Deletion analysis of tumor and urinary DNA to detect bladder cancer: Urine supernatant versus urine sediment

Szarvas, Tibor; Kovalszky, Ilona; Bedi, Katalin; Szendrői, Attila; Majoros, Attila; Riesz, Péter; Füle, Tibor; László, Viktória; Kiss, András; Romics, Imre

doi:10.3892/or.18.2.405

Cited by 39 publications

(47 citation statements)

References 22 publications

(33 reference statements)

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“…They obtained 73% sensitivity, with 84% and 83% specificity in healthy individuals and in patients with urological symptoms, respectively. Interestingly, Szarvas et al80 analyzed 12 micro-satellite markers mapped on 6 different chromosomes. They obtained 80% sensitivity and 81% specificity.…”

Section: Urine Cfdnamentioning

confidence: 99%

Cell-free DNA as a diagnostic marker for cancer: current insights

Salvi¹,

Gurioli²,

Giorgi³

et al. 2016

OTT

112

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The increasing knowledge of the molecular pathogenesis of cancer and the rapid development of new molecular techniques are promoting the study of early molecular alterations involved in cancer development in body fluids. Specific genetic and epigenetic alterations could be found in plasma, serum, and urine cell-free DNA (cfDNA) and could potentially be used as diagnostic biomarkers for several types of cancers. This review focuses on the role of cfDNA in diagnosis: a PubMed search was performed by selecting papers according to journal impact factor and robustness of statistical analysis. A comprehensive evaluation of “liquid biopsy”, including cfDNA analysis, will be one of the critical challenges to better understand the early mechanisms of cancer development.

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Section: Urine Cfdnamentioning

confidence: 99%

Cell-free DNA as a diagnostic marker for cancer: current insights

Salvi¹,

Gurioli²,

Giorgi³

et al. 2016

OTT

112

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“…Circulating cell-free DNA has been shown to play an important diagnostic role in colon [10] and lung cancer [11], and a number of studies have also highlighted its potential usefulness in prostate cancer [12–14]. Urine cell-free (UCF) DNA as a source of tumor biomarkers has not been adequately investigated in prostate cancer and only a few recent studies have discussed its potential importance for early bladder cancer diagnosis [15–17]. …”

Section: Introductionmentioning

confidence: 99%

Urine Cell-Free DNA Integrity as a Marker for Early Prostate Cancer Diagnosis: A Pilot Study

Casadio

Calistri

Salvi

et al. 2013

BioMed Research International

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Circulating cell-free DNA has been recognized as an accurate marker for the diagnosis of prostate cancer, whereas the role of urine cell-free DNA (UCF DNA) has never been evaluated in this setting. It is known that normal apoptotic cells produce highly fragmented DNA while cancer cells release longer DNA. We thus verified the potential role of UCF DNA integrity for early prostate cancer diagnosis. UCF DNA was isolated from 29 prostate cancer patients and 25 healthy volunteers. Sequences longer than 250 bp (c-Myc, BCAS1, and HER2) were quantified by real-time PCR to verify UCF DNA integrity. Receiver operating characteristic (ROC) curve analysis revealed an area under the curve of 0.7959 (95% CI 0.6729–0.9188). At the best cut-off value of 0.04 ng/μL, UCF DNA integrity analysis showed a sensitivity of 0.79 (95% CI 0.62–0.90) and a specificity of 0.84 (95% CI 0.65–0.94). These preliminary findings indicate that UCF DNA integrity could be a promising noninvasive marker for the early diagnosis of prostate cancer and pave the way for further research into this area.

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“…71 Likewise, microsatellite analysis of exfoliated urine to detect DNA LOH, combined with performance of UroVysion FISH and conventional urine cytology, enabled detection of over 93% of patients with recurrent bladder cancer. 72 Analysis of urine for microsatellite alterations shows a high correlation with invasive tumor resident within the bladder 73 and exhibits high sensitivity for patients who have invasive cancer. 74 Surprisingly, the most important biomarker of bladder cancer is microscopic or gross hematuria, which occurs in 85% of patients with bladder cancer.…”

Section: Implications For the Detection And Prevention Of Bladder Cancermentioning

confidence: 99%

The origins of bladder cancer

Crawford

2008

Laboratory Investigation

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Bladder cancer, arising from the transitional cells of the mucosal urothelium, may present as a noninvasive, papillary tumor protruding from the mucosal surface, or as a solid, nonpapillary tumor that invades the bladder wall and has a high propensity for metastasis. The nonpapillary tumors originate from in situ dysplasia. The most common environmental risk for bladder cancer is active smoking; occupational exposure to arsenic or other carcinogens is also a risk factor. A possible familial component to bladder cancer has been described. Conventional models of carcinogenesis suppose the existence of successive mutation events within a specific cell clone, enabling its eventual escape from regulation of cell division and maintenance of genomic integrity. Important new information has emerged from whole-organ mapping of the mucosal genome in bladders resected for invasive cancer (Majewski et al, Lab Invest; published online 5 May 2008). Mapping of genetic hits across the entire mucosa demonstrates genetic alterations in six chromosomal regions, not only in mucosal regions of evident dysplasia, but also in morphologically normal mucosa. These clonally expanded regions cover vast expanses of the bladder surface, as a 'first wave' of pre-neoplasia. Target genes in these regions are termed 'forerunner genes' (FR genes), based on the concept that these genes enable the initial clonal expansion of in situ urothelial neoplasia. Extensive further analysis of human populations with urothelial cancer implicates genetic polymorphisms in one of these genes, P2RY5, as being present in a familial cluster of cancers of multiple organs, and as imparting risk for development of bladder cancer in active smokers. P2RY5 is a gene encoded within intron 17 of RB1, a prototypic tumor suppressor gene whose expression is lost at a later stage of bladder carcinogenesis. Alterations of the FR gene status provide a novel opportunity to screen individuals at risk for the earliest stage of bladder pre-neoplasia and represent attractive targets for therapeutic and chemopreventive interventions. These findings support the hypothesis that bladder carcinogenesis is initiated by clonal expansion of genetically altered but histologically normal cells that cover broad expanses of the mucosa. Effort must now be given to identifying the biological function of these novel FR genes. KEYWORDS: bladder cancer; forerunner genes; P2RY5; RB1; whole-organ mapping; genomic mapping EPIDEMIOLOGY OF BLADDER CANCER Bladder cancer is the fourth most incident cancer in males and ninth most incident in females. In the United States, over 67 000 new cases are diagnosed per year, 1 and over 350 000 cases diagnosed worldwide. 2 In the United States, the annual age-adjusted incidence rate for men is approximately 32 per 100 000. 3 Men have a higher risk of bladder cancer than women, by a rate ratio of at least 3:1. Approximately 66% of bladder cancers are diagnosed among individuals age 65 years or older.Bladder cancer arises primarily from the transitional cells of the b...

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Deletion analysis of tumor and urinary DNA to detect bladder cancer: Urine supernatant versus urine sediment

Cited by 39 publications

References 22 publications

Cell-free DNA as a diagnostic marker for cancer: current insights

Cell-free DNA as a diagnostic marker for cancer: current insights

Urine Cell-Free DNA Integrity as a Marker for Early Prostate Cancer Diagnosis: A Pilot Study

The origins of bladder cancer

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