scholarly journals ctDNA as a Cancer Biomarker: A Broad Overview

2020 ◽  
Author(s):  
Luciana Santos Pessoa ◽  
Manoela Heringer ◽  
Valéria Pereira Ferrer
Keyword(s):  
Liquid Biopsy ◽  
Circulating Tumor Dna ◽  
Cancer Biomarker ◽  
Minimally Invasive Approach ◽  
Genetic Changes ◽  
Invasive Approach ◽  
Secondary Tumor ◽  
Tumor Dna ◽  
Broad Overview

Circulating tumor DNA (ctDNA) in fluids has gained attention because ctDNA seems to identify tumor-specific abnormalities, which could be used for diagnosis, follow-up of treatment, and prognosis: the so-called liquid biopsy. Liquid biopsy is a minimally invasive approach and presents the sum of ctDNA from primary and secondary tumor sites. It has been possible not only to quantify the amount of ctDNA but also to identify (epi)genetic changes. Specific mutations in genes have been identified in the plasma of patients with several types of cancer, which highlights ctDNA as a possible cancer biomarker. However, achieving detectable concentrations of ctDNA in body fluids is not an easy task. ctDNA fragments present a short half-life, and there are no cut-off values to discriminate high and low ctDNA concentrations. Here, we discuss the use of ctDNA as a cancer biomarker, the main methodologies, the inherent difficulties, and the clinical predictive value of ctDNA.

Circulating tumor DNA analysis of genomic alterations in metastatic urothelial carcinoma from NCT03113266 study.

2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 486-486
Author(s):  
Haige Chen ◽  
Ruiyun Zhang ◽  
Feng Xie ◽  
Pan Du ◽  
Yue Zhang ◽  
...  
Keyword(s):  
Urothelial Carcinoma ◽  
Liquid Biopsy ◽  
Circulating Tumor Dna ◽  
Genomic Alterations ◽  
Invasive Approach ◽  
Synonymous Mutations ◽  
Therapeutic Decisions ◽  
Metastatic Urothelial Carcinoma ◽  
Ctdna Analysis ◽  
Tumor Dna

486 Background: Recent studies have suggested the predictive value of liquid biopsies for immune checkpoint inhibitors. NCT03113266 is a multicenter phase II trial to evaluate the safety and efficacy of toripalimab (anti-PD-1) in metastatic urothelial carcinoma (mUC). Here we report the initial circulating tumor DNA (ctDNA) analysis of genomic alterations from a single-institution biomarker cohort. Methods: Twenty-seven mUC patients receiving toripalimab (3 mg/kg Q2W) at Ren Ji Hospital were enrolled and consented to Institutional Review Board-approved protocols permitting biomaterial collection and genetic sequencing. Serial plasma specimens were obtained at baseline and every two cycles. The 600-gene panel (PredicineATLAS) liquid biopsy assay was applied to assess somatic variants and blood tumor mutational burden (bTMB). Results: The ctDNA assays were performed successfully for 100% of baseline samples (n = 27) with average read depth of 24,389 (range 14,000-31,700). A total of 571 non-synonymous mutations were identified, demonstrating prevalent aberrations in TP53 (63%), TERT promoter (30%), KDM2D (26%), PPM1D (26%), and KDM6A (26%). In 5 patients, FGFR3 variants were detected, including 6 missense sites and 4 FGFR3- TACC3 fusion events. Copy number gain ( FGFR1, ERBB2) and loss ( PTEN, BRCA2, CDKN2A) were pinpointed. TMB estimation revealed one case with an exceptionally high bTMB (62.6 mutations/Mb) and genomic features of microsatellite instability (MSI). Concordance with tumor-based genotyping and ctDNA kinetics during toripalimab treatment are being determined. Conclusions: Prospective ctDNA analysis using the PredicineATLAS liquid biopsy assay is feasible and represents a minimally invasive approach to detecting cancer-specific genetic landscape and potentially guiding personalized therapeutic decisions in mUC patients. Clinical trial information: NCT03113266 . Research Sponsor: Shanghai Junshi BioSciences; Huidu Shanghai Medical Sciences Ltd

scholarly journals Circulating tumor DNA is detectable in canine histiocytic sarcoma, oral malignant melanoma, and multicentric lymphoma

