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https://www.readbyqxmd.com/read/29161279/whole-exome-sequencing-for-determination-of-tumor-mutation-load-in-liquid-biopsy-from-advanced-cancer-patients
#1
Florence Koeppel, Steven Blanchard, Cécile Jovelet, Bérengère Genin, Charles Marcaillou, Emmanuel Martin, Etienne Rouleau, Eric Solary, Jean-Charles Soria, Fabrice André, Ludovic Lacroix
Tumor mutation load (TML) has been proposed as a biomarker of patient response to immunotherapy in several studies. TML is usually determined by tumor biopsy DNA (tDNA) whole exome sequencing (WES), therefore TML evaluation is limited by informative biopsy availability. Circulating cell free DNA (cfDNA) provided by liquid biopsy is a surrogate specimen to biopsy for molecular profiling. Nevertheless performing WES on DNA from plasma is technically challenging and the ability to determine tumor mutation load from liquid biopsies remains to be demonstrated...
2017: PloS One
https://www.readbyqxmd.com/read/29156792/liquid-biopsy-in-colon-cancer-comparison-of-different-circulating-dna-extraction-systems-following-absolute-quantification-of-kras-mutations-using-intplex-allele-specific-pcr
#2
Vera Kloten, Nadine Rüchel, Nadina Ortiz Brüchle, Janina Gasthaus, Nils Freudenmacher, Florian Steib, Jolein Mijnes, Julian Eschenbruch, Marcel Binnebösel, Ruth Knüchel, Edgar Dahl
Non-invasive molecular analysis of circulating tumor DNA (ctDNA) is a promising application in personalized cancer management, although there is still much to learn about the biological characteristics of ctDNA. The present study compared absolute amounts of KRAS mutated ctDNA and total circulating cell-free DNA (cfDNA) in colorectal cancer (CRC) patients (n=50) from various stages and healthy controls (n=8) by Intplex allele-specific and digital droplet PCR. In addition, the impact of two prominent extraction techniques (silica-based membrane vs...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29155757/dissection-of-human-retina-and-rpe-choroid-for-proteomic-analysis
#3
Thiago Cabral, Marcus A Toral, Gabriel Velez, James E DiCarlo, Anuradha M Gore, MaryAnn Mahajan, Stephen H Tsang, Alexander G Bassuk, Vinit B Mahajan
The human retina is composed of the sensory neuroretina and the underlying retinal pigmented epithelium (RPE), which is firmly complexed to the vascular choroid layer. Different regions of the retina are anatomically and molecularly distinct, facilitating unique functions and demonstrating differential susceptibility to disease. Proteomic analysis of each of these regions and layers can provide vital insights into the molecular process of many diseases, including Age-Related Macular Degeneration (AMD), diabetes mellitus, and glaucoma...
November 12, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29155727/microrna-based-liquid-biopsy-the-experience-of-the-plasma-mirna-signature-classifier-msc-for-lung-cancer-screening
#4
Mavis Mensah, Cristina Borzi, Carla Verri, Paola Suatoni, Davide Conte, Ugo Pastorino, Fortunato Orazio, Gabriella Sozzi, Mattia Boeri
The development of a minimally invasive test, such as liquid biopsy, for early lung cancer detection in its preclinical phase is crucial to improve the outcome of this deadly disease. MicroRNAs (miRNAs) are tissue specific, small, non-coding RNAs regulating gene expression, which may act as extracellular messengers of biological signals derived from the cross-talk between the tumor and its surrounding microenvironment. They could thus represent ideal candidates for early detection of lung cancer. In this work, a methodological workflow for the prospective validation of a circulating miRNA test using custom made microfluidic cards and quantitative Real-Time PCR in plasma samples of volunteers enrolled in a lung cancer screening trial is proposed...
October 26, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29155161/extracellular-vesicles-compartment-in-liquid-biopsies-clinical-application
#5
REVIEW
Noemi Garcia-Romero, Susana Esteban-Rubio, Gorjana Rackov, Josefa Carrión-Navarro, Cristobal Belda-Iniesta, Angel Ayuso-Sacido
Liquid biopsy is becoming a new source of biomarkers that complement and resolve some of the most important limitations of surgical biopsy, which are the accessibility to the diseased tissue and its heterogeneity, especially relevant for tumors. The diseased tissues release their molecule content to the bloodstream in free form, inside a cell or within extracellular vesicles (EVs). While the identification of molecular alterations in total DNA isolated from peripheral blood is already in use for some tumors that secrete large amounts of DNA, it is challenging to assay those secreting lower amounts of molecules as well as for many other non-tumoral pathologies like immunological and cardiovascular diseases...
