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Cell free circulating cancer DNA

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https://www.readbyqxmd.com/read/28636991/non-invasive-detection-of-somatic-mutations-using-next-generation-sequencing-in-primary-central-nervous-system-lymphoma
#1
Maxime Fontanilles, Florent Marguet, Élodie Bohers, Pierre-Julien Viailly, Sydney Dubois, Philippe Bertrand, Vincent Camus, Sylvain Mareschal, Philippe Ruminy, Catherine Maingonnat, Stéphane Lepretre, Elena-Liana Veresezan, Stéphane Derrey, Hervé Tilly, Jean-Michel Picquenot, Annie Laquerrière, Fabrice Jardin
PURPOSE: Primary central nervous system lymphomas (PCNSL) have recurrent genomic alterations. The main objective of our study was to demonstrate that targeted sequencing of circulating cell-free DNA (cfDNA) released by PCNSL at the time of diagnosis could identify somatic mutations by next-generation sequencing (NGS). PATIENTS AND METHODS: PlasmacfDNA and matched tumor DNA (tDNA) from 25 PCNSL patients were sequenced using an Ion Torrent Personal Genome Machine (Life Technologies®)...
June 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28629339/droplet-digital-pcr-for-detection-and-quantification-of-circulating-tumor-dna-in-plasma-of-head-and-neck-cancer-patients
#2
Joost H van Ginkel, Manon M H Huibers, Robert J J van Es, Remco de Bree, Stefan M Willems
BACKGROUND: During posttreatment surveillance of head and neck cancer patients, imaging is insufficiently accurate for the early detection of relapsing disease. Free circulating tumor DNA (ctDNA) may serve as a novel biomarker for monitoring tumor burden during posttreatment surveillance of these patients. In this exploratory study, we investigated whether low level ctDNA in plasma of head and neck cancer patients can be detected using Droplet Digital PCR (ddPCR). METHODS: TP53 mutations were determined in surgically resected primary tumor samples from six patients with high stage (II-IV), moderate to poorly differentiated head and neck squamous cell carcinoma (HNSCC)...
June 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28629197/reply-to-the-letter-to-the-editor-by-c-nicolazzo-et-al-circulating-cell-free-dna-and-circulating-tumor-cells-as-prognostic-and-predictive-biomarkers-in-advanced-non-small-cell-lung-cancer-patients-treated-with-first-line-chemotherapy
#3
https://www.readbyqxmd.com/read/28623396/assessment-of-the-circulating-cell-free-dna-marker-association-with-diagnosis-and-prognostic-prediction-in-patients-with-lymphoma-a-single-center-experience
#4
Mao Li, Yongqian Jia, Juan Xu, Xiaomin Cheng, Caigang Xu
Circulating cell-free DNA (ccfDNA) has been shown to be associated with the clinical characteristics and prognosis of cancer patients. Our objective was to assess whether the concentration and integrity index of ccfDNA in plasma may be useful for diagnosing and monitoring the progression of patients with lymphoma. We included plasma samples from 174 lymphoma patients and 80 healthy individuals. The total concentration of ccfDNA was determined using a fluorometry method, and the DNA integrity index (DII), which is the ratio of longer to shorter DNA fragments, for the APP gene was detected using real-time quantitative PCR...
June 16, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28614831/liquid-biopsies-for-monitoring-temporal-genomic-heterogeneity-in-breast-and-colon-cancers
#5
Tiziana Venesio, Giulia Siravegna, Alberto Bardelli, Anna Sapino
Cancer is a spatial and temporal dynamic disease where differently evolving genetic clones are responsible for progression. In this landscape, the genomic heterogeneity of the primary tumours can be captured by deep-sequencing representative spatial samples. However, the recognition of genetic alterations responsible for tumour evolution remains a challenging task. Recently, the "liquid biopsy" was recognized as a powerful real-time approach for the molecular monitoring of this dynamic disease. The term "liquid biopsy" generally refers to the use of circulating (cell-free) tumour DNA (ctDNA) and circulating tumour cells (CTCs) as non-invasive biomarkers for the early diagnosis, prognosis, monitoring of clinical progression, and response to treatment in different types of tumours, including the highly genomic heterogeneous breast cancer...
June 15, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28601386/detection-of-alk-and-kras-mutations-in-circulating-tumor-dna-of-patients-with-advanced-alk-positive-nsclc-with-disease-progression-during-crizotinib-treatment
#6
Paola Bordi, Marcello Tiseo, Eleonora Rofi, Iacopo Petrini, Giuliana Restante, Romano Danesi, Marzia Del Re
BACKGROUND: In patients with anaplastic lymphoma kinase (ALK)-positive non-small-cell lung cancer (NSCLC), disease progression occurs after a median of 9 to 10 months of crizotinib treatment. Several mechanisms of resistance have been identified and include ALK mutations and amplification or the activation of bypassing signaling pathways. Rebiopsy in NSCLC patients represents a critical issue and the analysis of circulating cell-free DNA (cfDNA) has a promising role for the identification of resistance mechanisms...
