scholarly journals Liquid Biomarkers for Improved Diagnosis and Classification of CNS Tumors

2021 ◽  
Vol 22 (9) ◽  
pp. 4548
Author(s):  
Severa Bunda ◽  
Jeffrey A. Zuccato ◽  
Mathew R. Voisin ◽  
Justin Z. Wang ◽  
Farshad Nassiri ◽  
...  

Liquid biopsy, as a non-invasive technique for cancer diagnosis, has emerged as a major step forward in conquering tumors. Current practice in diagnosis of central nervous system (CNS) tumors involves invasive acquisition of tumor biopsy upon detection of tumor on neuroimaging. Liquid biopsy enables non-invasive, rapid, precise and, in particular, real-time cancer detection, prognosis and treatment monitoring, especially for CNS tumors. This approach can also uncover the heterogeneity of these tumors and will likely replace tissue biopsy in the future. Key components of liquid biopsy mainly include circulating tumor cells (CTC), circulating tumor nucleic acids (ctDNA, miRNA) and exosomes and samples can be obtained from the cerebrospinal fluid, plasma and serum of patients with CNS malignancies. This review covers current progress in application of liquid biopsies for diagnosis and monitoring of CNS malignancies.

Diagnostics ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1391
Author(s):  
Battistelli Michela

Liquid biopsies could be considered an excellent diagnostic tool, in different physiological or pathological conditions. The possibility of using liquid biopsies for non-invasive clinical purposes is quite an old idea: indeed many years ago it was already being used in the field of non-invasive prenatal tests (NIPT) for autosomal fetal aneuploidy evaluation. In 1997 Lo et al. had identified fetal DNA in maternal plasma and serum, showing that about 10–15% of cfDNA in maternal plasma is derived from the placenta, and biologic fluid represents an important and non-invasive technique to evaluate state diseases and possible therapies. Nowadays, several body fluids, such as blood, urine, saliva and other patient samples, could be used as liquid biopsy for clinical non-invasive evaluation. These fluids contain numerous and various biomarkers and could be used for the evaluation of pathological and non-pathological conditions. In this review we will analyze the different types of liquid biopsy, their potential role in clinical diagnosis and the functional involvement of extracellular vesicles in these fluids as carriers.


2020 ◽  
Vol 11 (1) ◽  
pp. 25
Author(s):  
Sonia Hermoso-Durán ◽  
Guillermo García-Rayado ◽  
Laura Ceballos-Laita ◽  
Carlos Sostres ◽  
Sonia Vega ◽  
...  

Background: Current efforts in the identification of new biomarkers are directed towards an accurate differentiation between benign and premalignant cysts. Thermal Liquid Biopsy (TLB) has been previously applied to inflammatory and tumor diseases and could offer an interesting point of view in this type of pathology. Methods: In this work, twenty patients (12 males and 8 females, average ages 62) diagnosed with a pancreatic cyst benign (10) and premalignant (10) cyst lesions were recruited, and biological samples were obtained during the endoscopic ultrasonography procedure. Results: Proteomic content of cyst liquid samples was studied and several common proteins in the different groups were identified. TLB cyst liquid profiles reflected protein content. Also, TLB serum score was able to discriminate between healthy and cysts patients (71% sensitivity and 98% specificity) and between benign and premalignant cysts (75% sensitivity and 67% specificity). Conclusions: TLB analysis of plasmatic serum sample, a quick, simple and non-invasive technique that can be easily implemented, reports valuable information on the observed pancreatic lesion. These preliminary results set the basis for a larger study to refine TLB serum score and move closer to the clinical application of TLB providing useful information to the gastroenterologist during patient diagnosis.


2019 ◽  
Vol XXIV (139) ◽  
pp. 36-52
Author(s):  
Victor Nowosh ◽  
Cristina de O. M. S. Gomes

Liquid biopsy is a diagnostic and prognostic tool already reported in several studies with human oncologic patients, and shows potential for application in veterinary oncology. However, liquid biopsy is not a widely known technique in veterinary medicine, and related research is sparse. Liquid biopsy is based on the analysis of blood samples for detection of various tumoral products in circulation. It is a non-invasive technique, and provides results in real time. Information obtained from liquid biopsies can complement the information obtained from the analysis of tissue biopsy. In this review of literature, we present the background principles of liquid biopsy, its methodology, and the tumoral products that can currently be detected with this tool. In addition to circulating tumor cells, liquid biopsies allow detection of nucleic acids, including tumor DNA, micro-RNA, messenger RNA and exosomes. We present the value of liquid biopsy as a diagnostic and prognostic tool, its predictive value in tumor progression and treatment success, and usefulness to assist treatment choice. We discuss its limitations, and the challenges to implement its use in a large scale.


