The utilisation of digital droplet PCR to enhance the diagnosis of bladder and pancreaticobiliary tumours in cytology specimens DOI
Julie Weigner,

Raewyn Billings,

Rodney J. Scott

et al.

Diagnostic Cytopathology, Journal Year: 2023, Volume and Issue: 51(8), P. 511 - 518

Published: May 12, 2023

Digital droplet PCR (ddPCR) is a relatively new technique used to detect molecular alterations with unprecedented precision and accuracy. It particularly useful for detecting point mutations copy number variation (CNV) in samples small amounts of target DNA. This proof principle study was conducted see if ddPCR technology could be applied cytology specimens which may influence diagnostic decision making.A range cytological derived from bladder or pancreaticobiliary origin, varying diagnoses but an emphasis on abnormality, underwent testing. DNA manually extracted Thinprep vials, cell blocks direct fine needle aspiration smears. performed using two somatic TP53 R248W R273H assays both urine specimens. Three CNV assays; CDKN2A, E2F3 YWHAZ were samples. SMAD4 CDKN2A CNVs the samples.16 21 showed 12 those 16 cases associated malignant outcomes. The 14 37 alterations, all carcinoma. We demonstrated increasing percentage aberrations severity results.Our results have shown that can identify Being able these reduce equivocal leading more timely informed patient management decisions.

Language: Английский

Advancements in the Diagnosis, Treatment, and Risk Stratification of Non-Muscle Invasive Bladder Cancer DOI

Shayan Smani,

J.B. Dubois, Kai Sun Zhao

et al.

Current Oncology Reports, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 20, 2025

Language: Английский

Citations

1
Liquid biopsy in urothelial carcinoma: Detection techniques and clinical applications DOI Open Access
Siyu Wu, Rong Li,

Yuan‐Hong Jiang

et al.

Biomedicine & Pharmacotherapy, Journal Year: 2023, Volume and Issue: 165, P. 115027 - 115027

Published: June 22, 2023

The types of urothelial carcinoma (UC) include bladder cancer and upper tract carcinoma. Current diagnostic techniques cannot meet the needs patients. Liquid biopsy is an accurate method determining molecular profile UC a cutting-edge popular technique that expected to complement existing detection benefit patients with UC. Circulating tumor cells, cell-free DNA, RNA, extracellular vesicles, proteins, metabolites can be found in blood, urine, or other bodily fluids are examined during liquid biopsies. This article focuses on components biopsies their clinical applications have tremendous potential multiple aspects precision oncology, from early diagnosis treatment monitoring predicting prognoses. They may therefore play important role management medicine.

Language: Английский

Citations

12
Novel Urinary Biomarkers for the Detection of Bladder Cancer DOI Open Access
Matthijs Oyaert, Charles Van Praet, Charlotte Delrue

et al.

Cancers, Journal Year: 2025, Volume and Issue: 17(8), P. 1283 - 1283

Published: April 10, 2025

Bladder cancer (BCa) is a highly recurrent malignancy that requires sensitive and noninvasive diagnostic predictive markers. Conventional tools, such as cystoscopy urine cytology, are far from ideal in terms of sensitivity, specificity, patient compliance. In this narrative review, the development novel urinary markers for diagnosis BCa highlighted, with focus on their application clinical arena, detection accuracy, future potential. An extensive analysis new biomarkers, including proteinuria-based tests, DNA methylation RNA-based molecular panels, has been conducted. Various Cxbladder®, EpiCheck®, UroSEEK, clinically valid. Urinary biomarkers provide promising alternative traditional diagnostics enhanced specificity possibility early diagnosis. Future research should large-scale validation standardization to facilitate use routine practice.

Language: Английский

Citations

0
Implications of TERT promoter mutations and telomerase activity in solid tumors with a focus on genitourinary cancers DOI
Paola Valeria Marchese, Veronica Mollica, Elisa Tassinari

et al.