May 18, 2017: Clinical Lung Cancer
https://www.readbyqxmd.com/read/28599456/dynamic-monitoring-of-egfr-mutations-in-circulating-cell-free-dna-for-egfr-mutant-metastatic-patients-with-lung-cancer-early-detection-of-drug-resistance-and-prognostic-significance
#7
Jianjiao Ni, Linqian Weng, Yi Liu, Zhao Sun, Chunmei Bai, Yingyi Wang
Detecting genetic mutations in circulating cell-free DNA (cfDNA) is a promising approach of liquid biopsy. Between June 2014 and May 2015, 168 plasma samples were collected monthly from 20 patients with metastatic lung adenocarcinoma with epidermal growth factor receptor (EGFR) mutation receiving gefitinib therapy. Clinically relevant EGFR mutations, including exon 19 deletion, L858R and T790M, were quantified using droplet digital polymerase chain reaction. In baseline samples, 19 (95.0%) patients had the same mutation with the matched tumors, and pretreatment T790M mutations were also detected in 3 (15...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28592703/real-time-transferrin-based-pet%C3%A2-detects-myc-positive-prostate-cancer
#8
Rahul Aggarwal, Spencer Behr, Pamela L Paris, Charles Truillet, Matthew F L Parker, Loc T Huynh, Junnian Wei, Byron Hann, Jack Youngren, Gayatri Premasekharan, Jiaoti Huang, Nimna Ranatunga, Emily Chang, Kenneth T Gao, Charles J Ryan, Eric J Small, Michael J Evans
Non-invasive biomarkers that detect the activity of important oncogenic drivers could significantly improve cancer diagnosis and management of treatment. The goal of this study was to determine if 68Ga-citrate (which avidly binds to circulating transferrin) labeled transferrin (Tf) can detect MYC-positive prostate cancer tumors, since the transferrin receptor is a direct MYC target gene. Positron emission tomography (PET) imaging paired with 68Ga-citrate and molecular analysis of preclinical models, human cell-free DNA (cfDNA) and clinical biopsies were conducted to determine whether 68Ga-citrate can detect MYC-positive prostate cancer...
June 7, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28592327/is-detection-of-intraperitoneal-exfoliated-tumor-cells-after-surgical-resection-of-rectal-cancer-a-prognostic-factor-of-survival
#9
Christian Arstad, Paulo Refinetti, Annette Torgunrud Kristensen, Karl-Erik Giercksky, Per Olaf Ekstrøm
BACKGROUND: The prognostic significance of free cancer cells detected in peritoneal fluid at the time of rectal surgery remains unclear. A substantial number of patients will develop metastatic disease even with successful local treatment. This prospective non-randomized study investigated the prognostic value of intraperitoneal free cancer cells harvested in peritoneal lavage after surgery for rectal cancer. Mutational hotspots in mitochondrial DNA were examined as potential molecular signatures to detect circulating intraperitoneal free cancer cells when present in primary tumor and in lavage...
June 7, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28591711/dna-hypomethylation-of-cbs-promoter-induced-by-folate-deficiency-is-a-potential-noninvasive-circulating-biomarker-for-colorectal-adenocarcinomas
#10
Geng Xue, Chao-Jing Lu, Shu-Jun Pan, Yin-Ling Zhang, Hui Miao, Shi Shan, Xiao-Ting Zhu, Yi Zhang
Aberrant DNA methylation patterns, which induced by folate deficiency, play important roles in tumorigenesis of colorectal cancer (CRC). Some DNA methylation alterations can also be detected in cell-free DNA (cfDNA) of patients' plasma, making cfDNA an ideal noninvasive circulating biomarker. However, exact DNA methylation alterations induced by folate deficiency in tumorigenesis of CRC and exact potential circulating cfDNA methylation biomarker are still unclear. Therefore, DNA methylation patterns of the normal human colon mucosal epithelial cell line (NCM460), cultured with normal or low folate content, were screened and the DNA hypomethylation of cystathionine-beta-synthase (CBS) promoter was further validated in vitro and vivo...
