改良Blocker PCR检测EGFR-TKI耐药后非小细胞肺癌血浆EGFR T790M突变的价值

目的探讨改良PCR（Blocker PCR）方法在晚期非小细胞肺癌（non-small-cell lung cancer,NSCLC）患者血浆游离DNA（cell free DNA,cfDNA）中检测继发EGFR T790 M突变的应用价值。方法采用Blocker PCR方法对127例表皮生长因子受体酪氨酸激酶抑制剂（epidermal growth factor receptor-tyrosine kinase inhibitor,EGFR-TKI）耐药后肺癌患者的血浆标本行EGFR敏感突变和T790 M突变检测,统计T790 M突变的检出率;为验证Blocker PCR血浆检测的可靠性,部...

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Published in复旦学报（医学版） Vol. 45; no. 1; pp. 45 - 51
Main Author 张美玲;李春;叶茂松;巩子英;张道允;张新
Format Journal Article
LanguageChinese
Published 复旦大学附属中山医院呼吸内科 上海200032%上海允英医疗科技有限公司 上海201216 2018
Subjects
Blocker
EGFR
PCR
T790M突变
游离DNA
非小细胞肺癌
游离DNA
EGFR T790M mutations
Blocker PCR
non-small-cell lung carcinoma
EGFR T790M突变
非小细胞肺癌
cell free DNA
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ISSN1672-8467
DOI10.3969/j.issn.1672-8467.2018.01.007

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Summary:目的探讨改良PCR（Blocker PCR）方法在晚期非小细胞肺癌（non-small-cell lung cancer,NSCLC）患者血浆游离DNA（cell free DNA,cfDNA）中检测继发EGFR T790 M突变的应用价值。方法采用Blocker PCR方法对127例表皮生长因子受体酪氨酸激酶抑制剂（epidermal growth factor receptor-tyrosine kinase inhibitor,EGFR-TKI）耐药后肺癌患者的血浆标本行EGFR敏感突变和T790 M突变检测,统计T790 M突变的检出率;为验证Blocker PCR血浆检测的可靠性,部分患者血浆标本行二代测序（next generation sequencing,NGS）和Blocker PCR配对比较;获得配对血浆和组织的病例行Blocker PCR配对检测。结果在127例采用Blocker PCR方法检测的EGFR-TKI耐药NSCLC患者中,T790 M耐药突变的检出率为40.15%（51/127）,其中21.56%（11/51）为单纯T790 M耐药突变,78.44%（40/51）为T790 M合并原有EGFR敏感突变。组织与血浆配对检测中,EGFR-TKI耐药后二次活检组织标本T790 M的检出率为54.54%（6/11）,血浆T790 M的检出率为43.75%（14/32）。在同时行Blocker PCR和二代测序基因检测的18例患者中,敏感突变位点及T790 M突变位点在两种检测方法中的一致率均为100%。结论在EGFR-TKI耐药后的NSCLC患者中使用Blocker PCR检测血浆T790 M突变是对组织活检的重要补充。
Bibliography:ZHANG Mei-ling1, LI Chun1 , YE Mao-song1 , GONG Zi ying2 , ZHANG Dao-yun2 , ZHANG Xin1 （1 Department of Pulmonary Medicine, Zhongshan Hospital, Fudan University, Shanghai 200032, China ; 2. Shanghai Yunying Medical TeeD nology Co. Ltd, Shanghai 201216, China ）
Objective To evaluate the feasibility of Blocker PCR assays in monitoring T790 M mutations in plasma of non-small-cell lung cancer（NSCLC）patients with epidermal growth factor receptor-tyrosine kinase inhibitor（EGFR-TKI）acquired resistance. Methods Blocker PCR assays were employed to identify mutations in plasma for 127 advanced NSCLC with acquired EGFR-TKI resistance.In addition,the paired tumor re-biopsy or PE samples were obtained to analyze EGFR mutations.Meanwhile,we evaluated the detection accuracy of Blocker PCR assays in comparison with the next generation sequencing（NGS）. Results Among the 127 patients,40.15%（51/127）EGFR T790 M was detected in the plasma,78.44%（40/51）coexisted with an EGFRactivating mutation.Additionally,54.54%（6/11）EGFR T790 M w
ISSN:1672-8467
DOI:10.3969/j.issn.1672-8467.2018.01.007