Expert Review of Molecular Diagnostics, Journal Year: 2022, Volume and Issue: 22(11), P. 997 - 1008

Published: Nov. 2, 2022

Introduction The reactivation of telomerase represents a key moment in the carcinogenesis process. Mutations central promoter region reverse transcriptase (TERT) gene cause approximately 90% solid tumors. In some these, its prognostic and predictive role response to treatments has already been demonstrated, others (such as tumors genitourinary tract like urothelial carcinoma) data are controversial research is still ongoing. future, TERT mutations activity could have diagnostic, prognostic, therapeutic applications many types cancer.Areas covered We performed review literature with aim describing current evidence on mutations. tumor types, associated worse prognosis potential value biomarkers guide decisions. seems make particularly immunogenic more responsive immunotherapy, although controversial.Expert opinion described particular focus cancers, considering their frequency this tract.

Language: Английский

Citations

8
Comparison of the overall survival of different treatment methods in patients with Muscle-invasive bladder cancer: A retrospective study DOI
Hamid Pakmanesh,

Azadeh Khajehsalimi,

Mohammadamin Hesamarefi

et al.

Urologia Journal, Journal Year: 2024, Volume and Issue: unknown

Published: June 12, 2024

Bladder-Sparing Approach was presented in patients who are not willing or suitable for Radical Cystectomy (RC). There have been inconsistencies the literature regarding comparison of survival rates these two methods. Our objective is to evaluate rate with muscle-invasive bladder cancer (MIBC) undergoing different treatment

Language: Английский

Citations

1
Diagnostic performance of Uromonitor and TERTpm ddPCR urine tests for the non-invasive detection of bladder cancer DOI Creative Commons
Anja Rabien,

Dezhi Rong,

Silke Rabenhorst

et al.

Scientific Reports, Journal Year: 2024, Volume and Issue: 14(1)

Published: Dec. 23, 2024

Uromonitor and urinary telomerase reverse transcriptase promoter mutation droplet digital PCR (uTERTpm ddPCR) are non-invasive tests designed to detect bladder cancer in urine. We aimed compare the diagnostic performance of uTERTpm ddPCR, urine cytology detecting cancer. Urine samples were collected prospectively from patients diagnosed with primary (n = 74) recurrent 20) or benign urological conditions 48) prior surgical resection. The tested for via cytology. sensitivity, specificity, predictive values calculated each test, including confidence intervals. results stratified by low-grade non-muscle-invasive cancer, high-grade muscle-invasive Compared (59.5%, p 0.005) (56.8%, 0.001), ddPCR test had highest sensitivity (79.7%) detection Specificity did not significantly differ. exhibited superior over Uromonitor, highlighting its potential diagnosis.

Language: Английский

Citations

1
Development of a Sensitive Digital Droplet PCR Screening Assay for the Detection of GPR126 Non-Coding Mutations in Bladder Cancer Urine Liquid Biopsies DOI Creative Commons
Mark Jain, A. S. Tivtikyan, D. M. Kamalov

et al.

Biomedicines, Journal Year: 2023, Volume and Issue: 11(2), P. 495 - 495

Published: Feb. 8, 2023

Recent whole-genome sequencing studies identified two novel recurrent mutations in the enhancer region of GPR126 urothelial bladder cancer (UBC) tumor samples. This mutational hotspot is second most common after TERT promoter UBC. The aim study was to develop a digital droplet PCR screening assay for simultaneous detection single tube. Its performance combined with mutation analysis evaluated urine healthy volunteers (n = 50) and patients cystitis 22) UBC 70). developed validated using DNA constructs carrying studied variants. None were detected control group observed 25/70 (area under ROC curve (AUC) 0.679; mutant allele fraction (MAF) 21.61 [8.30–44.52] %); mutations–in 40/70 (AUC 0.786; MAF 28.29 [19.03–38.08] ≥1 mutation–in 47/70 0.836)). presence 18/70 cases, no difference MAFs paired samples (31.96 [14.78–47.49] % vs. 27.13 [17.00–37.62] %, p 0.349, respectively). these non-coding allows sensitive non-invasive

