Plasma epidermal growth factor receptor mutation testing with a chip-based digital PCR system in patients with advanced non-small cell lung cancer

Kasahara, Norimitsu; Kenmotsu, Hirotsugu; Serizawa, Masakuni; Umehara, Rina; Ono, Akira; Hisamatsu, Yasushi; Wakuda, Kazushige; Omori, Shota; Nakashima, Kazuhisa; Taira, Tetsuhiko; Naito, Tateaki; Murakami, Haruyasu; Koh, Yasuhiro; Mori, Keita; Endo, Masahiro; Nakajima, Takashi; Yamada, Masanobu; Kusuhara, Masatoshi; Takahashi, Toshiaki

doi:10.1016/j.lungcan.2017.02.001

Cited by 14 publications

(8 citation statements)

References 44 publications

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“… 31 55 Droplet dPCR 13/15 (87) 40/40 (100) 13/13 (100) 40/42 (95.2) Kasahara et al . 32 20 Chip-based dPCR 5/7 (71 7/13 (54) 5/11 (45.5) 7/9 (77.8) Yoshida et al . 33 21 PNA-LNA PCR 4/10 (40) 11/11 (100) 4/4 (100) 11/17 (64.7) Wu et al .…”

Section: Resultsmentioning

confidence: 99%

The diagnostic accuracy of circulating tumor DNA for the detection of EGFR-T790M mutation in NSCLC: a systematic review and meta-analysis

Passiglia

Rizzo

Maïo

et al. 2018

Sci Rep

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This pooled analysis aims at evaluating the diagnostic accuracy of circulating tumor (ct) DNA for the detection of EGFR-T790M mutation in NSCLC patients who progressed after EGFR-TKIs. Data from all published studies, reporting both sensitivity and specificity of plasma-based EGFR-T790M mutation testing by ctDNA were collected by searching in PubMed, Cochrane Library, American Society of Clinical Oncology, European Society of Medical Oncology and World Conference of Lung Cancer meeting proceedings. A total of twenty-one studies, with 1639 patients, were eligible. The pooled sensitivity of ctDNA analysis was 0.67 (95% CI: 0.64–0.70) and the pooled specificity was 0.80 (95% CI: 0.77–0.83). The pooled positive predictive value (PPV) was 0.85 (95% CI: 0.82–0.87) and the pooled negative predictive value (NPV) was 0.60 (95% CI: 0.56–0.63). The positive likelihood ratio (PLR) and negative likelihood ratio (NLR) were 2.67 (95% CI: 1.86–3.82) and 0.46 (95% CI: 0.38–0.54), respectively. The pooled diagnostic odds ratio (DOR) was 7.27 (4.39–12.05) and the area under the curve (AUC) of the summary receiver operating characteristics (sROC) curve was 0.77. The ctDNA analysis represents a promising, non-invasive approach to detect and monitor the T790M mutation status in NSCLC patients. Development of standardized methodologies and clinical validation are recommended.

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Section: Resultsmentioning

confidence: 99%

The diagnostic accuracy of circulating tumor DNA for the detection of EGFR-T790M mutation in NSCLC: a systematic review and meta-analysis

Passiglia

Rizzo

Maïo

et al. 2018

Sci Rep

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“… 16 , 18 The familiar digital platforms include ddPCR, BEAMing, and Quant Studio 3D dPCR (QS3D dPCR), with a detection limit of around 0.01%–0.04%, 0.01%, and 0.1%, respectively. 19 For the same samples, Thress et al reported the sensitivity and specificity for T790M mutation detection were 71% and 83%, respectively, with the ddPCR, and 71% and 67%, respectively, with BEAMing. 18 Besides, the study by Karlovich et al also revealed that the sensitivity and specificity of BEAMing was 73.3% and 50.0%.…”

Section: Discussionmentioning

confidence: 96%

“…The ddPCR technology harbors detection limit of 0.01%–0.04% for EGFR mutation. 19 Unlike EGFR sensitizing mutation, there is only a small fraction of mutant T790M alleles among plenty of wild-type alleles in clinical samples. 20 Therefore, the design of ddPCR assures the partitioning of competing backgrounds of wild-type alleles by thousands of even millions of droplets, leading to decrease in their PCR inhibitory effects and improvements in detection sensitivity.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic accuracy of droplet digital PCR for detection of EGFR T790M mutation in circulating tumor DNA

