循环肿瘤DNA检测在胃癌诊疗中的应用现状

doi:10.3969/j.issn.1673-8640.2022.09.017

摘要/Abstract

摘要：

胃癌是常见的恶性肿瘤之一,由于其具有高度异质性,患者5年生存率<30%,因此需要寻找新的、可靠的生物标志物来提高胃癌的早期诊断率和复发转移的预测准确率,从而更好地指导治疗,并改善预后。循环肿瘤DNA（ctDNA）是从凋亡坏死的肿瘤细胞中释放的游离DNA,携带与肿瘤相关的基因突变信息。ctDNA检测一般采用液体活检技术,可作为生物标记物对胃癌实施动态监测,具有安全、微创、方便、可重复等优点,在早期诊断、病情监测及个性化治疗方面具有重要的临床意义。文章对ctDNA的生物学特征、检测方法及其在胃癌诊断、治疗及预后评估中的作用进行阐述,探讨ctDNA在胃癌中的临床应用价值。

关键词: 循环肿瘤DNA, 胃癌, 生物标志物, 液体活检

Abstract:

Gastric cancer is one of the most common malignant tumors in the world. Due to its high heterogeneity,the 5-year survival rate is <30%. In the future,it is needed to find new and reliable biological indicators to improve the early diagnosis rate and the prediction accuracy of recurrence and metastasis of gastric cancer,so as to guide the treatment and improve the prognosis. Circulating tumor DNA（ctDNA） is a kind of free DNA released from apoptotic and necrotic tumor cells,which carries the mutation information related to tumor. The ctDNA was usually determined by liquid biopsies. It can be used as a biomarker for the dynamic monitoring of gastric cancer. It is safe,minimally invasive,convenient and repeatable. It has clinical significance in early diagnosis,disease monitoring and individualized treatment. This review expounds the biological characteristics,detection methods and the role of ctDNA in the diagnosis,treatment and prognosis evaluation of gastric cancer,and it discusses the clinical application value of ctDNA in gastric cancer.

Key words: Circulating tumor DNA, Gastric cancer, Biomarker, Liquid biopsy

中图分类号:

R446.7

王芮, 李朝燕, 赵爱光. 循环肿瘤DNA检测在胃癌诊疗中的应用现状[J]. 检验医学, 2022, 37(9): 877-881.

WANG Rui, LI Zhaoyan, ZHAO Aiguang. Application of circulating tumor DNA detection in the diagnosis and treatment of gastric cancer[J]. Laboratory Medicine, 2022, 37(9): 877-881.

图/表 1

参考文献 37

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年份	文献	胃癌组/例	对照组/例	样本来源	变异方式	检测技术	突变基因	临床用途
2015年	MARTIGNANO等^[34]	60	30	血浆	突变	Droplet digital PCR	HER-2	治疗标志物
2015年	KWAK等^[35]	1	0	血浆、肿瘤组织	突变	NGS panel	MET	治疗标志物
2019年	MATHAI等^[33]	70	0	血浆、肿瘤组织	突变	NGS panel	HER-2	治疗标志物
2019年	MARTIGNANO等^[37]	277	0	血浆、肿瘤组织	突变	Mass ARRAY	TP53、PIK3CA、ERBB2、KRAS	诊断/预后的生物标志物

年份	文献	胃癌组/例	对照组/例	样本来源	变异方式	检测技术	突变基因	临床用途
2015年	MARTIGNANO等^[34]	60	30	血浆	突变	Droplet digital PCR	HER-2	治疗标志物
2015年	KWAK等^[35]	1	0	血浆、肿瘤组织	突变	NGS panel	MET	治疗标志物
2019年	MATHAI等^[33]	70	0	血浆、肿瘤组织	突变	NGS panel	HER-2	治疗标志物
2019年	MARTIGNANO等^[37]	277	0	血浆、肿瘤组织	突变	Mass ARRAY	TP53、PIK3CA、ERBB2、KRAS	诊断/预后的生物标志物