November 16, 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/29154448/significance-of-bizarre-cells-in-cervical-screening-liquid-based-cytology-a-prospective-study-of-15-cases
#6
O Ondič, R Ferko, J Kičinová, J Bouda, I Kinkorová-Luňáčková, L Kupcová, M Zůchová, J Chytra, T Waloschek, M Tůmová Bartošková, R Alaghehbandan, J Němcová
OBJECTIVE: The aim of this study was to assess the significance of bizarre cells (cells of squamous origin with a superficial squamous cell-type cytoplasm and characterised by multinucleation that produces bizarre nuclear shapes) in liquid-based cytology (LBC) Papanicoaou (pap) smears with clinical and histological follow-up correlation. METHODS: Fifteen patients, all with LBC samples containing bizarre cells, were identified in routine ThinPrep(®) LBC workload...
November 20, 2017: Cytopathology: Official Journal of the British Society for Clinical Cytology
https://www.readbyqxmd.com/read/29152135/evaluation-of-pre-analytical-conditions-and-comparison-of-the-performance-of-several-digital-pcr-assays-for-the-detection-of-major-egfr-mutations-in-circulating-dna-from-non-small-cell-lung-cancers-the-circan_0-study
#7
Jessica Garcia, Eric Dusserre, Valérie Cheynet, Pierre Paul Bringuier, Karen Brengle-Pesce, Anne-Sophie Wozny, Claire Rodriguez-Lafrasse, Gilles Freyer, Marie Brevet, Léa Payen, Sébastien Couraud
Non invasive somatic detection assays are suitable for repetitive tumor characterization or for detecting the appearance of somatic resistance during lung cancer. Molecular diagnosis based on circulating free DNA (cfDNA) offers the opportunity to track the genomic evolution of the tumor, and was chosen to assess the molecular profile of several EGFR alterations, including deletions in exon 19 (delEX19), the L858R substitution on exon 21 and the EGFR resistance mutation T790M on exon 20. Our study aimed at determining optimal pre-analytical conditions and EGFR mutation detection assays for analyzing cfDNA using the picoliter-droplet digital polymerase chain reaction (ddPCR) assay...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29152097/identifying-and-analyzing-different-cancer-subtypes-using-rna-seq-data-of-blood-platelets
#8
Yu-Hang Zhang, Tao Huang, Lei Chen, YaoChen Xu, Yu Hu, Lan-Dian Hu, Yudong Cai, Xiangyin Kong
Detection and diagnosis of cancer are especially important for early prevention and effective treatments. Traditional methods of cancer detection are usually time-consuming and expensive. Liquid biopsy, a newly proposed noninvasive detection approach, can promote the accuracy and decrease the cost of detection according to a personalized expression profile. However, few studies have been performed to analyze this type of data, which can promote more effective methods for detection of different cancer subtypes...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29150911/jak2-v617f-mutation-can-be-reliably-detected-in-serum-using-droplet-digital-pcr
#9
C F Nystrand, W Ghanima, A Waage, C M Jonassen
INTRODUCTION: Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN). Sensitive real-time quantitative PCR (qPCR) detection on peripheral blood (PB) is the most widely used method. The main objective of this study was to determine whether serum, the most common material available in archival biobanks, is a good liquid biopsy for detecting and quantifying the JAK2 V617F mutation using droplet digital PCR (ddPCR). METHODS: Paired PB and serum samples from 66 patients with MPN were used...
November 17, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29150302/skin-advanced-glycation-content-reflects-vaginal-tissue-glycation-level-in-relation-to-pregnancy
#10
Homayemem Weli, Jason Cooper, Ying Yang
A few studies have revealed that the advanced glycation content of the vaginal wall in pelvic organ prolapse tissues is elevated. This elevation makes advanced glycation a significant association with the disease. Early detection of vaginal wall glycation could therefore be relevant in the prevention and management of pelvic organ prolapse. A vaginal wall biopsy to detect this would be ideal, but is invasive. Therefore the use of a more accessible organ to access, such as skin, would be beneficial. Our previous independent study suggests that conditions such as pregnancy, can induce a change in the vaginal tissues' glycation content...
