Combined detection of KRAS, NRAS, BRAF and PIK3CA mutations in the plasma and tumor tissues of colorectal cancer patients
10.3760/cma.j.issn.0529-5807.2019.05.008
- VernacularTitle: 联合检测结直肠癌患者血浆及组织中KRAS、NRAS、BRAF及PIK3CA基因突变情况
- Author:
Xiaona LIU
1
;
Zhuang TIAN
1
;
Xiaofei WEI
1
;
Quan WANG
2
;
Jiaxin ZHANG
2
;
Meishan JIN
1
;
Xiumei DUAN
1
Author Information
1. Department of Pathology, the First Hospital of Jilin University, Changchun 130021, China
2. Department of Gastrointestinal Surgery, the First Hospital of Jilin University, Changchun 130021, China
- Publication Type:Journal Article
- Keywords:
Colorectal neoplasms;
DNA, neoplasm;
DNA mutational analysis;
Genes, ras;
Molecular targeted therapy
- From:
Chinese Journal of Pathology
2019;48(5):373-377
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the concordance of KRAS, NRAS, BRAF and PIK3CA gene mutations detected in plasma and matched tumor tissues in colorectal cancer patients, in order to provide good evidences to support plasma could be a potential surrogate of tumor tissue for gene mutation test.
Methods:One hundred and seventy-five cases of colorectal cancer were collected at the First Hospital of Jilin University, from October 2016 to October 2017.There were 101 males and 74 females, their ages ranged from 28 to 85 years,with median age of 59 years. The KRAS, NRAS, BRAF and PIK3CA gene mutations in the plasma and paired tumor specimens of all patients were detected by next generation sequencing.
Results:The results of tissue samples test were gold standard. Comparison of the four genes showed that concordance rates between plasma and tissue samples were 81.1%(Kappa=0.543), 99.4%(Kappa=0.886), 99.4% (Kappa=0.886) and 97.7%(Kappa=0.714) respectively for KRAS, NRAS, BRAF and PIK3CA. The plasma detection rates of these genes were related to tumor stage(P=0.001), but not to gender(P=0.468) and age(P=1.000) of patients.
Conclusions:The study shows a high concordance of KRAS, NRAS, BRAF and PIK3CA gene mutations in plasma against mutation status in tumor tissue. In colorectal cancer, tumor tissue remains the best specimen for gene detection. However, patients from tumor tissue specimens cannot be obtained, especially those with advanced metastases, plasma can be used instead of tissue to detect the mutation status of KRAS, NRAS, BRAF and PIK3CA to guide targeted therapy.
