摘要
目的评估多模板液态活检技术在三阴性乳癌基因突变检测中的应用价值,以利于临床及时采取措施对病人进行干预。方法分析美国Cynvenio公司对211例三阴性乳癌病人进行游离DNA(cfDNA)和循环肿瘤细胞(CTC)测序的结果。采用McNemer检验及Kappa值分析其检测结果的一致性。结果 77.25%的三阴性乳癌病人能在基因检测中发现突变,TP53、PIK3CA及EGFR为检出率最高的突变类型。所有出现复发的病人均发现有cfDNA或(和)CTC突变。同一病人检测cfDNA与CTC能检出不同的突变。结论采用多模板液态活检技术对三阴性乳癌进行连续监测,能够更完整地反映病人的基因突变情况,以对病人的复发或转移风险做出更准确评估。
Objective To investigate the value of serial multi-template liquid biopsies in gene mutation detection among patients with triple-negative breast cancer(TNBC),since it may help provide timely clinical intervention for patients.Methods The sequencing results for the cell free DNA(cfDNA)andcirculatingtumorcells(CTCs)from 211 TNBC patientsobtained by Cynvenio Biosystems,Inc.were analyzed.The McNemar test and Kappa test were used to test the consistency of test results.Results(ene mutations were found in 77.25%of the enrolled TNBC patients.The most common mutations were those in TP53,PIK3CA,and EGFR.All the patients who had recurrence of TNBC displayed mutations in cfDNA,CTC,or both.Different gene mutations in of DNA and CTC could be found in the samples from the same patient.Continuous monitoring of TNBC patients usingserial multi-template liquid biopsies can reflect the patients'genetic mutations more completely,so as to evaluate the risk of cancer relapse and metastasis more accurately.
作者
陈伟荣
谢映明
黄昊晖
黄踔基
叶莘
张俊成
PAUL Dempsey
CHEN Weirong;XIE Yingyue;HUANG Haohui;HUANG Chuoji;YE Zi;ZHANG Juncheng;PAUL Dempsey(Department of Breast Surgery,Zhuhai Maternity and Child Care,Zhuhai,519000,China)
出处
《精准医学杂志》
2018年第1期38-41,共4页
Journal of Precision Medicine
关键词
乳腺肿瘤
液态活检
肿瘤循环细胞
DNA突变分析
突变
诊断
预后
Breast neoplasms
Liquid biopsy
Neoplasm circulating cells
DNA mutational analysis
Mutation
Diagnosis
Prognosis
作者简介
[通讯作者]张俊成,Email:zhang.juncheng@livzoncynvenio.cn