November 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29147109/colorectal-cancer-blood-based-biomarkers
#11
REVIEW
Nina Hauptman, Damjan Glavač
Mortality and morbidity associated with colorectal cancer (CRC) are increasing globally, partly due to lack of early detection of the disease. The screening is usually performed with colonoscopy, which is invasive and unpleasant, discouraging participation in the screening. As a source of noninvasive and easily accessible biomarkers, liquid biopsies are emerging. Blood-based biomarkers have the potential as diagnostic and prognostic tool in CRC. Early stage detection of CRC with high sensitivity and specificity would likely lead to higher participation in the screening test...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/29140880/high-risk-human-papillomavirus-determination-in-formalin-fixed-paraffin-embedded-cervical-tissue-using-the-roche-cobas-4800-system-a-comparative-study-with-liquid-based-cytology
#12
Juan C Tardío, Olivia Cambero, Carolina Sánchez-Estévez, Ana B Sánchez-García, Fernando Angulo, Amalia Moreno
Roche cobas 4800 human papillomavirus (HPV) test is an automated real-time polymerase chain reaction-based system that allows the simultaneous detection of 14 human papillomavirus high-risk (HR-HPV) genotypes. This test is Food and Drug Administration approved since 2011 for HPV determination in liquid-based cytologic samples, but a clinically validated technique for formalin-fixed, paraffin-embedded (FFPE) tissue specimens is presently not commercially available. In our laboratory, we have developed an HPV detection procedure in FFPE tissue by cobas 4800 HPV test...
November 14, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/29137355/a-pilot-study-evaluating-concordance-between-blood-based-and-patient-matched-tumor-molecular-testing-within-pancreatic-cancer-patients-participating-in-the-know-your-tumor-kyt-initiative
#13
Michael J Pishvaian, R Joseph Bender, Lynn M Matrisian, Lola Rahib, Andrew Hendifar, William A Hoos, Sam Mikhail, Vincent Chung, Vincent Picozzi, Craig Heartwell, Kimberly Mason, Katelyn Varieur, Metasebia Aberra, Subha Madhavan, Emanuel Petricoin, Jonathan R Brody
Recent improvements in next-generation sequencing (NGS) technology have enabled detection of biomarkers in cell-free DNA in blood and may ultimately replace invasive tissue biopsies. However, a better understanding of the performance of blood-based NGS assays is needed prior to routine clinical use. As part of an IRB-approved molecular profiling registry trial of pancreatic ductal adenocarcinoma (PDA) patients, we facilitated blood-based NGS testing of 34 patients from multiple community-based and high-volume academic oncology practices...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29137122/peptide-nucleic-acid-based-biosensors-for-cancer-diagnosis
#14
REVIEW
Roberta D'Agata, Maria Chiara Giuffrida, Giuseppe Spoto
The monitoring of DNA and RNA biomarkers freely circulating in the blood constitutes the basis of innovative cancer detection methods based on liquid biopsy. Such methods are expected to provide new opportunities for a better understanding of cancer disease at the molecular level, thus contributing to improved patient outcomes. Advanced biosensors can advance possibilities for cancer-related nucleic acid biomarkers detection. In this context, peptide nucleic acids (PNAs) play an important role in the fabrication of highly sensitive biosensors...
November 11, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29133621/the-mutational-landscape-of-gastrointestinal-malignancies-as-reflected-by-circulating-tumor-dna
#15
Paul Riviere, Paul T Fanta, Sadakatsu Ikeda, Joel Baumgartner, Gregory M Heestand, Razelle Kurzrock
We aimed to assess the utility of a novel, non-invasive method of detecting genomic alterations in patients with gastrointestinal malignancies i.e., the use of liquid biopsies to obtain blood-derived circulating tumor DNA (ctDNA) through an analysis of the genomic landscape of ctDNA (68 genes) from 213 patients with advanced gastrointestinal cancers. The most common cancer types were colorectal adenocarcinoma (N=55 (26%)), appendiceal adenocarcinoma (N=46 (22%)), hepatocellular carcinoma (N=31 (15%)), and pancreatic ductal adenocarcinoma (N=25 (12%))...
