血浆ctDNA检测在结直肠癌诊疗中的应用

doi:10.3969/j.issn.1673-8640.2020.09.022

检验医学 ›› 2020, Vol. 35 ›› Issue (9): 948-951.DOI: 10.3969/j.issn.1673-8640.2020.09.022

血浆ctDNA检测在结直肠癌诊疗中的应用

陈馨宁, 邬升超, 郭玮, 王蓓丽()

复旦大学附属中山医院检验科,上海 200032

收稿日期:2019-05-14 出版日期:2020-09-30 发布日期:2020-09-29
作者简介:null
作者简介：陈馨宁,女,1996年生,学士,技师,主要从事分子诊断相关研究。
基金资助:
国家自然科学基金项目（81572064）;国家自然科学基金项目（81772263）;上海市卫生计生系统重要薄弱学科建设项目（2015ZB0201）;上海市科学技术委员会基金项目（16411952100）;上海市临床重点专科建设项目（医学检验科）;复旦大学附属中山医院院内临床研究项目（2018ZSLC05）;2019厦门市医疗卫生重点项目（YDZX20193052000002）

Plasma ctDNA determination in the diagnosis and treatment of colorectal cancer

CHEN Xinning, WU Shengchao, GUO Wei, WANG Beili()

Department of Clinical Laboratory,Zhongshan Hospital,Fudan University,Shanghai 200032,China

Received:2019-05-14 Online:2020-09-30 Published:2020-09-29

摘要/Abstract

摘要：

结直肠癌的发病率和死亡率逐年增加。一方面是因为缺乏合适的早期筛查手段,肠镜检查患者依从率并不理想;另一方面是由于治疗方式的局限性,部分患者的病灶无法通过手术根治,化疗、放疗效果存在不确定因素,而分子靶向治疗也有适应人群的限制。通过分子诊断技术检测患者血浆循环肿瘤DNA（ctDNA）,可对患者的早期筛查、预后和对化疗药物的反应进行分析,从而指导临床治疗。文章围绕血浆ctDNA检测在结直肠癌诊疗中的应用作一综述。

关键词: 循环肿瘤DNA, 结直肠癌, 靶向治疗

Abstract:

The incidence and mortality of colorectal cancer are increasing. It is because of the lack of suitable means for early screening,and the compliance of colonoscopy among patients is not ideal. Another reason is the limitations of treatment methods,and some patients' lesions can not be resected. There are uncertainties in the efficiency of chemotherapy and radiotherapy,and targeted therapy is only available for certain population. Through molecular diagnostic techniques,plasma circulating tumor DNA（ctDNA） can be determined,and early screening,prognosis and chemotherapeutic drug response can be performed,which can guide clinical treatment. The review focuses on the determination of plasma ctDNA and its application in the diagnosis and treatment of colorectal cancer.

Key words: Circulating tumor DNA, Colorectal cancer, Targeted therapy

中图分类号:

R446.7

陈馨宁, 邬升超, 郭玮, 王蓓丽. 血浆ctDNA检测在结直肠癌诊疗中的应用[J]. 检验医学, 2020, 35(9): 948-951.

CHEN Xinning, WU Shengchao, GUO Wei, WANG Beili. Plasma ctDNA determination in the diagnosis and treatment of colorectal cancer[J]. Laboratory Medicine, 2020, 35(9): 948-951.

图/表 1

参考文献 32

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检测方法	灵敏度/%	检测周期/d	优势
BEAMing	0.01	7~10	绝对定量
MALDI-TOF	0.10	1~2	中等通量,对样本投入量要求低
ARMS-PCR	0.01~0.20	1	有获批的商品化试剂盒
ddPCR	0.01	<1	绝对定量,对样本投入量要求低,重复性好
NGS	0.10~0.50	8~10	高通量,可以检测未知突变

检测方法	灵敏度/%	检测周期/d	优势
BEAMing	0.01	7~10	绝对定量
MALDI-TOF	0.10	1~2	中等通量,对样本投入量要求低
ARMS-PCR	0.01~0.20	1	有获批的商品化试剂盒
ddPCR	0.01	<1	绝对定量,对样本投入量要求低,重复性好
NGS	0.10~0.50	8~10	高通量,可以检测未知突变

血浆ctDNA检测在结直肠癌诊疗中的应用

Plasma ctDNA determination in the diagnosis and treatment of colorectal cancer

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