May 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28587748/liquid-biopsy-of-pik3ca-mutations-in-cervical-cancer-in-hong-kong-chinese-women
#11
Tony K H Chung, Tak Hong Cheung, So Fan Yim, Mei Yun Yu, Rossa W K Chiu, Keith W K Lo, Ida P C Lee, Raymond R Y Wong, Kitty K M Lau, Vivian W Wang, Michael J Worley, Kevin M Elias, Stephen J Fiascone, David I Smith, Ross S Berkowitz, Yick Fu Wong
INTRODUCTION: Cervical cancer is the fourth most common female cancer worldwide. The prognosis for women with advanced-stage or recurrent cervical cancer remains poor and response to treatment is variable. Standardized management protocols leave little room for individualization. We report on a novel blood-based liquid biopsy for specific PIK3CA mutations as a clinically useful biomarker in patients with invasive cervical cancer. METHODS: One hundred seventeen Hong Kong Chinese women with primary invasive cervical cancer and their pre-treatment plasma samples were investigated...
June 3, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28577941/quantitative-cell-free-circulating-egfr-mutation-concentration-is-correlated-with-tumor-burden-in-advanced-nsclc-patients
#12
Yan-Juan Zhu, Hai-Bo Zhang, Yi-Hong Liu, Fu-Li Zhang, Ya-Zhen Zhu, Yong Li, Jian-Ping Bai, Li-Rong Liu, Yan-Chun Qu, Xin Qu, Xian Chen, Yan Li, Guang-Juan Zheng
OBJECTIVES: Droplet digital polymerase chain reaction (ddPCR) has shown sufficient concordance in detecting plasma epidermal growth factor receptor (EGFR) status in non-small cell lung cancer (NSCLC), compared to tumor tissues. However, the clinical significance of the quantitative plasma mutated EGFR concentration remains unknown. The purpose of this study was to explore the relationship of plasma mutated EGFR concentration with tumor burden in advanced NSCLC patients. MATERIALS AND METHODS: Using ddPCR, plasma DNA samples prior to administration of therapies from 113 consecutive NSCLC patients were analyzed for EGFR L858R substitution and deletion of exon19 (ex19del)...
July 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28552765/comprehensive-analysis-of-the-discordance-of-egfr-mutation-status-between-tumor-tissues-and-matched-circulating-tumor-dna-in-advanced-non-small-cell-lung-cancer
#13
Rui Wan, Zhijie Wang, J Jack Lee, Shuhang Wang, Qingqing Li, Fuchou Tang, Jin Wang, Yu Sun, Hua Bai, Di Wang, Jun Zhao, Jianchun Duan, Minglei Zhuo, Tongtong An, Meina Wu, Zhaoli Chen, Zhenlin Yang, Jie Wang
INTRODUCTION: This study aimed to address the underlying reasons and clinical significance of the discordant epidermal growth factor receptor mutation (EGFRm) status between tumor tissues (T) and circulating tumor DNA (ctDNA, C). METHODS: Three groups of EGFR tyrosine kinase inhibitors (EGFR-TKIs) treated patients whose EGFRm were determined by Amplification Refractory Mutation System (ARMS) were included (Group A: EGFRm T+/C+; Group B: EGFRm T-/C+; and Group C: EGFRm T+/C-)...
May 25, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28550083/normal-and-cancerous-tissues-release-extrachromosomal-circular-dna-eccdna-into-the-circulation
#14
Pankaj Kumar, Laura W Dillon, Yoshiyuki Shibata, Amir A Jazaeri, David R Jones, Anindya Dutta
Cell-free circulating linear DNA is being explored for noninvasive diagnosis and management of tumors and fetuses, the so-called liquid biopsy. Previously, we observed the presence of small extrachromosomal circular DNA (eccDNA), called microDNA, in the nuclei of mammalian tissues and cell lines. Now, we demonstrate that cell-free microDNA derived from uniquely mapping regions of the genome is detectable in plasma and serum from both mice and humans and that they are significantly longer (30%-60% >250 bases) than cell-free circulating linear DNA (∼150 bases)...
May 26, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28540249/liquid-biopsies-for-bladder-cancer
#15
EDITORIAL
Douglas G Ward, Richard T Bryan
The development of accurate urinary biomarkers for the non-invasive detection of urothelial bladder cancer (UBC) could transform patient pathways by reducing reliance on cystoscopy, and the identification of highly prognostic (or even predictive) biomarkers could better guide patient management. A number of approaches are being utilised to address these challenges in both urinary- and plasma-borne tumour DNA (tDNA), so-called "liquid biopsies". Next generation sequencing (NGS) and droplet digital PCR (ddPCR) allow detection of very low levels of such tDNA amongst a large excess of non-tumour DNA, the former permitting large mutation panels to be assessed and the latter potentially identifying ultrarare mutant alleles yet restricted for multiplexing...