Epiretinal membrane (ERM), also known as macular pucker, premacular fibroplasia, premacular gliosis, or cellophane maculopathy is a common vitreoretinal interface pathology that can result in mild to moderate visual impairment with an impact on the quality of life. ERM can be classified as primary “idiopathic” or secondary. Most ERMs occur in individuals older than 50 years, and the prevalence of ERM increases as age increases. The pathological mechanisms are not entirely known, however, the posterior vitreous detachment is thought to be key. Diagnosis and classification of ERM are based on clinical examination findings. However, high resolution spectral domain-optic coherence tomographies (SD-OCTs) have proven to be more sensitive than clinical examination for the diagnosis of numerous disorders of the vitreomacular interface, including ERM. SD-OCTs enable the pre-and postoperative comparison of macular structures in a non-invasive examination. In treatment, surgical intervention entails pars plana vitrectomy with ERM removal with or without internal limiting membrane (ILM) removal. Good visual recovery was present in most patients after surgery.


Author(s):  
Sinisa Bratulic ◽  
Francesco Gatto ◽  
Jens Nielsen

Abstract Precision oncology aims to tailor clinical decisions specifically to patients with the objective of improving treatment outcomes. This can be achieved by leveraging omics information for accurate molecular characterization of tumors. Tumor tissue biopsies are currently the main source of information for molecular profiling. However, biopsies are invasive and limited in resolving spatiotemporal heterogeneity in tumor tissues. Alternative non-invasive liquid biopsies can exploit patient’s body fluids to access multiple layers of tumor-specific biological information (genomes, epigenomes, transcriptomes, proteomes, metabolomes, circulating tumor cells, and exosomes). Analysis and integration of these large and diverse datasets using statistical and machine learning approaches can yield important insights into tumor biology and lead to discovery of new diagnostic, predictive, and prognostic biomarkers. Translation of these new diagnostic tools into standard clinical practice could transform oncology, as demonstrated by a number of liquid biopsy assays already entering clinical use. In this review, we highlight successes and challenges facing the rapidly evolving field of cancer biomarker research. Lay Summary Precision oncology aims to tailor clinical decisions specifically to patients with the objective of improving treatment outcomes. The discovery of biomarkers for precision oncology has been accelerated by high-throughput experimental and computational methods, which can inform fine-grained characterization of tumors for clinical decision-making. Moreover, advances in the liquid biopsy field allow non-invasive sampling of patient’s body fluids with the aim of analyzing circulating biomarkers, obviating the need for invasive tumor tissue biopsies. In this review, we highlight successes and challenges facing the rapidly evolving field of liquid biopsy cancer biomarker research.


2019 ◽  
Vol 37 (4_suppl) ◽  
pp. 504-504
Author(s):  
Kyle Gowen ◽  
Travis A Clark ◽  
Jeffrey P. Gregg ◽  
Mandy Z. Greene ◽  
Annie Murphy ◽  
...  

