Diagnostic Performances of Urine Cytology and TERT Promoter Mutations in Bladder Cancer DOI Open Access
Samah Mamdouh, Gehan Hammad, Tarek Aboushousha

et al.

Journal of Population Therapeutics and Clinical Pharmacology, Journal Year: 2023, Volume and Issue: 30(4)

Published: Jan. 1, 2023

Background: Detecting bladder cancer (BC) using urinary biomarkers may provide a valuable opportunity for screening and management.The best hope reducing mortality morbidity remains early detection.Two hotspot mutations in the promoter region of C228T C250T, are frequently found several tumor types, considered as an event BC tumorigenesis.This study aims to assess validity diagnostic potential these detect urine tDNA-based liquid biopsy patients evaluate expression NMP-22 MMP-9 controls, analyze efficacy them examine their relation TERT mutant wild patients.Methods & Results: 210 95 healthy volunteers served controls were screened by PCR from samples, addition Enzyme-Linked Immunosorbent Assay (ELISA) detection levels, significant increase level was detected indicating capability BC, higher variants.141 (67.1%) identified harbor mutations, while C250T 64 (30.4%).Univariate logistic regression analysis revealed that 2 statistically associated with association high grades, recurrence invasiveness.Conclusion: Detection could present reliable noninvasive marker patient survival time, disease invasiveness unique predictor individualized prognostic potential.

Language: Английский

A Liquid Biopsy in Bladder Cancer—The Current Landscape in Urinary Biomarkers DOI Open Access
Milena Matuszczak,

Adam Kiljańczyk,

Maciej Salagierski

et al.

International Journal of Molecular Sciences, Journal Year: 2022, Volume and Issue: 23(15), P. 8597 - 8597

Published: Aug. 2, 2022

The non-muscle invasive bladder cancer tends to recur and progress. Therefore, it requires frequent follow-ups, generating costs making one of the most expensive neoplasms. Considering character current gold-standard diagnostic procedure, white-light cystoscopy, efforts find an alternative method are ongoing. Although last decade has seen significant advancements in urinary biomarker tests (UBTs) for cancer, international guidelines have not recommended them. Currently, paramount urgency is validate test with best specificity sensitivity, which would allow optimizing diagnosis, prognosis, a treatment plan. This review aims summarise up-to-date state knowledge relating UBTs new developments detection, surveillance their potential applications clinical practice.

Language: Английский

Citations

42
Circulating and urinary tumour DNA in urothelial carcinoma — upper tract, lower tract and metastatic disease DOI
Kyle Rose, Heather L. Huelster, Joshua J. Meeks

et al.

Nature Reviews Urology, Journal Year: 2023, Volume and Issue: 20(7), P. 406 - 419

Published: March 28, 2023

Language: Английский

Citations

33
Biological and clinical perspectives of TERT promoter mutation detection on bladder cancer diagnosis and management DOI
Liang Cheng, Shaobo Zhang, Ming‐Sheng Wang

et al.

Human Pathology, Journal Year: 2022, Volume and Issue: 133, P. 56 - 75

Published: June 11, 2022

Language: Английский

Citations

33
Advancements in Urothelial Cancer Care: Optimizing Treatment for Your Patient DOI

Gregory Hemenway,

Jonathan F. Anker, Paul Riviere

et al.

American Society of Clinical Oncology Educational Book, Journal Year: 2024, Volume and Issue: 44(3)

Published: May 21, 2024

The standard treatment paradigm for muscle invasive bladder cancer has been neoadjuvant cisplatin-based chemotherapy followed by radical cystectomy. However, efforts are ongoing to personalize incorporating biomarkers better guide selection. In addition, preservation strategies aimed at avoiding cystectomy in well-selected patients. Similarly, the metastatic urothelial space, frontline option of platinum-based changed with availability data from EV-302 trial, making combination enfortumab vedotin (EV) and pembrolizumab preferred first-line option. Here, we examine optimization intensity sequencing, focusing on challenges opportunities associated EV/pembrolizumab therapy, including managing toxicities exploring alternative dosing approaches. Together, these articles provide a comprehensive overview contemporary management, highlighting importance individualized approaches, research, multidisciplinary collaboration improve patient outcomes this complex disease landscape.

Language: Английский

Citations

6
Molecular Oncology of Bladder Cancer from Inception to Modern Perspective DOI Open Access
Soum D. Lokeshwar, Maite López-Sánchez, Semih Sarcan

et al.

Cancers, Journal Year: 2022, Volume and Issue: 14(11), P. 2578 - 2578

Published: May 24, 2022

Within the last forty years, seminal contributions have been made in areas of bladder cancer (BC) biology, driver genes, molecular profiling, biomarkers, and therapeutic targets for improving personalized patient care. This overview includes discoveries advances oncology BC. Starting with concept divergent pathways development low- high-grade tumors, field cancerization versus clonality genes/mutations, genetic polymorphisms, bacillus Calmette-Guérin (BCG) as an early form immunotherapy are some conceptual towards Although beginning a promise predicting prognosis individualizing treatments, "-omic" approaches subtypes revealed importance BC stem cells, lineage plasticity, intra-tumor heterogeneity next frontiers realizing individualized Along urine optimal non-invasive liquid biopsy, is at forefront biomarker field. If goal to reduce number cystoscopies but not replace them monitoring recurrence asymptomatic microscopic hematuria, marker may reach clinical acceptance. As continue, twenty-five years should significantly advance care patients.