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Anaïs Prouteau ◽  
Jérôme Alexandre Denis ◽  
Pauline De Fornel ◽  
Edouard Cadieu ◽  
Thomas Derrien ◽  
...  
Keyword(s):  
Residual Disease ◽  
Specific Antigen ◽  
Point Mutations ◽  
Antigen Receptor ◽  
Digital Pcr ◽  
Circulating Tumor Dna ◽  
Histiocytic Sarcoma ◽  
Oncology Research ◽  
Tumor Dna

AbstractCirculating tumor DNA (ctDNA) has become an attractive biomarker in human oncology, and its use may be informative in canine cancer. Thus, we used droplet digital PCR or PCR for antigen receptor rearrangement, to explore tumor-specific point mutations, copy number alterations, and chromosomal rearrangements in the plasma of cancer-affected dogs. We detected ctDNA in 21/23 (91.3%) of histiocytic sarcoma (HS), 2/8 (25%) of oral melanoma, and 12/13 (92.3%) of lymphoma cases. The utility of ctDNA in diagnosing HS was explored in 133 dogs, including 49 with HS, and the screening of recurrent PTPN11 mutations in plasma had a specificity of 98.8% and a sensitivity between 42.8 and 77% according to the clinical presentation of HS. Sensitivity was greater in visceral forms and especially related to pulmonary location. Follow-up of four dogs by targeting lymphoma-specific antigen receptor rearrangement in plasma showed that minimal residual disease detection was concordant with clinical evaluation and treatment response. Thus, our study shows that ctDNA is detectable in the plasma of cancer-affected dogs and is a promising biomarker for diagnosis and clinical follow-up. ctDNA detection appears to be useful in comparative oncology research due to growing interest in the study of natural canine tumors and exploration of new therapies.

Impact of biomineralization on resin/biomineralized dentin bond longevity in a minimally invasive approach: An “in vitro” 18-month follow-up

2021 ◽  
Vol 37 (5) ◽  
pp. e276-e289
Author(s):  
Kelly Maria Moreira ◽  
Luiz Eduardo Bertassoni ◽  
Robert Phill Davies ◽  
Felipe Joia ◽  
José Francisco Höfling ◽  
...  
Keyword(s):  
Minimally Invasive ◽  
Minimally Invasive Approach ◽  
Invasive Approach

scholarly journals The mutational landscape of spinal chordomas and their sensitive detection using circulating tumor DNA

2020 ◽  
Author(s):  
Austin K Mattox ◽  
Beibei Yang ◽  
Christopher Douville ◽  
Sheng-fu Lo ◽  
Daniel Sciubba ◽  
...  
Keyword(s):  
Clinical Status ◽  
Spinal Column ◽  
Disease Recurrence ◽  
The United States ◽  
Circulating Tumor Dna ◽  
Blood Draw ◽  
Primary Tumors ◽  
Whole Exome ◽  
Tumor Dna

Abstract Background Chordomas are the most common primary spinal column malignancy in the United States. The aim of this study was to determine whether chordomas may be detected by evaluating mutations in circulating tumor DNA (ctDNA). Methods 32 patients with a biopsy-confirmed diagnosis of chordoma had blood drawn pre-operatively and/or at follow up appointments. Mutations in the primary tumor were identified by whole exome sequencing and liquid biopsy by ddPCR and/or RACE-Seq was used to detect one or more of these mutations in plasma ctDNA at concurrent or later time points. Results 87.1% of patients were ctDNA positive at the time of initial blood draw (p < 0.001). Follow up blood draws in twenty of the patients suggest that ctDNA levels may reflect the clinical status of the disease. Patients with positive ctDNA levels were more likely to have greater mutant allele frequencies in their primary tumors (p = 0.004) and undergo radiotherapy (p = 0.02), and the presence of ctDNA may correlate with response to systemic chemotherapy and/or disease recurrence. Conclusions Detection of ctDNA mutations may allow for the detection and monitoring of disease progression for chordomas.

