Detection of Bladder Cancer in Urine Sediments by a Novel Multicolor Fluorescence In Situ Hybridization (Quartet) Test

Zhang, Shizhen; Wang, Yan; Bondaruk, Jolanta; Majewski, Tadeusz; Yao, Hui; Lee, Sangkyou; Lee, June Goo; Cogdell, David; Lotan, Yair; Dinney, Colin P.; Wei, Peng; Baggerly, Keith A.; Czerniak, Bogdan

doi:10.1016/j.euf.2018.01.017

Cited by 5 publications

(4 citation statements)

References 36 publications

(48 reference statements)

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“…Copy number analyses of multiple-gene panels have revealed that copy number amplification and deletion mutation rate are related to tumor progression stage. 26 , 30 Integrated analysis has demonstrated that most bladder cancer samples, regardless of clinical stage or degree of tumor differentiation, have similar chromosomal copy number variation patterns. The higher level of tumor differentiation, the regions and types of chromosomal CNAs become more extensive.…”

Section: Discussionmentioning

confidence: 99%

“…These results are largely consistent with the results of previous genome copy number variation analyses in patients with bladder cancer. 7,8,26 The regions with copy number variation contain multiple genes related to the pathogenesis of cancer development, including CDKN2A, C9orf53, MIR31, FGFR3, p53, MMPs, TSP1, and COX2 6 . These results suggest that the use of low-coverage whole-genome sequencing to detect copy number variation in urine sediment DNA is useful for noninvasive diagnosis of bladder cancer.…”

Section: Discussionmentioning

confidence: 99%

“…Droplet digital PCR may be used to quantify a single mutant alleles and deep targeted sequencing may be used for assessment of multiple allele panels. [25][26][27][37][38][39] Moreover, comparative genomic hybridization technology can be used to detect chromosomal aneuploidy in urinary exfoliated cells from patients with bladder cancer. Because of background interference from other DNA in urinary exfoliated cells, this method has limited sensitivity and specificity and has not been widely used.…”

Section: Discussionmentioning

confidence: 99%

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Low-Coverage Sequencing of Urine Sediment DNA for Detection of Copy Number Aberrations in Bladder Cancer

Cai

Yang

Lin

et al. 2021

CMAR

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Purpose Chromosomal copy number aberrations (CNAs) are a hallmark of bladder cancer and a useful target for diagnostic explorations. Here we constructed a low-coverage whole-genome sequencing method for the detection of CNAs in urine sediment DNA from patients with bladder cancer. Patients and Methods We conducted a prospective study using urine sediment samples from 65 patients with bladder tumors, including 54 patients with bladder cancer and 11 patients with benign bladder tumors. Forty-three healthy individuals were included as normal controls. DNA was extracted from urine sediments and analyzed by low-coverage whole-genome sequencing to compare differences in CNAs among these three groups. CNAs are defined by arbitrary R values (normal range ± 2). When these values exceed ± 0.2 of normal range, gain/duplication or loss/deletion are suspected. Results With this method, CNAs were detected in 39 of 51 patients with bladder cancer, 2 of 10 patients with benign bladder tumors, and 8 of 39 normal controls. The lengths of DNA deletion and duplication were significantly larger in patients with bladder cancer than in patients with benign tumors or normal controls (P < 0.05). Bladder cancer duplicate CNAs mainly occurred on chromosomes 1q, 5p, 6p, 7p, 8q, and 13q, while deletions mainly occurred on 2q, 8p, 9q, 9p, and 11p. Those regions contained bladder cancer tumor-related genes, such as STK3, COX6C, SPAG1, CDKAL1, C9orf53, CDKN2A, CDKN2B, MIR31, and IFNA1. The number of CNAs detected in urine sediment DNA during the follow-up period was significantly reduced. Conclusion Our sequencing method is highly sensitive and can detect a minimal chromosome repeat/microdeletion change of 0.15 Mb. The use of 0.1~0.3× low-coverage whole-genome sequencing can be used to detect bladder cancer CNAs in urine sediment DNA. This method provides a promising method for noninvasive diagnosis of bladder cancer, but still needs further verification in a larger sample size.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Low-Coverage Sequencing of Urine Sediment DNA for Detection of Copy Number Aberrations in Bladder Cancer

Cai

Yang

Lin

et al. 2021

CMAR

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“…With fluorescence in situ hybridization (FISH) techniques, chromosomal anomalies can be detected in exfoliated bladder cells. Several studies reported low sensitivity of FISH to detect low-grade (36%-57%) and low-stage (62%-65%) tumors, while has high sensitivity for both high-grade and high-stage tumors (83%-97%) [4,5]. The detection of CIS is close to 100% and its hight specificity (89%-96%) is comparable to cytology [6].…”

Section: Molecular Markers In Bcamentioning

confidence: 99%

A Mini Review on Epigenetics MiRNAs and their Influence on Bladder Cancer Development

Poli¹

2021

BJSTR

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Bladder cancer is the 10 th most common cancer worldwide, with significant morbidity and mortality. Its early diagnosis is crucial and there is an urgent need for the development of non-invasive and specific biomarkers to detect bladder cancers at an early stage. Epigenetic alterations are innovative cancer biomarkers that show great potential for assay development to assist in patient management because of their stability and accessibility in body fluids. Recent studies demonstrated that microRNAs (miRNAs) are molecules involved in the epigenetic events emerging as diagnostic biomarkers and either their downregulation or upregulation occurs through epigenetic changes. Urological neoplasms (prostate, bladder, kidney), lung, breast and colorectal cancers are the most common and despite major advances in their characterization, this has not yet translated into biomarkers suitable for clinical practice. However, large multicenter validation studies are required to foster translation to the clinics. Herein we review the most promising epigenetic, diagnostic and predictive biomarkers in different types of biological sample related to patients harbouring bladder cancer.

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From bench to bedside: Biosensing strategies to evaluate endocrine disrupting compounds based on epigenetic events and their potential use in medicine

Araiza‐Olivera¹,

Gutiérrez‐Aguilar

Espinosa-García

et al. 2020

Environmental Toxicology and Pharmacology

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Detection of Bladder Cancer in Urine Sediments by a Novel Multicolor Fluorescence In Situ Hybridization (Quartet) Test

Abstract: The quartet test can be used for noninvasive detection of bladder cancer in voided urine. It can also be used to assess the grade of the tumor and tumor recurrence as well as post-treatment effects.

Cited by 5 publications

References 36 publications

Low-Coverage Sequencing of Urine Sediment DNA for Detection of Copy Number Aberrations in Bladder Cancer

Low-Coverage Sequencing of Urine Sediment DNA for Detection of Copy Number Aberrations in Bladder Cancer

A Mini Review on Epigenetics MiRNAs and their Influence on Bladder Cancer Development

From bench to bedside: Biosensing strategies to evaluate endocrine disrupting compounds based on epigenetic events and their potential use in medicine

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