November 13, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/29132396/circulating-cell-free-dna-and-circulating-tumor-cells-the-liquid-biopsies-in-ovarian-cancer
#16
REVIEW
Xianliang Cheng, Lei Zhang, Yajuan Chen, Chen Qing
Limited understanding of ovarian cancer (OC) genome portrait has hindered the therapeutic advances. The serial monitoring of tumor genotypes is becoming increasingly attainable with circulating cell-free DNA (cf-DNA) and circulating tumor cells (CTCs) emerging as "liquid biopsies". They represent non-invasive biomarkers and are viable, as they can be isolated from human plasma, serum and other body fluids. Molecular characterization of circulating tumor DNA (ct-DNA) and CTCs offer unique potentials to better understand the biology of metastasis and resistance to therapies...
November 13, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/29129161/navigation-through-inter-and-intratumoral-heterogeneity-of-endocrine-resistance-mechanisms-in-breast-cancer-a-potential-role-for-liquid-biopsies
#17
Florian Reinhardt, André Franken, Tanja Fehm, Hans Neubauer
The majority of breast cancers are hormone receptor positive due to the expression of the estrogen and/or progesterone receptors. Endocrine therapy is a major treatment option for all disease stages of hormone receptor-positive breast cancer and improves overall survival. However, endocrine therapy is limited by de novo and acquired resistance. Several factors have been proposed for endocrine therapy failures, which include molecular alterations in the estrogen receptor pathway, altered expression of cell-cycle regulators, autophagy, and epithelial-to-mesenchymal transition as a consequence of tumor progression and selection pressure...
November 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/29128212/liver-proteomic-analysis-of-postpartum-holstein-cows-exposed-to-heat-stress-or-cooling-conditions-during-the-dry-period
#18
Amy L Skibiel, Maya Zachut, Bruno C do Amaral, Yishai Levin, Geoffrey E Dahl
Heat stress negatively affects cow performance, compromises immune function, and increases susceptibility to metabolic disorders, particularly during the dry period and as cows transition from gestation to lactation. Metabolic adaptations of the liver are critical for successful transition, yet it is unclear how heat stress affects metabolic pathways within the liver at the proteomic level. The objective of this study was to investigate the liver proteome of postpartum cows that were cooled or heat stressed during the dry period to gain insight into how protein expression is altered by prior heat stress and may contribute to performance and disease outcomes...
November 8, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29125548/liquid-biopsy-and-therapeutic-targets-present-and-future-issues-in-thoracic-oncology
#19
REVIEW
Paul Hofman
The practice of liquid biopsy (LB) has revolutionized the care of patients with metastatic lung cancer. Many oncologists now use this approach in daily practice, applying precise procedures for the detection of activating or resistance mutations in EGFR. These tests are performed with plasma DNA and have been approved as companion diagnostic test for patients treated with tyrosine kinase inhibitors. ALK is another important target in lung cancer since it leads to treatment of patients who are positive for a rearrangement in ALK identified with tumor tissue...
November 10, 2017: Cancers
https://www.readbyqxmd.com/read/29122836/multiplex-gene-expression-profiling-of-in-vivo-isolated-circulating-tumor-cells-in-high-risk-prostate-cancer-patients
#20
Athina Markou, Marifili Lazaridou, Panagiotis Paraskevopoulos, Shukun Chen, Monika Świerczewska, Joanna Budna, Andra Kuske, Tobias M Gorges, Simon A Joosse, Thomas Kroneis, Maciej Zabel, Peter Sedlmayr, Catherine Alix-Panabières, Klaus Pantel, Evi S Lianidou
BACKGROUND: Molecular characterization of circulating tumor cells (CTCs) is important for selecting patients for targeted treatments. We present, for the first time, results on gene expression profiling of CTCs isolated in vivo from high-risk prostate cancer (PCa) patients compared with CTC detected by 3 protein-based assays-CellSearch®, PSA-EPISPOT, and immunofluorescence of CellCollector® in vivo-captured CTCs-using the same blood draw. METHODS: EpCAM-positive CTCs were isolated in vivo using the CellCollector from 108 high-risk PCa patients and 36 healthy volunteers...
November 9, 2017: Clinical Chemistry
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