doi:10.3969/j.issn.1004-583X.2026.03.015

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References 48

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检测技术	敏感度	特异度	检测范围	优势	局限性	适用场景
微滴式dPCR	0.001%~0.01%	95%~99%	已知突变位点	操作简便、成本低	仅检测已知突变	MRD监测、耐药突变检测
珠基乳液扩增与磁珠分选数字聚合酶链式反应	0.001%~0.01%	96%~99%	多个已知突变位点	可同时检测多靶点	通量较低	多突变位点联合检测
癌症个体化深度测序	0.0001%~0.001%	97.0%~99.5%	靶向基因 Panel	高敏感度、高特异度	依赖探针设计	全景式分子分型、MRD 监测
Ig基因重排测序	0.001%~0.01%	98.0%~99.5%	Ig基因重排	针对B细胞肿瘤特异性强	仅适用于B细胞肿瘤	B细胞淋巴瘤、MM的MRD检测
全基因组/全外显子组测序	0.1%~1%	90%~95%	全基因组/全外显子组	检测所有类型变异	成本高、数据量大	发现新突变、拷贝数变异分析
甲基化NGS	0.01%~0.1%	94%~98%	甲基化位点	区分肿瘤与正常组织来源	数据分析复杂	分子分型、预后评估

检测技术	敏感度	特异度	检测范围	优势	局限性	适用场景
微滴式dPCR	0.001%~0.01%	95%~99%	已知突变位点	操作简便、成本低	仅检测已知突变	MRD监测、耐药突变检测
珠基乳液扩增与磁珠分选数字聚合酶链式反应	0.001%~0.01%	96%~99%	多个已知突变位点	可同时检测多靶点	通量较低	多突变位点联合检测
癌症个体化深度测序	0.0001%~0.001%	97.0%~99.5%	靶向基因 Panel	高敏感度、高特异度	依赖探针设计	全景式分子分型、MRD 监测
Ig基因重排测序	0.001%~0.01%	98.0%~99.5%	Ig基因重排	针对B细胞肿瘤特异性强	仅适用于B细胞肿瘤	B细胞淋巴瘤、MM的MRD检测
全基因组/全外显子组测序	0.1%~1%	90%~95%	全基因组/全外显子组	检测所有类型变异	成本高、数据量大	发现新突变、拷贝数变异分析
甲基化NGS	0.01%~0.1%	94%~98%	甲基化位点	区分肿瘤与正常组织来源	数据分析复杂	分子分型、预后评估

肿瘤类型	核心应用场景	关键分子标志物/技术	临床价值
淋巴瘤
弥漫大B细胞淋巴瘤	分子分型、预后评估、MRD监测	MYD88/CD79B/EZH2 突变、癌症个体化深度测序	早期预测治疗反应、复发预警(提前 4~6 个月)
经典霍奇金淋巴瘤	肿瘤负荷评估、MRD 监测	STAT6/GNA13/SOCS1 突变、相位变异富集检测测序	补充正电子发射断层显像/计算机断层扫描提升 MRD 敏感度
滤泡淋巴瘤	MRD 监测、组织学转化预警	EZH2/CREBBP突变、Ig重排	动态评估惰性淋巴瘤进展风险
套细胞淋巴瘤	疗效预测、耐药监测	CCND1-IGH融合、ATM突变	指导靶向治疗方案调整
结外NK/T 细胞淋巴瘤	诊断、预后评估	甲基化谱、爱泼斯坦-巴尔病毒相关突变	解决诊断标志物缺乏问题
MM	肿瘤负荷评估、MRD 监测、髓外复发监测	Ig 重排、拷贝数变异、TP53 突变	无创替代骨髓活检、监测髓外复发
白血病
AML	分子分型、MRD 监测	NPM1/IDH1/2/FLT3 突变、5hmC签名	动态评估克隆进化、早期复发预警
急性淋巴细胞白血病	MRD 监测、中枢神经系统侵犯评估	BCR-ABL1融合、IKZF1缺失	评估髓外病变风险
慢性淋巴细胞白血病	疾病进展评估、Richter 转化预警	IGHV/TP53/SF3B1突变	区分惰性与进展性急性淋巴细胞白血病

肿瘤类型	核心应用场景	关键分子标志物/技术	临床价值
淋巴瘤
弥漫大B细胞淋巴瘤	分子分型、预后评估、MRD监测	MYD88/CD79B/EZH2 突变、癌症个体化深度测序	早期预测治疗反应、复发预警(提前 4~6 个月)
经典霍奇金淋巴瘤	肿瘤负荷评估、MRD 监测	STAT6/GNA13/SOCS1 突变、相位变异富集检测测序	补充正电子发射断层显像/计算机断层扫描提升 MRD 敏感度
滤泡淋巴瘤	MRD 监测、组织学转化预警	EZH2/CREBBP突变、Ig重排	动态评估惰性淋巴瘤进展风险
套细胞淋巴瘤	疗效预测、耐药监测	CCND1-IGH融合、ATM突变	指导靶向治疗方案调整
结外NK/T 细胞淋巴瘤	诊断、预后评估	甲基化谱、爱泼斯坦-巴尔病毒相关突变	解决诊断标志物缺乏问题
MM	肿瘤负荷评估、MRD 监测、髓外复发监测	Ig 重排、拷贝数变异、TP53 突变	无创替代骨髓活检、监测髓外复发
白血病
AML	分子分型、MRD 监测	NPM1/IDH1/2/FLT3 突变、5hmC签名	动态评估克隆进化、早期复发预警
急性淋巴细胞白血病	MRD 监测、中枢神经系统侵犯评估	BCR-ABL1融合、IKZF1缺失	评估髓外病变风险
慢性淋巴细胞白血病	疾病进展评估、Richter 转化预警	IGHV/TP53/SF3B1突变	区分惰性与进展性急性淋巴细胞白血病

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