Advances in Detecting Low Prevalence Somatic TERT Promoter Mutations in Papillary Thyroid Carcinoma DOI Creative Commons
Vitor Rodrigues da Costa, Larissa Valdemarin Bim,

Luiza Dornelles Penteado Pacheco e Silva

et al.

Frontiers in Endocrinology, Journal Year: 2021, Volume and Issue: 12

Published: March 12, 2021

Background Two recurrent TERT (telomerase reverse transcriptase) promoter mutations, C228T and C250T, have been reported in thyroid carcinomas were correlated with high-risk clinicopathological features a worse prognosis. Although far more frequent the poorly differentiated undifferentiated cancer, mutations play significant role on PTC recurrence disease-specific mortality. However, prevalence varies considerably through studies it is uncertain if these differences are due to population variation or methodology used detect mutations. In this study we aim compare three different strategies PTC. Methods DNA was isolated from formalin-fixed paraffin-embedded (FFPE) specimens 89 40 paired lymph node metastases. The of hot spot C250T assessed FFPE samples using TaqMan SNP genotyping assays. Random tested by Sanger Sequencing droplet digital PCR (ddPCR). Results general, 16 out (18%) 14 (35%) metastases harbored assay. sequencing, performed random selected samples, failed four that positive Remarkably, ddPCR assay allowed detection six harbor very low mutant allele frequency (≤ 2%) negative both genotype Sequencing. Conclusion This observed good concordance among methodologies when high percentage mutated alleles present. analysis demonstrated limit for alleles. Therefore, may be higher than previously reported, since most conventionally sequencing. efficient characterization genetic alterations as preoperative postoperative diagnostic, risk stratification patient individualized treatment decisions, mainly highly heterogeneous tumors, require sensitive specific approaches.

Language: Английский

Liquid Biopsy Biomarkers in Urine: A Route towards Molecular Diagnosis and Personalized Medicine of Bladder Cancer DOI Open Access
Matteo Ferro, Evelina La Civita, Antonietta Liotti

et al.

Journal of Personalized Medicine, Journal Year: 2021, Volume and Issue: 11(3), P. 237 - 237

Published: March 23, 2021

Bladder cancer (BC) is characterized by high incidence and recurrence rates together with genomic instability elevated mutation degree. Currently, cystoscopy combined cytology routinely used for diagnosis, prognosis disease surveillance. Such an approach often associated several side effects, discomfort the patient economic burden. Thus, there essential demand of non-invasive, sensitive, fast inexpensive biomarkers clinical management BC patients. In this context, liquid biopsy represents a very promising tool that has been widely investigated over last decade. Liquid will likely be at basis selection precision medicine, both in terms treatment choice real-time monitoring therapeutic effects. Several different urinary have proposed BC, including DNA methylation mutations, protein-based assays, non-coding RNAs mRNA signatures. review, we summarized state art on available tests concerning their potential applications detection, prognosis, surveillance response to therapy.

Language: Английский

Citations

80

Current and Emerging Applications of Droplet Digital PCR in Oncology: An Updated Review DOI
Susana Olmedillas‐López, Rocío Olivera-Salazar, Mariano García‐Arranz

et al.

Molecular Diagnosis & Therapy, Journal Year: 2021, Volume and Issue: 26(1), P. 61 - 87

Published: Nov. 13, 2021

Language: Английский

Citations

74

Liquid biopsy in bladder cancer: State of the art and future perspectives DOI

Felice Crocetto,

Biagio Barone, Matteo Ferro

et al.

Critical Reviews in Oncology/Hematology, Journal Year: 2022, Volume and Issue: 170, P. 103577 - 103577

Published: Jan. 5, 2022

Language: Английский

Citations

70

Emerging digital PCR technology in precision medicine DOI
Lexiang Zhang,

Rokshana Parvin,

Qihui Fan

et al.

Biosensors and Bioelectronics, Journal Year: 2022, Volume and Issue: 211, P. 114344 - 114344

Published: May 14, 2022

Language: Английский

Citations

67

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

Nanomaterials-based biosensing strategies for biomarkers diagnosis, a review DOI Creative Commons
Esmaeil Heydari‐Bafrooei, Ali A. Ensafi

Biosensors and Bioelectronics X, Journal Year: 2022, Volume and Issue: 13, P. 100245 - 100245

Published: Nov. 7, 2022

The accurate detection of potential biomarkers in body fluids is a vital step the early specific diseases, monitoring effective treatment, and development modern drugs. In recent years, superiority biosensors has been highlighted because their inherent advantages such as cost-effectiveness, much friendlier preparation determination steps, portability, fast response time. With introduction nanomaterials into biosensing fields, analytical characteristics have improved dramatically. primary reasons for using are signal amplification sensitivity enhancement. Other biosensor features, selectivity, resolution, time, linearity, repeatability, robustness, biocompatibility, stability can also be by functionalized nanomaterials. Increasing surface area, efficient immobilization biomolecules, catalysis electrochemical optical events lowing activation energy, accelerating electron transfer, separation biomolecule's conjugates pre-concentration analyte, labeling bioreceptors considered most significant biosensors. This review provides comprehensive overview results importance New strategies enhancing features systems analyzed detail. Ultimately, current challenges prospects were discussed well.

Language: Английский

Citations

35

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

Detection of TERT Promoter Mutations as a Prognostic Biomarker in Gliomas: Methodology, Prospects, and Advances DOI Creative Commons
Tsimur N. Hasanau, Eduard Pisarev, О. V. Kisil

et al.

Biomedicines, Journal Year: 2022, Volume and Issue: 10(3), P. 728 - 728

Published: March 21, 2022

This article reviews the existing approaches to determining

Language: Английский

Citations

30

Urinary markers for bladder cancer diagnosis: A review of current status and future challenges DOI Open Access
Eisuke Tomiyama, Kazutoshi Fujita, Mamoru Hashimoto

et al.

International Journal of Urology, Journal Year: 2023, Volume and Issue: 31(3), P. 208 - 219

Published: Nov. 15, 2023

Abstract Bladder cancer is a common urological with high recurrence rate that requires long‐term follow‐up, and early detection positively affects prognosis. To date, the initial diagnosis follow‐up for bladder rely on cystoscopy, which an invasive expensive procedure. Therefore, urinary markers of have attracted research attention decades to reduce unnecessary cystoscopies. Urine, in continuous contact cancer, considered suitable fluid providing tumor information. Urinary cytology only widely used marker clinical practice; however, it has poor sensitivity low‐grade tumors; indicating need novel markers. Considerable been conducted this topic over years, resulting complex landscape wide range markers, including protein‐, exfoliated cell‐, RNA‐, DNA‐, extracellular vesicle‐based Although some these approved by U.S. Food Drug Administration are commercially available, their use practice limited. facilitate application, potential must withstand prospective trials be easy patients clinicians understand utilize context. This review provides comprehensive overview currently available recently reported promising cancer. Additionally, challenges prospects implementation treatment were discussed.

Language: Английский

Citations

20

From Detection to Cure – Emerging Roles for Urinary Tumor DNA (utDNA) in Bladder Cancer DOI
Joshua Linscott, Hiroko Miyagi, Prithvi Murthy

et al.

Current Oncology Reports, Journal Year: 2024, Volume and Issue: unknown

Published: June 5, 2024

Language: Английский

Citations

6