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食道状细胞癌的早期诊断标记:拷贝数变异基因识别和cfDNA检测

Jiamin Chen¹, Xi Liu¹, Zhihua Zhang¹

¹Department of Pathology, Institute of Clinical Pathology, Shantou University Medical College, Shantou, China.

Laboratory investigation; a journal of technical methods and pathology

|August 25, 2024

概括

通过在癌前阶段识别副本数变异 (CNA) 基因,提高食道状细胞癌 (ESCC) 的早期检测. 使用特定CNA基因的滴滴数字PCR模型显示,早期ESCC查的准确性很高.

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:

食道状细胞癌 (ESCC) 由于缺乏早期诊断标志物,死亡率很高.
在ESCC中,由于其突变异质性,拷贝数变化 (CNA) 是常见的.
鉴定食道状发育不良 (ESD) 中的CNA,这是癌前阶段,是早期检测的关键.

研究的目的:

在ESCC开发阶段调查CNA个人资料.
用液体活检识别和验证CNA基因,用于早期ESCC检测.
开发用于早期ESCC查的预测模型.

主要方法:

现有数据库和先前调查的综合分析.
有针对性的测序来选择潜在的早期检测基因.
基于滴滴的数字PCR (ddPCR) 用于验证和模型建立.

主要成果:

在ESD中观察到广泛的CNA,类似于ESCC.
在ESD和ESCC病变中,有40个CNA基因被确定为频繁存在.
使用PIK3CA,SOX2,EGFR,MYC和CCND1的组合预测模型在早期ESCC查中实现了AUC>0.92.

结论:

在早期ESCC查中,CNA基因非常有价值.
开发的预测模型显示了早期检测和人口查的显著有效性.
这些发现支持使用CNA分析进行ESCC的辅助诊断.

关键词:

副本编号变更更改编号变更食管状细胞癌的癌症液体活检活检液体活检癌前病变是一种癌前病变.有针对性的测序.

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