Language: Английский

Citations

3
Research Progress of New Urine Markers in the Diagnosis of Bladder Cancer DOI Creative Commons

Rose Lamichhane

annals of urologic oncology, Journal Year: 2024, Volume and Issue: unknown

Published: Feb. 6, 2024

Bladder cancer is the tenth most commonly diagnosed worldwide and poses a great threat to human health. It has high recurrence rate requires long-term close monitoring follow-up after surgery. At present, reliable method for clinical diagnosis of bladder still cystoscopy urine exfoliative cytology. However, an invasive examination, which often accompanied by complications such as infection, bleeding, pain discomfort, cost ineffective. same time, sensitivity cytology low-grade tumors low, subjective factors examiners have impact on test results. Urinary biomarkers advantages non-invasive, safe, simple detection, possessing diagnostic value. it been found that many markers show higher than in detection cancer, but due their poor specificity, they are not widely used practice. Therefore, there urgent need find novel noninvasive with specificity sensitivity. This article reviews recent research progress some new cancer.

Language: Английский

Citations

0
Urine Liquid Biopsies via Highly Integrated Digital PCR System for Accurate Detection of Bladder Cancer DOI
Yue Zhang, Ming Xu, Zhihong Wu

et al.

Advanced Therapeutics, Journal Year: 2024, Volume and Issue: unknown

Published: June 17, 2024

Abstract Bladder cancer (BC) is a prevalent urological tumor with high recurrence rates, requiring long‐term monitoring. Although cystoscopy the primary diagnostic method, its invasiveness and cost hinder routine screening follow‐up. This study aimed to develop novel tool utilizing newly developed on‐chip heating dPCR platform, which features integrated rapid temperature control capabilities, for non‐invasive BC detection. The platform improved by integrating multi‐color detection system, enabling precise quantification of mutant allelic fraction (MAF) TERT promoter mutations limit (LOD) 0.29%. Diagnostic performance enhanced NRN1 methylation biomarker employing machine learning optimize weighting. Testing model on urine samples from controls ( n = 35) patients 41) yielded sensitivity 0.92, specificity 0.94, an AUC 0.98, surpassing conventional cytology in while maintaining comparable specificity. Furthermore, effectively differentiated between normal different stages, achieving accuracies 0.71, 0.79 NC, stage I, II+ respectively. These findings suggest proposed assays could serve as sensitive approach clinical practice.

Language: Английский

Citations

0
Evaluation of the diagnostic value of YiDiXie™-SS and YiDiXie™ -HS in uroepithelial carcinoma DOI Creative Commons

Huimei Zhou,

Shengjie Lin,

Yutong Wu

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 8, 2024

Background Uroepithelial carcinoma is a serious threat to human health and causes heavy economic burden. Enhanced CT widely used in screening or preliminary diagnosis of uroepithelial tumors. However, false-positive results on enhanced can lead misdiagnosis incorrect endoscopy, while false-negative missed delayed treatment. There an urgent need find convenient, cost-effective non-invasive diagnostic methods reduce the rates The aim this study was evaluate value YiDiXie ™ -SS, -HS -D carcinoma. Patients 319 subjects (malignant group, n=240; benign n=79) were finally included study. Remaining serum samples from collected tested by applying YiDiXie™ all-cancer detection kit sensitivity specificity YiDiXie™-SS YiDiXie™-HS. Results SS 95.8% (95% CI: 92.5% - 97.7%) its 64.6% 53.6% 74.2%). This means that -SS has extremely high relatively urothelial tumors.YiDiXie™-HS 85.8% 80.9% 89.7%) 84.8% 75.3% 91.1%). YiDiXie™-HS tumors.YiDiXie™-D 73.3% 67.4% 78.5%) 92.4% 84.4% 96.5%). very CT-positive patients 96.3% 98.3%)and 64.3% 38.8% 83.7%). application reduces rate urological 83.7%) with essentially no increase malignancy leakage. CT-negative 85.5% 75.9% 91.7%)and 84.6% 73.9% 91.4%). 91.7%).YiDiXie™-D had 75.6% 68.5% 81.5%) 92.9% 99.6%) positivity. reduced false positives 87.8% 96.0%). 68.4% 57.3% 77.8%) 92.3% 83.2% 96.7%) negativity. YiDiXie™-D maintaining specificity. Conclusion dramatically treatment malignant substantially rates.YiDiXie rates, significantly tests important cancer, expected solve problems “high positive rate” negative CT. Clinical trial number ChiCTR2200066840.

Language: Английский

Citations

0