling
screening
