Fecal gene detection based on next generation sequencing for colorectal cancer diagnosis  

作　　者：Si-Yu He Ying-Chun Li Yong Wang Hai-Lin Peng Cheng-Lin Zhou Chuan-Meng Zhang Sheng-Lan Chen Jian-Feng Yin Mei Lin 

机构地区：[1]Department of Clinical Laboratory,Taizhou People's Hospital(Postgraduate Training Base of Dalian Medical University),Taizhou 225300,Jiangsu Province,China [2]Department of Clinical Laboratory,The First People's Hospital of Tianmen City,Tianmen 431700,Hubei Province,China [3]Department of General Surgery,Taizhou People's Hospital(Postgraduate Training Base of Dalian Medical University),Taizhou 225300,Jiangsu Province,China [4]Central Laboratory,Taizhou People's Hospital(Postgraduate training base of Dalian Medical University),Taizhou 225300,Jiangsu Province,China [5]Department of Laboratory,Taizhou Genewill Medical Laboratory Company Limited,Taizhou 225300,Jiangsu Province,China [6]Department of Laboratory,Jiangsu CoWin Biotech Co.,Ltd.,Taizhou 225300,Jiangsu Province,China

出　　处：《World Journal of Gastroenterology》2022年第25期2920-2936,共17页世界胃肠病学杂志（英文版）

基　　金：Supported by Taizhou Social Development Plan,No.TS202004;Natural Science Foundation of Nanjing University of Chinese Medicine China,No.XZR2020093;Taizhou People's Hospital Medical Innovation Team Foundation,No.CXTDA201901.

摘　　要：BACKGROUND Colorectal cancer(CRC)is one of the most common malignancies worldwide.Given its insidious onset,the condition often already progresses to advanced stage when symptoms occur.Thus,early diagnosis is of great significance for timely clinical intervention,efficacy enhancement,and prognostic improvement.Featuring high throughput,fastness,and rich information,next generation sequencing(NGS)can greatly shorten the detection time,which is a widely used detection technique at present.AIM To screen specific genes or gene combinations in fecal DNA that are suitable for diagnosis and prognostic prediction of CRC,and to establish a technological platform for CRC screening,diagnosis,and efficacy monitoring through fecal DNA detection.METHODS NGS was used to sequence the stool DNA of patients with CRC,which were then compared with the genetic testing results of the stool samples of normal controls and patients with benign intestinal disease,as well as the tumor tissues of CRC patients.Specific genes or gene combinations in fecal DNA suitable for diagnosis and prognostic prediction of CRC were screened,and their significances in diagnosing CRC and predicting patients'prognosis were comprehensively evaluated.RESULTS High mutation frequencies of TP53,APC,and KRAS were detected in the stools and tumor tissues of CRC patients prior to surgery.Contrastively,no pathogenic mutations of the above three genes were noted in the postoperative stools,the normal controls,or the benign intestinal disease group.This indicates that tumor-specific DNA was detectable in the preoperative stools of CRC patients.The preoperative fecal expression of tumor-associated genes can reflect the gene mutations in tumor tissues to some extent.Compared to the postoperative stools and the stools in the two control groups,the pathogenic mutation frequencies of TP53 and KRAS were significantly higher for the preoperative stools(χ^(2)=7.328,P<0.05;χ^(2)=4.219,P<0.05),suggesting that fecal TP53 and KRAS genes can be used for CRC screening,diagnosis,an

关 键 词：Colorectal cancer FECES Next generation sequencing DIAGNOSIS GENE 

分 类 号：R735.34[医药卫生—肿瘤]