April 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28534994/amplification-and-the-clinical-significance-of-circulating-cell-free-dna-of-pvt1-in-breast-cancer
#16
Xujing Li, Weijuan Chen, Hui Wang, Qun Wei, Xiaodi Ding, Wentong Li
Duplication in the chromosome 8q24 region is a frequent occurrence in carcinomas. The PVT1 oncogene (PVT1), a long non-coding RNA, is found in this locus. PVT1 amplification is a frequent event in cancers, such as in lymphomas, serous ovarian, colorectal and breast cancers. Ectopic PVT1 expression is related with reduced survival duration in cancer patients. in the present study, we proved that PVT1 is markedly augmented in breast cancer tissues compared with adjacent non-tumorous tissues. Thus, PVT1 is an independent prognostic factor for the survival duration of breast cancer patients...
May 18, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28529550/hormonoresistance-in-advanced-breast-cancer-a-new-revolution-in-endocrine-therapy
#17
REVIEW
Paule Augereau, Anne Patsouris, Emmanuelle Bourbouloux, Carole Gourmelon, Sophie Abadie Lacourtoisie, Dominique Berton Rigaud, Patrick Soulié, Jean Sebastien Frenel, Mario Campone
Endocrine therapy is the mainstay of treatment of estrogen-receptor-positive (ER+) breast cancer with an overall survival benefit. However, some adaptive mechanisms in the tumor emerge leading to the development of a resistance to this therapy. A better characterization of this process is needed to overcome this resistance and to develop new tailored therapies. Mechanisms of resistance to hormone therapy result in activation of transduction signal pathways, including the cell cycle regulation with cyclin D/CDK4/6/Rb pathway...
May 2017: Therapeutic Advances in Medical Oncology
https://www.readbyqxmd.com/read/28525906/copy-number-variations-of-circulating-cell-free-dna-in-urothelial-carcinoma-of-the-bladder-patients-treated-with-radical-cystectomy-a-prospective-study
#18
Armin Soave, Felix K-H Chun, Timo Hillebrand, Michael Rink, Lars Weisbach, Bettina Steinbach, Margit Fisch, Klaus Pantel, Heidi Schwarzenbach
The aim of the present study was to establish a rapid profiling method using multiplex ligation-dependent probe amplification (MLPA) and characterize copy number variations (CNV) in circulating, cell-free DNA (cfDNA) in 85 urothelial carcinoma of the bladder (UCB) patients treated with radical cystectomy (RC). MLPA was tested for the use of cfDNA extracted from serum and plasma by various commercial extraction kits. Eighteen probes served as reference to control denaturation, ligation and amplification efficiency...
May 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28522829/somatic-tumor-mutations-detected-by-targeted-next-generation-sequencing-in-minute-amounts-of-serum-derived-cell-free-dna
#19
Marjolein J A Weerts, Ronald van Marion, Jean C A Helmijr, Corine M Beaufort, Niels M G Krol, Anita M A C Trapman-Jansen, Winand N M Dinjens, Stefan Sleijfer, Maurice P H M Jansen, John W M Martens
The use of blood-circulating cell-free DNA (cfDNA) as 'liquid-biopsy' is explored worldwide, with hopes for its potential in providing prognostic or predictive information in cancer treatment. In exploring cfDNA, valuable repositories are biobanks containing material collected over time, however these retrospective cohorts have restrictive resources. In this study, we aimed to detect tumor-specific mutations in only minute amounts of serum-derived cfDNA by using a targeted next generation sequencing (NGS) approach...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28515105/free-circulating-methylated-dna-in-blood-for-diagnosis-staging-prognosis-and-monitoring-of-head-and-neck-squamous-cell-carcinoma-patients-an-observational-prospective-cohort-study
#20
Andreas Schröck, Annette Leisse, Luka de Vos, Heidrun Gevensleben, Freya Dröge, Alina Franzen, Malin Wachendörfer, Friederike Schröck, Joerg Ellinger, Marcus Teschke, Timo Wilhelm-Buchstab, Jennifer Landsberg, Stefan Holdenrieder, Gunther Hartmann, John K Field, Friedrich Bootz, Glen Kristiansen, Dimo Dietrich
BACKGROUND: Circulating cell-free DNA methylation testing in blood has recently received regulatory approval for screening of colorectal cancer. Its application in other clinical settings, including staging, prognosis, prediction, and recurrence monitoring is highly promising, and of particular interest in head and neck squamous cell carcinomas (HNSCC) that represent a heterogeneous group of cancers with unsatisfactory treatment guidelines. METHODS: Short stature homeobox 2 (SHOX2) and septin 9 (SEPT9) DNA methylation in plasma from 649 prospectively enrolled patients (training study: 284 HNSCC/122 control patients; testing study: 141 HNSCC/102 control patients) was quantified before treatment and longitudinally during surveillance...
May 17, 2017: Clinical Chemistry
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