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Related Experiment Video

Updated: Jun 19, 2026

Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer
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Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer

Published on: September 8, 2023

High Sensitivity ctDNA Analysis Using a Novel Panel and NOIR-SS Technology for Monitoring Advanced Urothelial

Tetsuya Danno1, Seiji Nakamura2, Satoru Taguchi1

  • 1Department of Urology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Cancer Medicine
|June 17, 2026
PubMed
Summary

Monitoring advanced urothelial carcinoma (aUC) treatment response is challenging. Circulating tumor DNA (ctDNA) analysis shows promise for non-invasive monitoring of aUC, reflecting treatment effectiveness.

Keywords:
NOIR‐SScfDNActDNAliquid biopsyurothelial carcinoma

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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Advanced urothelial carcinoma (aUC) presents a significant clinical challenge due to poor prognosis and difficulties in real-time treatment response monitoring.
  • Circulating tumor DNA (ctDNA) is an emerging non-invasive biomarker with potential to reflect tumor burden and molecular response in cancer.
  • Current methods for assessing treatment efficacy in aUC often lack the sensitivity and real-time feedback needed for optimal patient management.

Purpose of the Study:

  • To evaluate the feasibility and sensitivity of analyzing ctDNA dynamics for monitoring treatment response in patients with advanced urothelial carcinoma (aUC).
  • To assess the utility of a urothelial carcinoma-specific mutation panel combined with a high-fidelity sequencing platform (NOIR-SS) for ctDNA detection and tracking.
  • To correlate ctDNA kinetics with clinical outcomes and tumor burden in aUC patients undergoing dose-dense methotrexate, vinblastine, doxorubicin, and cisplatin (ddMVAC) chemotherapy.

Main Methods:

  • Collected tumor tissue and serial plasma samples from 15 patients with aUC treated with ddMVAC.
  • Utilized a custom panel targeting hotspot mutations in TP53, FGFR3, KRAS/HRAS, and TERT promoter.
  • Employed a tumor-informed approach with the non-overlapping integrated read sequencing system (NOIR-SS) to track ctDNA in plasma.

Main Results:

  • ctDNA was detectable in 10 of 15 patients before treatment and showed a trend correlating with tumor volume, particularly with liver metastases.
  • Longitudinal ctDNA variant allele frequency changes generally mirrored treatment response, with observed discrepancies potentially indicating subclonal resistance.
  • The NOIR-SS platform demonstrated high sensitivity for ctDNA detection, though ctDNA detection was limited in cases with pulmonary metastases.

Conclusions:

  • ctDNA profiling using a targeted panel and NOIR-SS is a feasible approach for sensitive, non-invasive molecular monitoring in advanced urothelial carcinoma (aUC).
  • This method shows potential for future clinical application in guiding aUC treatment, pending prospective validation in larger patient cohorts.
  • Further research is needed to address limitations such as sequencing costs, potential temporal discordance, and clonal hematopoiesis of indeterminate potential (CHIP).