Circulating cell-free DNA has a high degree of specificity to detect exon 19 deletions and the single-point substitution mutation L858R in non-small cell lung cancer

Qian, Xin; Liu, Jia; Sun, Yuhui; Wang, Meifang; HuaiDing, Lei; Luo, Guangheng; Liu, Xianjun; Xiong, Chang; Liú, Dan; Liu, Jie; Tang, Yijun

doi:10.18632/oncotarget.8684

Cited by 48 publications

(42 citation statements)

References 50 publications

(70 reference statements)

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“…In a survey of several cancer types, 82% of patients with stage IV cancer have been detected with plasma circulating tumor DNA, which is similar to the present study despite two different methods being used (ARMS vs. NGS). A meta‐analysis of 27 studies published between 2007 and 2015 using a wide variety of methods and including nearly 4000 patients showed a comprehensive sensitivity of 60% in detecting plasma or serum EGFR mutations, with 94% specificity …”

Section: Discussionmentioning

confidence: 99%

Detection of EGFR gene mutation status from pleural effusions and other body fluid specimens in patients with lung adenocarcinoma

Zhang

Tang

et al. 2019

Thoracic Cancer

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Background Epidermal growth factor receptor (EGFR) gene mutation status is essential to the optimal management of lung adenocarcinoma. Liquid biopsy has advantages such as noninvasiveness, speediness, and convenience. This study aimed to detect EGFR gene mutations using next‐generation sequencing (NGS) from different types of body fluids from patients with lung adenocarcinoma. Methods This was a prospective study of 20 patients with lung adenocarcinoma recruited between January 2017 and December 2018 at the Beijing Hospital. All patients had adenocarcinoma with confirmed sensitizing EGFR mutations. Body fluid specimens included pleural effusion, ascites, pericardial effusion, and cerebrospinal fluid. NGS was conducted to test for nine lung cancer‐related gene in body fluid supernatant free DNA, sedimentary tumor cells, and plasma free DNA. Results The EGFR gene mutation abundance of body fluid supernatant free DNA was higher than that of body fluid sedimentary tumor cells and plasma free DNA specimens (100% vs. 90% vs. 80%, respectively, all P < 0.05). The results of EGFR mutation from the body fluid supernatants were consistent with the results from the tissue biopsy. Conclusions This study showed that compared with body fluid sediment tumor cells and plasma free DNA samples, body fluid supernatant free DNA has a higher detection rate and sensitivity of tumor‐specific mutations. Free DNA obtained from body fluid supernatants could be used as high‐quality specimens for gene mutation detection in patients with lung cancer. This could be applied in treatment decisions and patient management.

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Section: Discussionmentioning

confidence: 99%

Detection of EGFR gene mutation status from pleural effusions and other body fluid specimens in patients with lung adenocarcinoma

Zhang

Tang

et al. 2019

Thoracic Cancer

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“…Indeed, Lee et al found a relation of early tumor recurrence and chromosomal instability with drug resistance [26][27][28]. Misale et al performed genotyping on cfDNA exacted from plasma of 24 patients with colorectal cancer, and showed that clinical resistance arose through the acquisition of mutations detected by cfDNA [22,29]. Similarly, EGFR-activating mutations in cfDNA were found to be present before initiating erlotinib therapy, but decreased or disappeared during therapy [30,31].…”

Section: Discussionmentioning

confidence: 99%

Post surgery circulating free tumor DNA is a predictive biomarker for relapse of lung cancer

Yang

Zhang

et al. 2017

Cancer Medicine

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Cancer cells release DNA fragments into plasma as circulating free DNA (cfDNA). However, quantitative measurement of tumor‐derived DNA in cfDNA remains challenge. The purpose of this study was to quantitatively assess tumor‐derived DNA in lung cancer patients. By optimizing competitive allele‐specific TaqMan PCR (CAST‐PCR), we assessed the copy number of mutated Kirsten rat sarcoma viral oncogene homolog (KRAS) and epidermal growth factor receptor (EGFR) alleles in the pre/post surgery plasma of 168 lung cancer patients. An absolute quantitative PCR method was developed to assess the number of total cfDNA. All mutations detected in tumors were also found in the plasma after surgery. At the time of 30 days after surgery, EGFR mutation of circulating cell‐free DNA was detected only in two patients who recurred in 4 months after surgery. Compared to that of normal control at 30 days after surgery, five patients who recurred in 4 months had significantly higher circulating cell‐free DNA (P < 0.001), whereas six patients who recurred after 4 months (P = 0.207) and five patients without recurrence (P = 0.901) demonstrated significantly lower circulating cell‐free DNA. Our findings suggest that cfDNA analysis in plasma is an alternative and supplement to tissue analysis and hold promise for clinical application. Stratification of patients according to cfDNA levels at 30 days after surgery might be helpful in selecting lung cancer patients for adjuvant therapy after surgery.

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“…Thus, in the last decade an alternative not invasive approach, known as liquid biopsy, has been proposed to overcome the aforementioned issues. An increasing number of studies and meta-analysis evaluated the diagnostic value of plasma-based EGFR testing in the management of NSCLC patients, overall showing a sensitivity of 0.62 and a specificity of 0.96 as compared with the standard tissue genotyping, which suggest an adequate diagnostic accuracy of circulating tumor (ct)DNA analysis (Qiu et al, 2015;Wu et al, 2015;Qian et al, 2016;Luo et al, 2014). These evidences have led to the analytical validation and the clinical approval of EGFR mutation testing by using ctDNA isolated from plasma or serum of about 30% of patients whose tissue is not available at diagnosis or tissue analysis results are not evaluable (Fig.…”

Section: Potential Application At Diagnosismentioning

confidence: 99%

EGFR inhibition in NSCLC: New findings…. and opened questions?

Passiglia

Listì

Castiglia

et al. 2017

Critical Reviews in Oncology/Hematology

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The targeted inhibition of epidermal growth factor receptor (EGFR) has represented a milestone in the treatment of lung cancer. Several studies convincingly and consistently demonstrated a significant superiority of EGFR-TKIs over standard platinum-chemotherapy in EGFR-mutated NSCLC patients, leading to the sequential approval of gefitinib, erlotinib and afatinib as new standard first-line clinical treatment. To date we are witnessing a second revolution in the management of EGFR-positive NSCLC thanks to the development of new treatment strategies aiming to overcome acquired resistance to TKIs and ultimately improve patients’ outcomes. In this review we summarize the most important recent findings regarding EGFR-inhibition in NSCLC, highlighting the current unsolved questions on the selection of the best TKI in first-line, which therapy can be combined with upfront EGFR-TKIs, how to overcome acquired resistance, and which are the clinical applications of liquid biopsy

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Circulating cell-free DNA has a high degree of specificity to detect exon 19 deletions and the single-point substitution mutation L858R in non-small cell lung cancer

Cited by 48 publications

References 50 publications

Detection of EGFR gene mutation status from pleural effusions and other body fluid specimens in patients with lung adenocarcinoma

Detection of EGFR gene mutation status from pleural effusions and other body fluid specimens in patients with lung adenocarcinoma

Post surgery circulating free tumor DNA is a predictive biomarker for relapse of lung cancer

EGFR inhibition in NSCLC: New findings…. and opened questions?

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