Clinical Significance of Hotspot Mutation Analysis of Urinary Cell-Free DNA in Urothelial Bladder Cancer

Frontiers in Oncology
Yujiro HayashiNorio Nonomura

Abstract

Recent studies showed the clinical utility of next-generation sequencing of urinary cell-free DNA (cfDNA) from patients with urothelial bladder cancer (UBC). In this study, we aimed to develop urinary cfDNA analysis by droplet digital PCR (ddPCR) as a high-throughput and rapid assay for UBC detection and prognosis. We analyzed urinary cfDNA of 202 samples from 2 cohorts. Test cohort was designed for investigating clinical utility of urinary cfDNA, and was composed of 74 samples from patients with UBC, and 52 samples of benign hematuria patients. Validation cohort was designed for validation and assessment of clinical utility comparing urinary cfDNA with UroVysion (Abbott, Illinois, USA), and was composed of 40 samples from patients with UBC, and 36 prospectively collected samples from patients under surveillance after surgery for urothelial carcinoma. We performed ddPCR analysis of hotspot gene mutations (TERT promoter and FGFR3). In the test cohort, the sensitivity of urinary cfDNA diagnosis was 68.9% (51/74) and the specificity was 100% in patients with UBC. The sensitivity increased to 85.9% when used in conjunction with urine cytology. In addition, patients with high TERT C228T allele frequency (≥14%) had significantly wors...Continue Reading

References

Jan 11, 2000·Nucleic Acids Research·S T SherryK Sirotkin
Jun 1, 2005·European Urology·Bas W G van RhijnTheo H van der Kwast
Jul 28, 2013·Nature Communications·João VinagrePaula Soares
Jun 19, 2016·The Journal of Urology·Sam S ChangJames M McKiernan
Aug 16, 2016·Virchows Archiv : an International Journal of Pathology·Doreen NguyenGeorge J Netto
Jun 10, 2017·Virchows Archiv : an International Journal of Pathology·Maria Del Carmen Rodriguez PenaGeorge J Netto
Oct 7, 2017·Journal of the National Comprehensive Cancer Network : JNCCN·Philippe E SpiessLisa A Gurski
Dec 24, 2018·Cancer Discovery·Jonathan C DudleyMaximilian Diehn
Apr 28, 2019·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Marie-Lisa EichGeorge J Netto
Aug 2, 2019·International Journal of Urology : Official Journal of the Japanese Urological Association·Takahiro YoshidaDavid J McConkey
Dec 6, 2019·Frontiers in Oncology·Uttam SatyalPhilip H Abbosh
Feb 12, 2020·Translational Andrology and Urology·Yujiro Hayashi, Kazutoshi Fujita

❮ Previous
Next ❯

Citations

Aug 26, 2020·International Journal of Molecular Sciences·Maria ZverevaFlorence Le Calvez-Kelm
Aug 28, 2020·International Journal of Molecular Sciences·Takuji HayashiNorio Nonomura
Nov 20, 2020·International Journal of Molecular Sciences·Zuzana PösTomas Szemes
Apr 4, 2021·Journal of Personalized Medicine·Matteo FerroDaniela Terracciano
Aug 17, 2021·Frontiers in Oncology·Yujiro HayashiNorio Nonomura
Nov 14, 2021·Molecular Diagnosis & Therapy·Susana Olmedillas-LópezDamián García-Olmo

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR
biopsy

Software Mentioned

JMP Pro
UroVysion

Related Concepts

Related Feeds

Cancer Sequencing

Several sequencing approaches are employed to understand and examine tumor development and progression. These include whole genome as well as RNA sequencing. Here is the latest research on cancer sequencing.