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基因测序技术发展及其在肿瘤液体活检中的应用与挑战

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基因测序技术在恶性肿瘤的早期筛查、伴随诊断、分子分型以及预后评估中扮演日益重要的角色.本期"肿瘤与测序"重点号邀请了检验医学领域知名专家,围绕肿瘤测序技术的发展、应用与展望以及基于DNA酶类生物传感器的新型肿瘤液体活检技术等前沿理论进行了详细介绍.此外,各种下一代测序技术(NGS)以及液体活检技术在实体或血液系统肿瘤中的应用研究也蓬勃涌现.值得关注的是,基于循环肿瘤DNA(ctDNA)和循环肿瘤细胞(CTC)分析的液体活检技术的临床应用发展迅猛,有望作为无创检测分析工具,助力肿瘤精准医疗.针对现有ctDNA NGS的不足,未来可以通过靶向CTC-DNA来实现更精准的抗肿瘤靶向诊疗.肿瘤基因测序的发展之路上还面临诸多挑战,只有正视并攻克这些难题,才能使其真正应用于临床实验室,以推动检验医学更好地服务于临床诊疗.
Development of gene sequencing technology and its application and challenges in tumor liquid biopsy
Sequencing is becoming increasingly important in the early detection,companion diagnostics,molecular subtyping,and prognosis assessment of malignant tumors.In this special column of'tumors and sequencing',renowned experts in the field of laboratory medicine elaborate on cutting-edge concepts,technologies,and applications related to drug target gene and polymorphism analysis,novel techniques of liquid biopsy,and the clinical cases of mutated genes in solid tumors and hematoma.Notably,liquid biopsy techniques based on circulating tumor DNA(ctDNA)and circulating tumor cells(CTCs)are advancing rapidly,offering the potential to serve as non-invasive diagnostic tools that facilitate precision medicine in oncology.To address the limitations of current ctDNA next-generation sequencing(NGS),future developments may focus on NGS targeting CTC-DNA for more precise tumor-targeted therapy.Despite the progress,challenges remain in integrating oncogene sequencing into clinical laboratories and advancing laboratory medicine.Addressing these challenges is crucial to improving public health.

NeoplasmsSequencingLiquid biopsyCirculating tumor DNACirculating tumor cell

谢梦晓、潘世扬

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南京医科大学第一附属医院检验学部,国家医学检验临床医学研究中心分中心,南京 210029

肿瘤 测序 液体活检 循环肿瘤DNA 循环肿瘤细胞

2024

中华检验医学杂志
中华医学会

中华检验医学杂志

CSTPCD北大核心
影响因子:1.402
ISSN:1009-9158
年,卷(期):2024.47(11)