Language: Английский

Citations

21
Circulating Tumor DNA in Genitourinary Cancers: Detection, Prognostics, and Therapeutic Implications DOI Open Access
Margo B. Gerke,

Caroline S. Jansen,

Mehmet Asim Bilen

et al.

Cancers, Journal Year: 2024, Volume and Issue: 16(12), P. 2280 - 2280

Published: June 20, 2024

CtDNA is emerging as a non-invasive clinical detection method for several cancers, including genitourinary (GU) cancers such prostate cancer, bladder and renal cell carcinoma (RCC). assays have shown promise in early of GU providing prognostic information, assessing real-time treatment response, detecting residual disease relapse. The ease obtaining “liquid biopsy” from blood or urine enhances its potential to be used biomarker. Interrogating these biopsies” ctDNA can then detect common cancer mutations, novel genomic alterations, epigenetic modifications. has undergone investigation numerous trials, which could address needs instance, earlier RCC, therapeutic response prediction castration-resistant monitoring recurrence cancers. utilization liquid biopsy analysis provides promising advancing precision medicine within the field

Language: Английский

Citations

4
Circulating tumor DNA: a revolutionary approach for early detection and personalized treatment of bladder cancer DOI Creative Commons
Yan Zhou,

Rongzhong Wang,

Mingtang Zeng

et al.

Frontiers in Pharmacology, Journal Year: 2025, Volume and Issue: 16

Published: March 21, 2025

Bladder cancer is a malignant tumor with high global incidence and recurrence rate. Traditional diagnostic methods, such as cystoscopy urine cytology, have limitations in sensitivity specificity, particularly detecting low-grade bladder cancer. Circulating DNA (ctDNA) offers non-invasive alternative, reflecting genetic characteristics through blood samples. It demonstrates repeatability, making it promising tool for early detection, monitoring, treatment evaluation. Clinical studies shown that ctDNA not only detects burden but also captures dynamic mutations, aiding personalized strategies. Despite its potential, clinical implementation of faces challenges, including optimization detection techniques, standardization, the cost testing. This paper explores role advancing diagnosis treatment, focus on refining application guiding future research toward improved patient outcomes.

Language: Английский

Citations

0
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
Detection of the ADGRG6 hotspot mutations in urine for bladder cancer early screening by ARMS‐qPCR DOI Creative Commons
Dan Tan, Wenqi Jiang,

Rixin Hu

et al.

Cancer Medicine, Journal Year: 2023, Volume and Issue: 12(10), P. 11503 - 11512

Published: April 20, 2023

Abstract Background In bladder cancer, recurrent ADGRG6 enhancer hotspot mutations (chr. 6: 142,706,206 G>A, chr. 6:142,706,209 C>T) were reported at a high mutation rate of approximately 50%. Thus, status might be candidate for diagnostic biomarker. Methods To improve test efficacy, an amplification refractory system combined with quantitative real‐time PCR (ARMS‐qPCR) assay was developed to detect the in patient as clinical test. validate performance ARMS‐qPCR assay, artificial plasmids, cell DNA reference standard used templates, respectively. ability, we detected free (cfDNA) and sediment (sDNA) 30 cancer patients' urine by comparing Sanger sequencing, followed droplet digital confirm results. We also tested 100 healthy individuals 90 patients whose diagnoses urinary tract infections or stones but not cancer. Results Sensitivity 100% specificity 96.7% achieved when plasmid 1%, sensitivity frequency 0.5%. sequencing both cases 93.3% agreement. For remaining unmatched sites, results consistent PCR. Among individuals, three them carried way ARMS‐qPCR. Of stones, no found Based on detection, assay's is 83.3%, 98.4%. Conclusion here present novel accuracy sensitivity, which may potentially serve rapid non‐invasive tool early screening follow‐up relapse monitoring.

Language: Английский

Citations

3
Tumor cell-free DNA detection-based liquid biopsy of plasma and bile in pancreatic ductal adenocarcinoma: a pilot study DOI Creative Commons
Mark Jain, David P. Atayan, Tagir I. Rakhmatullin

et al.

Genes and Cells, Journal Year: 2023, Volume and Issue: 18(1), P. 41 - 51

Published: April 7, 2023

INTRODUCTION: Plasma liquid biopsy with tumor cell-free DNA detection is one of the most promising technologies in pancreatic ductal adenocarcinoma diagnosis. Due to low levels this biomarker plasma its detectability turns out be lower than expected. However, some patients disease present biliary obstruction, which enables collection bile for analysis. THE AIM: To comparison diagnostic potential detection-based and patients. MATERIAL AND METHODS: The pilot study included 15 primary untreated obstruction. Cell-free was isolated from 5 mL bile. Tumor performed using digital droplet PCR KRAS gene mutations analysis: G12A, G12C, G12D, G12R, G12S, G12V, G13D и Q61H (183AC), (183AT), Q61K, Q61L, Q61R. False-positive droplets threshold established during analysis samples healthy volunteers. RESULTS: detected 13 samples, whereas among paired only 9 were positive. All positive had a sample. statistically significantly higher plasma: 538.0 (4.11960.0) vs. 4.4 (027.6) copies/mL (p=0.005). CONCLUSION: Bile obstruction alternative analysis, due concentrations DNA.

Language: Английский

Citations

1