ctDNA as a Cancer Biomarker: A Broad Overview

Pessôa, Luciana Fontes; Heringer, Manoela; Ferrer, Valéria Pereira

doi:10.20944/preprints202006.0263.v1

Cited by 20 publications

(26 citation statements)

References 121 publications

(181 reference statements)

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“…As ctDNA is double-stranded nucleic acid shed by tumor cells into the circulating blood, it should contain all of the genetic information present in tumor tissue, and could capture both spatial and temporal heterogeneity of tumors [17,18]. The application of ctDNA-based real-time liquid biopsy represents a noninvasive and highly sensitive biomarker for cancer diagnosis, early prediction, and therapeutic response assessment [7,[19][20][21][22].…”

Section: Discussionmentioning

confidence: 99%

Targeted Next-Generation Sequencing of Circulating Tumor DNA Mutations among Metastatic Breast Cancer Patients

Sun

Lin

Chen

et al. 2021

Preprint

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Background Liquid biopsy through the detection of circulating tumor DNA (ctDNA) has potential advantages in cancer monitoring and prediction. However, most previous studies in this area were performed with a few hotspot genes, single time point detection, or insufficient sequencing depth.Methods In this study, we performed targeted next-generation sequencing (NGS) with a customized panel in metastatic breast cancer (MBC) patients. Fifty-four plasma samples were taken before chemotherapy and after the third course of treatment for detection and analysis. Paired lymphocytes were also included to eliminate clonal hematopoiesis (CH)-related alternatives.Results A total of 1182 nonsynonymous mutations on 419 genes were identified. More ctDNA mutations were detected in patients with tumors> 3cm (P = 0.035) and HER2(−) patients (P = 0.029). For a single gene, the distribution of ctDNA mutations was also correlated with clinical characteristics. Multivariate regression analysis revealed that HER2 status was significantly associated with mutation burden (OR 0.02, 95% CI 0–0.62, P = 0.025). The profiles of ctDNA mutations exhibited marked discrepancies between two time points, and baseline ctDNA was more sensitive and specific than that after chemotherapy. Finally, elevated ctDNA mutation level was positively correlated with poor survival (P < 0.001).Conclusion Mutations in ctDNA could serve as a potential biomarker for the evaluation and prediction, and guide the clinical management of MBC patients with chemotherapy.

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Section: Discussionmentioning

confidence: 99%

Targeted Next-Generation Sequencing of Circulating Tumor DNA Mutations among Metastatic Breast Cancer Patients

Sun

Lin

Chen

et al. 2021

Preprint

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“…ctDNA and cfDNA can reflect blood-based tumor mutational burden (bTMB) and chromosomal instability of cancer cells, which has been linked to poor prognosis and resistance to treatment in several malignancies. By analyzing the mutations detected in ctDNA, bTMB can be calculated to evaluate tumor response to immunotherapy, and increased TMB has been associated with a higher likelihood of immunotherapy response (37)(38)(39). More importantly, the dynamics of ctDNA may be more sensitive than radiological tests.…”

Section: Liquid Biopsymentioning

confidence: 99%

Hyperprogression under immunotherapy: a new form of immunotherapy response?—a narrative literature review

Lin

Vanneste

et al. 2021

Transl Lung Cancer Res

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Objective: Update the last known review, and summarize the definitions, diagnostic criteria, reported risk factors, possible mechanisms and potential biomarkers of hyperprogressive disease (HPD) under immunotherapy.Background: Immunotherapy is a relatively new systemic therapy adding a new method of treatment of especially advanced cancer patients. In a variety of immunotherapies, however, an unexpected acceleration of tumor growth, known as HPD, is observed in approximately 30% of patients after immune checkpoint inhibitor (ICI) treatment. HPD has a deleterious survival effect on patients and represents an urgent issue for both clinicians and patients. Existing literature has reviewed and summarized the definition, diagnostic criteria, reported risk factors and possible mechanisms of hyperprogression. However, with the gradual deepening of the exploration of HPD, researchers have made significant breakthroughs in elucidating the mechanism and mechanism of HPD and exploring biomarkers. Methods:The search was conducted on Google Scholar and PubMed in January and May of 2021. We searched among English papers with no limitation on the publication year. We have included retrospective studies, case reports and basic researches related to HPD in the collection, we also referred to some review articles on HPD in recent years. A qualitative-interpretive approach was used for data extraction.Conclusions: HPD is considered to be an acceleration of tumor growth after ICI treatment that is not only due to immune infiltration but also due to real disease progression, with an incidence of about 4-30% in all retrospective published studies to date. Currently, the most widely used criteria of HPD contain Response Evaluation Criteria in Solid Tumors (RECIST) and tumor growth rate (TGR) or tumor growth kinetics.The common risk factors and underlying mechanisms of HPD have not yet been fully elucidated. However, based on the poor prognosis of HPD, there have been many advances in the exploration of biomarkers in recent years, like the prediction of HPD, such as LDH levels of peripheral blood, liquid biopsy, and radiomics, etc.

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“…On the other hand, CTCs collected from distinct treatment stages may reveal the evolving tumor characteristics and potentially capture the dynamic evolution of the tumor, which may provide important clues in devising more effective cancer therapies. While other liquid biopsies, such as circulation tumor DNA (ctDNA) and exosomes, may similarly serve the purpose in guiding therapeutic decisions during cancer detection and treatment ( Pantel and Alix-Panabieres, 2019 ; Kilgour et al, 2020 ; Pessoa et al, 2020 ; Ignatiadis et al, 2021 ; Yu et al, 2021 ), CTCs appear to be unique for their functional role as the major metastases-seeding cells. In the next sections, we aim to provide a snapshot of the recent advances in CTC biological studies and how these new findings may be translated into clinical applications.…”

Section: Introductionmentioning

confidence: 99%

Circulating Tumor Cells (CTCs): A Unique Model of Cancer Metastases and Non-invasive Biomarkers of Therapeutic Response

et al. 2021

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Late-stage cancer metastasis remains incurable in the clinic and is the major cause death in patients. Circulating tumor cells (CTCs) are thought to be metastatic precursors shed from the primary tumor or metastatic deposits and circulate in the blood. The molecular network regulating CTC survival, extravasation, and colonization in distant metastatic sites is poorly defined, largely due to challenges in isolating rare CTCs. Recent advances in CTC isolation and ex vivo culture techniques facilitates single-cell omics and the development of related animal models to study CTC-mediated metastatic progression. With these powerful tools, CTCs can potentially be used as non-invasive biomarkers predicting therapeutic response. These studies may open a new avenue for CTC-specific drug discoveries. In this short review, we aim to summarize recent progress in the characterization of CTCs and their clinical relevance in various cancers, setting the stage for realizing personalized therapies against metastases.

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ctDNA as a Cancer Biomarker: A Broad Overview

Cited by 20 publications

References 121 publications

Targeted Next-Generation Sequencing of Circulating Tumor DNA Mutations among Metastatic Breast Cancer Patients

Targeted Next-Generation Sequencing of Circulating Tumor DNA Mutations among Metastatic Breast Cancer Patients

Hyperprogression under immunotherapy: a new form of immunotherapy response?—a narrative literature review

Circulating Tumor Cells (CTCs): A Unique Model of Cancer Metastases and Non-invasive Biomarkers of Therapeutic Response

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