• 论著 •

转移性结直肠癌患者ctDNA基因突变检测方法的比较及影响因素分析

1. 1. 复旦大学附属中山医院检验科，上海 200032
2. 复旦大学附属中山医院厦门医院检验科，福建 厦门 361015
• 出版日期:2021-03-30 发布日期:2021-04-01
• 通信作者: 郭　玮 E-mail: guo.wei@zs-hospital.sh.cn
• 基金资助:
国家自然科学基金（81772263，81972000，81902139）；2019厦门市医疗卫生重点项目（YDZX20193502000002）；复旦大学附属中山医院临床研究专项基金（2018ZSLC05）；上海市临床重点专科建设项目（医学检验科）。

Comparison of detection methods and analysis of influencing factors of somatic mutation in plasma of metastatic colorectal cancer patients

CHEN Xinning 1 , HUANG Fei 1 , SHEN Minna 1 , YANG Yihui 1 , WANG Beili 1,2 , GUO Wei 1,2

1. 1. Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai 200032, China; 2. Department of Laboratory Medicine, Xiamen Branch, Zhongshan Hospital, Fudan University. Xiamen 361015, Fujian Province, China
• Published:2021-03-30 Online:2021-04-01
• Contact: GUO Wei E-mail: guo.wei@zs-hospital.sh.cn

Abstract: Background and purpose: Colorectal cancer is one of the common gastrointestinal tumors. The incidence and mortality of colorectal cancer in China are high. Circulating tumor DNA (ctDNA) has a certain value in the whole course of the medical management of patients with colorectal cancer as a non-invasive detection marker. The status of related gene mutations in plasma ctDNA of patients with metastatic colorectal cancer (mCRC) were detected and analyzed to assist in making personalized treatment plan for patients. Methods: This study included 30 patients with mCRC who were treated in Zhongshan Hospital, Fudan University from June 2016 to January 2017, using next generation sequencing (NGS) and nucleic acid mass spectrometry to detect ctDNA mutations, and compared the performance of these two platforms. The above two platforms were used to detect common mutations in gene KRAS, NRAS, BRAF and PIK3CA from ctDNA extracted from plasma of mCRC patients. Meanwhile, the results obtained from two platforms were compared with the results combining the history, biopsy and droplet digital polymerase chain reaction (ddPCR) results to evaluate the detection coincidence rate, specificity and sensitivity of these two platforms. Results: The coincidence rate of nucleic acid mass spectrometry was 76.67%, the sensitivity was 86.67%, and the specificity was 66.67%. The coincidence rate of NGS was 86.67%, the sensitivity was 83.33%, and the specificity was 91.67%. Conclusion: Both platforms can be used to detect common mutations in ctDNA, but the negative predictive value of NGS is better than that of MALDI-TOF. Meanwhile, the mutation abundance of mutation sites is related to whether the patient’s primary tumor is resected and whether the patient has been treated.