504 Background: Microsatellite instability (MSI) testing has become critically important in clinical cancer care of patients with cancer given the recent pan-tumor FDA approval of pembrolizumab for use in patients with MSI-High (MSI-H) tumors. We previously demonstrated the robustness of a novel proprietary algorithm for determination of MSI status via NGS from solid tumor biopsy specimens (J Clin Oncol 34, 2016 (suppl; abstr 1523)). Traditional MSI tests such as PCR or IHC are impractical for pan-tumor adoption, as MSI-H prevalence outside of gastrointestinal and endometrial cancers is usually < 1%. NGS-based ctDNA profiling provides an opportunity for both MSI and actionable alteration testing in patients in whom tissue-based biopsy is not available. Methods: Genomic DNA (gDNA) from five previously characterized MSI-H cell lines: (DLD1, 22Rv1, LNCap, RL952, CL188), and one MSS cell line (SCC9) was enzymatically-fragmented to simulate ctDNA and titrated to various dilution levels with DNA from a healthy hapmap subject (NA12878). Samples were screened with a 70-gene panel, FoundationOne Liquid, that includes 180 mononucleotide repeat sequences (8-26bp long in the human reference genome). Length variability in the 180 repeat loci was utilized to generate an overall MSI score via principal components analysis. The NGS based MSI algorithm was applied to all the samples. Results: Assessment of these six cell lines, targeting five dilution levels confirmed by SNP mixing ratios, show that our NGS based MSI test for liquid biopsies has 96% sensitivity at > 2% tumor fraction with 100% PPV. The regression intercept of the MSI-H dilution samples with the pre-established MSI-H calling threshold shows our method has a LOD of 1.03% tumor fraction. MSI-H prevalence data from liquid biopsies of gastrointestinal tumors obtained during clinical care will also be presented. Conclusions: These data demonstrate the feasibility of using NGS-based liquid biopsy assays for MSI testing. This ctDNA-based approach will allow for increased access to checkpoint inhibitors in a pan-tumor setting, which would be especially relevant for cancers where routine MSI testing is impractical or when tissue is not available.


2016 ◽  
Vol 2016 ◽  
pp. 1-11 ◽  
Author(s):  
Chang-Qing Yin ◽  
Chun-Hui Yuan ◽  
Zhen Qu ◽  
Qing Guan ◽  
Hao Chen ◽  
...  

Hepatocellular carcinoma (HCC) is the second leading cause of cancer-related death worldwide due to latent liver disease, late diagnosis, and nonresponse to systemic treatments. Till now, surgical and/or biopsy specimens are still generally used as a gold standard by the clinicians for clinical decision-making. However, apart from their invasive characteristics, tumor biopsy only mirrors a single spot of the tumor, failing to reflect current cancer dynamics and progression. Therefore, it is imperative to develop new diagnostic strategies with significant effectiveness and reliability to monitor high-risk populations and detect HCC at an early stage. In the past decade, the potent utilities of “liquid biopsy” have attracted intense concern and were developed to evaluate cancer progression in several clinical trials. “Liquid biopsies” represent a series of noninvasive tests that detect cancer byproducts easily accessible in peripheral blood, mainly including circulating tumor cells (CTCs) and cell-free nucleic acids (cfNAs) that are shed into the blood from the tumor sites. In this review, we focus on the recent developments in the field of “liquid biopsy” as well as the diagnostic and prognostic significance of CTCs and cfNAs in HCC patients.


2016 ◽  
Vol I (!) ◽  
pp. 1-11
Author(s):  
Gul Shehnaz ◽  
Akhtar Muhammad ◽  
Abdullah ◽  
Muhammad Ilyas

With the discovery of EGFR, it is now quite possible for the scientific world to treat patients with personalized medicine. Liquid biopsy is the invasive technique used to characterize human tumors by examining human body fluid. Different biomarkers are used to analyze tumor cells, but the most common of them is cell-free DNA. Liquid biopsy can identify tumor biomarkers to identify cancer of the lung at the start of the disease. In past studies, it was ascertained that plasma cfDNA concentration in patients with cancer is more in contrast to healthy persons. Numerous analytical ways have been synthesized to know molecular alteration through liquid biopsy. Molecular identification quantification assay as ddPCR make harmony in the detection of changes speed up against with a tumor biopsy. Different biomarkers that are used in liquid lung biopsy are Floating cfDNA and ctDNA, methylated ctDNA, CTCs in lung cancer, exosomes, TEP, and Circulating RNAs.


2015 ◽  
Vol 4 (3) ◽  
pp. 460
Author(s):  
Lekha Srinivasan ◽  
Suchetha M.

Diabetes, a metabolic disease that is characterized by high glucose level in the blood, is a major problem affecting millions of people today. This disease if left unchecked can create enormous implication on the health of the population. Among the various non-invasive methods of detection, breath analysis presents an easier, more accurate and viable method in providing comprehensive clinical care for the disease. This paper examines the concentration of acetone levels in breath for monitoring blood-glucose levels and thus predicting diabetes. The analysis uses the support vector mechanism to classify the response to healthy and diabetic samples. For the analysis, ten subject samples of acetone levels are taken into consideration and are classified according to three labels, which are healthy, type one diabetic and type two diabetic.


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