Comparative assessment of NOIR-SS and ddPCR for ctDNA detection of EGFR L858R mutations in advanced L858R-positive lung adenocarcinomas.
Comparative assessment of NOIR-SS and ddPCR for ctDNA detection of EGFR L858R mutations in advanced L858R-positive lung adenocarcinomas.
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DOI：
10.1038/s41598-021-94592-9
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发表时间：
2021-07-22
影响因子：
4.6
通讯作者：
Suda T
中科院分区：
文献类型：
--
作者：
Akahori D;Inoue Y;Inui N;Karayama M;Yasui H;Hozumi H;Suzuki Y;Furuhashi K;Fujisawa T;Enomoto N;Nakamura Y;Suda T
表皮生长因子受体(EGFR)基因分型是提示肺腺癌患者进行最合适治疗的必要过程。使用循环肿瘤DNA(CtDNA)的液体活检潜在地补充了使用肿瘤组织活检来识别癌细胞中的基因特异性突变。我们评估了一种高保真测序方法的性能，该方法使用称为非重叠整合读取测序系统(NOIR-SS)的分子条形码来检测33例匹配组织活检显示的L858R突变阳性肺腺癌晚期或复发患者的EGFR L858R突变等位基因。我们比较了NOIR-SS和位点特异性液滴数字聚合酶链式反应(DdPCR)在检测L858R变异等位基因片段(VAFs)方面的敏感性和能力。NOIR-SS和ddPCR检测L858R等位基因的敏感性分别为87.9%(29/33)和78.8%(26/33)。每种检测方法测得的VAFs具有很强的相关性。值得注意的是，其中一例标本的noir-SS的VAF为30.12%，而ddPCR的VAF为0.05%，这是因为之前认识不佳的机制：双碱基替代诱导的L858R(c.2573_2574delinsGA)。这些结果表明，NOIR-SS是一种检测ctDNA的有用方法，有可能克服ddPCR高度依赖于引物与特定靶向序列的结合能力的局限性。
Genotyping epidermal growth factor receptor (EGFR) is an essential process to indicate lung adenocarcinoma patients for the most appropriate treatment. Liquid biopsy using circulating tumor DNA (ctDNA) potentially complements the use of tumor tissue biopsy for identifying genotype-specific mutations in cancer cells. We assessed the performance of a high-fidelity sequencing method that uses molecular barcodes called the nonoverlapping integrated read sequencing system (NOIR-SS) for detecting EGFR L858R-mutated alleles in 33 advanced or recurrent patients with L858R mutation-positive lung adenocarcinoma revealed by matched tissue biopsy. We compared NOIR-SS with site-specific droplet digital PCR (ddPCR), which was taken as the reference, in terms of sensitivity and ability to quantify L858R variant allele fractions (VAFs). NOIR-SS and ddPCR had sensitivities of 87.9% (29/33) and 78.8% (26/33) for detecting L858R alleles, respectively. The VAFs measured by each assay were strongly correlated. Notably, one specimen was positive with a VAF of 30.12% for NOIR-SS but marginally positive with that of 0.05% for ddPCR because of a previously poorly recognized mechanism: two-base substitution-induced L858R (c.2573_2574delinsGA). These results indicate that NOIR-SS is a useful method for detecting ctDNA, potentially overcoming a limitation of ddPCR which highly depends on the binding ability of primers to specific targeting sequences.
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DOI：
10.1093/annonc/mdt205
发表时间：
2013-09
期刊：
Annals of oncology : official journal of the European Society for Medical Oncology
影响因子：
--
作者：
Dearden S;Stevens J;Wu YL;Blowers D
通讯作者：
Blowers D
DOI：
10.1158/1078-0432.ccr-17-0291
发表时间：
2017-09-15
期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
--
作者：
Janku F;Zhang S;Waters J;Liu L;Huang HJ;Subbiah V;Hong DS;Karp DD;Fu S;Cai X;Ramzanali NM;Madwani K;Cabrilo G;Andrews DL;Zhao Y;Javle M;Kopetz ES;Luthra R;Kim HJ;Gnerre S;Satya RV;Chuang HY;Kruglyak KM;Toung J;Zhao C;Shen R;Heymach JV;Meric-Bernstam F;Mills GB;Fan JB;Salathia NS
通讯作者：
Salathia NS
DOI：
10.1016/j.jtho.2018.03.035
发表时间：
2018-08
期刊：
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer
影响因子：
--
作者：
Lisberg A;Cummings A;Goldman JW;Bornazyan K;Reese N;Wang T;Coluzzi P;Ledezma B;Mendenhall M;Hunt J;Wolf B;Jones B;Madrigal J;Horton J;Spiegel M;Carroll J;Gukasyan J;Williams T;Sauer L;Wells C;Hardy A;Linares P;Lim C;Ma L;Adame C;Garon EB
通讯作者：
Garon EB
DOI：
10.1073/pnas.0507904102
发表时间：
2005-11-08
影响因子：
11.1
作者：
Diehl, F;Li, M;Vogelstein, B
通讯作者：
Vogelstein, B
影响因子：
3.7
作者：
Kukita Y;Ohkawa K;Takada R;Uehara H;Katayama K;Kato K
通讯作者：
Kato K