Zhang¹,

Chen²,

Xiang³

et al. 2018

CMAR

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ObjectivesAlthough different methods have been established to detect epidermal growth factor receptor (EGFR) T790M mutation in circulating tumor DNA (ctDNA), a wide range of diagnostic accuracy values were reported in previous studies. The aim of this meta-analysis was to provide pooled diagnostic accuracy measures for droplet digital PCR (ddPCR) in the diagnosis of EGFR T790M mutation based on ctDNA.Materials and methodsA systematic review and meta-analysis were carried out based on resources from Pubmed, Web of Science, Embase and Cochrane Library up to October 11, 2017. Data were extracted to assess the pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio (NLR), diagnostic OR (DOR), and areas under the summary receiver-operating characteristic curve (SROC).ResultsEleven of 311 studies identified have met the including criteria. The sensitivity and specificity of ddPCR for the detection of T790M mutation in ctDNA ranged from 0.0% to 100.0% and 63.2% to 100.0%, respectively. For the pooled analysis, ddPCR had a performance of 70.1% (95% CI, 62.7%–76.7%) sensitivity, 86.9 % (95% CI, 80.6%–91.7%) specificity, 3.67 (95% CI, 2.33–5.79) PLR, 0.41 (95% CI, 0.32–0.55) NLR, and 10.83 (95% CI, 5.86–20.03) DOR, with the area under the SROC curve being 0.82.ConclusionThe ddPCR harbored a good performance for detection of EGFR T790M mutation in ctDNA.

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“…dPCR or ddPCR system has been widely applied in cfDNA research for mutation detection and quantification. Kasahara et al [72] used commercialized dPCR system to detect 3 EGFR mutations (exon 19 deletions, L858R in exon 21, and T790M in exon 20) in cfDNA of patients with advanced non-small cell lung cancer, and LOD of each assay was determined to be 0.1% in this study. Farkkila et al [73] detected the FOXL2 402C>G (C134W) mutation in cfDNA of patients with adult granulosa cell tumors using a ddPCR assay with a low sensitivity of 0.05%.…”

Section: Mutation Detection Of Cfdnamentioning

confidence: 92%

Microfluidic Technologies for cfDNA Isolation and Analysis

Qiao

2019

Micromachines

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Cell-free DNA (cfDNA), which promotes precision oncology, has received extensive concern because of its abilities to inform genomic mutations, tumor burden and drug resistance. The absolute quantification of cfDNA concentration has been proved as an independent prognostic biomarker of overall survival. However, the properties of low abundance and high fragmentation hinder the isolation and further analysis of cfDNA. Microfluidic technologies and lab-on-a-chip (LOC) devices provide an opportunity to deal with cfDNA sample at a micrometer scale, which reduces required sample volume and makes rapid isolation possible. Microfluidic platform also allow for high degree of automation and high-throughput screening without liquid transfer, where rapid and precise examination and quantification could be performed at the same time. Microfluidic technologies applied in cfDNA isolation and analysis are limited and remains to be further explored. This paper reviewed the existing and potential applications of microfluidic technologies in collection and enrichment of cfDNA, quantification, mutation detection and sequencing library construction, followed by discussion of future perspectives.

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Plasma epidermal growth factor receptor mutation testing with a chip-based digital PCR system in patients with advanced non-small cell lung cancer

Cited by 14 publications

References 44 publications

The diagnostic accuracy of circulating tumor DNA for the detection of EGFR-T790M mutation in NSCLC: a systematic review and meta-analysis

The diagnostic accuracy of circulating tumor DNA for the detection of EGFR-T790M mutation in NSCLC: a systematic review and meta-analysis

Diagnostic accuracy of droplet digital PCR for detection of EGFR T790M mutation in circulating tumor DNA

Microfluidic Technologies for cfDNA Isolation and Analysis

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