Serial ctDNA analysis predicts clinical progression in patients with advanced urothelial carcinoma

Br J Cancer. 2022 Feb;126(3):430-439. doi: 10.1038/s41416-021-01648-8. Epub 2022 Jan 19.

Abstract

Background: Targeted sequencing of circulating tumour DNA (ctDNA) is a promising tool to monitor dynamic changes in the variant allele frequencies (VAF) of genomic alterations and predict clinical outcomes in patients with advanced urothelial carcinoma (UC).

Methods: We performed targeted sequencing of 182 serial ctDNA samples from 53 patients with advanced UC.

Results: Serial ctDNA-derived metrics predicted the clinical outcomes in patients with advanced UC. Combining serial ctDNA aggregate VAF (aVAF) values with clinical factors, including age, sex, and liver metastasis, improved the performance of prognostic models. An increase of the ctDNA aVAF by ≥1 in serial ctDNA samples predicted disease progression within 6 months in 90% of patients. The majority of patients with aVAFs ≤0.7 in three consecutive ctDNA samples achieved durable clinical responses (≥6 months).

Conclusions: Serial ctDNA analysis predicts disease progression and enables dynamic monitoring to guide precision medicine in patients with advanced UC.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics*
  • Carcinoma, Transitional Cell / blood
  • Carcinoma, Transitional Cell / genetics
  • Carcinoma, Transitional Cell / pathology*
  • Circulating Tumor DNA / blood
  • Circulating Tumor DNA / genetics*
  • Disease Progression
  • Female
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Mutation*
  • Precision Medicine / methods*
  • Prognosis
  • Survival Rate
  • Urinary Bladder Neoplasms / blood
  • Urinary Bladder Neoplasms / genetics
  • Urinary Bladder Neoplasms / pathology*

Substances

  • Biomarkers, Tumor
  • Circulating Tumor DNA