实用肿瘤学杂志 ›› 2016, Vol. 30 ›› Issue (2): 118-122.doi: 10.11904/j.issn.1002-3070.2016.02.005

• 论著 • 上一篇    下一篇

大肠肿瘤患者粪便和组织中APC、p53和K-ras基因突变的研究

钟选芳, 肖丹, 李琛, 许岸高, 张晓慧, 甘爱华   

  1. 广东惠州市第一人民医院消化内科(惠州 516001)
  • 收稿日期:2015-07-10 出版日期:2016-04-28 发布日期:2016-04-28
  • 通讯作者: 许岸高,E-mail:angao62@21cn.com
  • 作者简介:钟选芳,女,(1980-),硕士,副主任医师,从事消化道肿瘤基础与临床工作的研究
  • 基金资助:
    广东省医学科学技术研究基金项目(B2011340)

Study on APC,p53 and K-ras genes mutation of tissues and feces in the patients with colon tumor

ZHONG Xuanfang, XIAO Dan, LI Chen, XU Angao, ZHANG Xiaohui, GAN Aihua   

  1. Department of Gastroenterology,Huizhou First Hospital,Huizhou 516001,China
  • Received:2015-07-10 Online:2016-04-28 Published:2016-04-28

摘要: 目的 研究大肠肿瘤患者粪便和组织中APC、p53和K-ras基因突变情况,探讨粪便DNA检测用于大肠肿瘤诊断和筛查的可行性及临床意义。方法 选择2011年11月1日—2012年8月1日在惠州市第一人民医院行机会性筛查的46例大肠癌,60例大肠腺瘤患者和30例正常者的粪便和组织DNA,应用PCR-SSCP方法检测粪便和组织中APC、p53和K-ras基因突变情况。结果 大肠癌组(CRC组)、大肠腺瘤组(CRA组)和正常组粪便APC、p53、K-ras的突变率分别为58.7%(27/46)、65.2%(30/46)和60.9%(28/46),20.0%(12/60)、25.0%(15/60)和23.3%(14/60),3.33%(1/30)、0%(0/30)和0%(0/30),组织突变率分别为63.0%(29/46)、69.6%(32/46)和63.0%(29/46),25.0%(15/60)、26.7%(16/60)和26.7%(16/60),0%(0/30)、0%(0/30)和0%(0/30)。在粪便中均能检测到与肿瘤组织相应的基因突变,大肠癌组和大肠腺瘤组粪便和组织APC、p53和K-ras基因突变率一致性检验结果Kappa值分别为0.818(P<0.001)、0.901(P<0.001)和0.862(P<0.001),0.857(P<0.001)、0.870(P<0.001)和0.822(P<0.001),一致性均极好。结论 粪便DNA检测有望成为一种有效的无创的大肠肿瘤早期诊断和筛查方法,可用于机会性筛查。

关键词: 粪便DNA, 组织DNA, 大肠肿瘤, 机会性筛查

Abstract: Objective To investigate the feasibility and clinical significance of fecal DNA tests for colon tumor diagnosis and screening,we inspected the mutations of APC,p53 and K-ras genes in the tissue and feces of patients with colorectal tumor.Methods We collected 46 patients with colorectal cancer(CRC),60 patients with colorectal adenomas(CRA)and 30 cases of normal person in Huizhou First People Hospital in Guangdong Province from Nov.2011 to Aug.2012.Then all the tumor tissues and feces of these people were detected the mutation rate about the APC,p53 and K-ras genes using polymerase chain reaction single strand conformation polymorphism analysis method(PCR-SSCP).Results The mutation rates of APC,p53,K-ras genes of feces in CRC group,CRA group and normal group were 58.7%(27/46),65.2%(30/46)and 60.9%(28/46),20.0%(12/60),25.0%(15/60)and 23.3%(14/60),3.33%(1/30),0%(0/30)and 0%(0/30),respectively.However the mutation rate in tissues were 63.0%(29/46),69.6%(32/46)and 63.0%(29/46),25.0%(15/60),26.7%(16/60)and 26.7%(16/60),0%(0/30),0%(0/30)and 0%(0/30).Corresponding mutations could be found in feces and tumor tissues.Consistency checking for mutations rate in feces and tumor tissues of CRC group and CRA group showed that the Kappa value were 0.818(P<0.001),0.901(P<0.001),0.862(P<0.001)and 0.857(P<0.001),0.870(P<0.001),0.822(P<0.001).It means an excellent consistency.Conclusion Fecal DNA testing is expected to become an effective noninvasive colon tumor early diagnosis and screening method.

Key words: Fecal DNA, Tissular DNA, Colorectal Tumor, Opportunity Screening

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