Utility of circulating tumor DNA in cancer diagnostics with emphasis on early detection

Fiala, Clare; Diamandis, Eleftherios P.

doi:10.1186/s12916-018-1157-9

Cited by 208 publications

(160 citation statements)

References 66 publications

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“…As there are few reports on the relationship between tumor mutation burden (both tTMB and bTMB) and clinical benefit of anti‐PD‐1 or anti‐PD‐L1 therapy, especially in CRC patients with mismatch repair proficiency, further study will be needed. Moreover, although the number of patients with ctDNA detected in advanced cancers is likely to be high, that in early‐stage cancers is insufficient . Further technical development for genotyping and/or genome sequencing to increase sensitivity and decrease the false‐positive rate is needed to make it possible to detect early cancer using liquid biopsy as a cancer screening test.…”

Section: Future Perspectives and Conclusionmentioning

confidence: 99%

Clinical utility of circulating tumor DNA for colorectal cancer

et al. 2019

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Colorectal cancer (CRC) is currently the most common type of cancer in Japan, and its prognosis has improved because of development of diagnosis and advancement in treatments including surgery and chemotherapy. However, because of intratumor heterogeneity and clonal evolution, tumors often develop resistance to treatment. Genotyping tumor tissue in search of somatic genetic alterations for actionable information has become routine examination in clinical practice. However, the inherent molecular heterogeneity of metastatic tumors and the ability of cancer genomes to dynamically evolve are not properly captured by tissue specimens only. Circulating tumor DNA (ctDNA) carrying tumor‐specific genetic or epigenetic alterations is released into the circulation from tumor cells undergoing apoptosis or necrosis. Analysis of ctDNA has the potential to change clinical practice by exploiting blood rather than tissue, as a source of information. Here, we provide an overview of the characteristics of ctDNA and focus on detection methods for ctDNA, and the feasibility of use of ctDNA to monitor tumor dynamics for patients with colorectal cancer.

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Section: Future Perspectives and Conclusionmentioning

confidence: 99%

Clinical utility of circulating tumor DNA for colorectal cancer

et al. 2019

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“…There is a lack of appropriately designed clinical trials for the validation of ctDNA analysis, whether they be ctDNA stand-alone diagnostic tests or tests that compare information provided by ctDNA with tissue genotyping [195]. Despite some progress [196,198], further studies are needed to validate the clinical utility of ctDNA.…”

Section: The Drawbacks Of Ctdna In Clinical Applicationsmentioning

confidence: 99%

The interplay of circulating tumor DNA and chromatin modification, therapeutic resistance, and metastasis

Zhang

Liang

et al. 2019

Mol Cancer

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Peripheral circulating free DNA (cfDNA) is DNA that is detected in plasma or serum fluid with a cell-free status. For cancer patients, cfDNA not only originates from apoptotic cells but also from necrotic tumor cells and disseminated tumor cells that have escaped into the blood during epithelial-mesenchymal transition. Additionally, cfDNA derived from tumors, also known as circulating tumor DNA (ctDNA), carries tumor-associated genetic and epigenetic changes in cancer patients, which makes ctDNA a potential biomarker for the early diagnosis of tumors, monitory and therapeutic evaluations, and prognostic assessments, among others, for various kinds of cancer. Moreover, analyses of cfDNA chromatin modifications can reflect the heterogeneity of tumors and have potential for predicting tumor drug resistance.

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“…Therefore, the development of a low-cost, minimally invasive assay for early stage lung cancer detection would significantly improve the current situation. Over the past 20 years a number of blood-based lung cancer assays that detect protein [8,9], microRNA [10], circulating DNA [11][12][13], and methylated DNA [14] biomarkers have been developed. Unfortunately, most are specific to late-stage lung cancer [9,10,13].…”

Section: Introductionmentioning

confidence: 99%

A High-Performing Plasma Metabolite Panel for Early-Stage Lung Cancer Detection

Zhang

Zheng

Ahmed³

et al. 2020

Cancers

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The objective of this research is to use metabolomic techniques to discover and validate plasma metabolite biomarkers for the diagnosis of early-stage non-small cell lung cancer (NSCLC). The study included plasma samples from 156 patients with biopsy-confirmed NSCLC along with age and gender-matched plasma samples from 60 healthy controls. A fully quantitative targeted mass spectrometry (MS) analysis (targeting 138 metabolites) was performed on all samples. The sample set was split into a discovery set and validation set. Metabolite concentration data, clinical data, and smoking history were used to determine optimal sets of biomarkers and optimal regression models for identifying different stages of NSCLC using the discovery sets. The same biomarkers and regression models were used and assessed on the validation models. Univariate and multivariate statistical analysis identified β-hydroxybutyric acid, LysoPC 20:3, PC ae C40:6, citric acid, and fumaric acid as being significantly different between healthy controls and stage I/II NSCLC. Robust predictive models with areas under the curve (AUC) > 0.9 were developed and validated using these metabolites and other, easily measured clinical data for detecting different stages of NSCLC. This study successfully identified and validated a simple, high-performing, metabolite-based test for detecting early stage (I/II) NSCLC patients in plasma. While promising, further validation on larger and more diverse cohorts is still required. Tissue Bank, which is the site of the Respiratory Health Network Tissue Bank of the Fonds de la Recherché du Quebec-Sante in Quebec, Canada. Dates of sample collection range from 2005 to 2017. Frozen (−80 • C) aliquots of 200-400 µL of plasma were assembled and shipped to The Metabolomic Innovation Centre (TMIC) at the University of Alberta, Canada for quantitative metabolomic analysis. The plasma samples were collected from 156 patients with biopsy-proven and biopsy-graded NSCLC and 60 healthy controls with comparable age and gender profiles. Healthy controls consisted of both smokers and non-smokers. The cancer samples had detailed data on cancer stage, lung cancer histology, age, weight, height, body mass index, smoking status (never/former/current), smoking history (cig/day and period of smoking in years), sex, survival history, medical condition history, personal history of cancer, lung disease status, treatment, tumor size (in mm), tumor grading, details of positive nodules, as well as data collected on each cancer patient's transthoracic needle biopsy, transbronchial biopsy, endobronchial biopsy, bronchoalveolar lavage, bronchial brushing, bronchial aspiration, endobronchial ultrasound, transesophageal echocardiography, bone scintigraphy, abdominal ultrasound, abdominal CT scan, thoracic CT scan, cerebral CT scan, thoracic X-ray, mediastinoscopy, thoracic MRI, cerebral MRI, and PET scan. Healthy controls had data on age, weight, height, body mass index, smoking status (never/former/current), smoking history (cig/day and period of smoking...

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Utility of circulating tumor DNA in cancer diagnostics with emphasis on early detection

Cited by 208 publications

References 66 publications

Clinical utility of circulating tumor DNA for colorectal cancer

Clinical utility of circulating tumor DNA for colorectal cancer

The interplay of circulating tumor DNA and chromatin modification, therapeutic resistance, and metastasis

A High-Performing Plasma Metabolite Panel for Early-Stage Lung Cancer Detection

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