scholarly journals Liquid biopsy in NSCLC: a new challenge in radiation therapy

2021 ◽  
Author(s):  
Annarita Perillo ◽  
Mohamed Vincenzo Agbaje Olufemi ◽  
Jacopo De Robbio ◽  
Rossella Margherita Mancuso ◽  
Anna Roscigno ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Liquid Biopsy ◽  
Residual Disease ◽  
Biological Fluids ◽  
Circulating Tumor Dna ◽  
Minimum Residual ◽  
Nsclc Patients ◽  
Choice Of Therapy ◽  
Tumor Dna

Lung cancer is the most common cancer and the leading cause of cancer mortality worldwide. To date, tissue biopsy has been the gold standard for the diagnosis and the identification of specific molecular mutations, to guide choice of therapy. However, this procedure has several limitations. Liquid biopsy could represent a solution to the intrinsic limits of traditional biopsy. It can detect cancer markers such as circulating tumor DNA or RNA (ctDNA, ctRNA), and circulating tumor cells, in plasma, serum or other biological fluids. This procedure is minimally invasive, reproducible and can be used repeatedly. The main clinical applications of liquid biopsy in non-small cell lung cancer (NSCLC) patients are the early diagnosis, stratification of the risk of relapse, identification of mutations to guide application of targeted therapy and the evaluation of the minimum residual disease. In this review, the current role of liquid biopsy and associated markers in the management of NSCLC patients was analyzed, with emphasis on ctDNA and CTCs, and radiotherapy.

Sutureless Aortic Valve Implantation through an Upper V-Type Ministernotomy: An Innovative Approach in High-Risk Patients

2013 ◽  
Vol 8 (1) ◽  
pp. 23-28 ◽  
Author(s):  
Giovanni Concistrè ◽  
Antonio Miceli ◽  
Francesca Chiaramonti ◽  
Pierandrea Farneti ◽  
Stefano Bevilacqua ◽  
...  
Keyword(s):  
High Risk ◽  
Aortic Valve ◽  
Minimally Invasive ◽  
Minimally Invasive Approach ◽  
Invasive Approach ◽  
High Risk Patients ◽  
Risk Patients ◽  
The Mean ◽  
Valve Implantation

Objective Aortic valve replacement in minimally invasive approach has shown to improve clinical outcomes even with a prolonged cardiopulmonary bypass and aortic cross-clamp (ACC) time. Sutureless aortic valve implantation may ideally shorten operative time. We describe our initial experience with the sutureless 3f Enable (Medtronic, Inc, ATS Medical, Minneapolis, MN USA) aortic bioprosthesis implanted in minimally invasive approach in high-risk patients. Methods Between May 2010 and May 2011, thirteen patients with severe aortic stenosis underwent aortic valve replacement with the 3f Enable bioprosthesis through an upper V-type ministernotomy interrupted at the second intercostal space. The mean ± SD age was 77 ± 3.9 years (range, 72–83 years), 10 patients were women, and the mean ± SD logistic EuroSCORE was 15% ± 13.5%. Echocardiography was performed preoperatively, at postoperative day 1, at discharge, and at follow-up. Clinical data, adverse events, and patient outcomes were recorded retrospectively. The median follow-up time was 4 months (interquartile range, 2–10 months). Results Most of the implanted valves were 21 mm in diameter (19–25 mm). The CPB and ACC times were 100.2 ± 25.3 and 66.4 ± 18.6 minutes. At short-term follow-up, the mean ± SD pressure gradient was 14 ± 4.9 mm Hg; one patient showed trivial paravalvular leakage. No patients died during hospital stay or at follow-up. Conclusions The 3f Enable sutureless bioprosthesis implanted in minimally invasive approach through an upper V-type ministernotomy is a feasible, safe, and reproducible procedure. Hemodynamic and clinical data are promising. This innovative approach might be considered as an alternative in high-risk patients. Reduction of CPB and ACC time is possible with increasing of experience and sutureless evolution of actual technology.

Value of Liquid Biopsy Monitoring of Circulating Tumor DNA in HPV-Associated Oropharyngeal Cancer

2021 ◽  
Vol 156 (0) ◽  
pp. 1-7
Author(s):  
Atsushi Imai ◽  
Kiyoshi Misawa ◽  
Satoshi Yamada ◽  
Jun Okamura ◽  
Daiki Mochizuki ◽  
...  
Keyword(s):  
Oropharyngeal Cancer ◽  
Liquid Biopsy ◽  
Circulating Tumor Dna ◽  
Tumor Dna
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