State-of-the-Art Colorectal Cancer and Advanced Precancerous Lesion Screening: a Multitarget Stool DNA Test

Clin Lab. 2025 Jan 1;71(1). doi: 10.7754/Clin.Lab.2024.240620.

Abstract

Background: Colorectal cancer (CRC) claims 900,000 lives per year. Colonoscopy offers reliable detection, but with low patient adherence rates. To significantly reduce CRC incidence and mortality, a more convenient screening measure for advanced precancerous lesions (APL) and CRC is urgently needed.

Methods: In this study, the clinical performance of a multitarget stool DNA (mt-sDNA) test combining fecal im-munochemical test (FIT) with the analysis of genetic biomarkers by real-time PCR was evaluated in a cohort of 208 subjects.

Results: The mt-sDNA test showed a sensitivity of 84.2% for CRC (all stages) and 39.6% sensitivity for APL detection with a specificity of 91.5%. Within the APL group, high-grade dysplasia, characterized by the highest risk of further cancer progression, were detected with 75% sensitivity.

Conclusions: The mt-sDNA test represents a significant advancement for non-invasive detection of APL and CRC and bears great potential to enhance CRC prevention, incidence, and mortality.

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor / genetics
  • Colonoscopy
  • Colorectal Neoplasms* / diagnosis
  • Colorectal Neoplasms* / genetics
  • Colorectal Neoplasms* / prevention & control
  • DNA, Neoplasm / analysis
  • Early Detection of Cancer* / methods
  • Feces* / chemistry
  • Female
  • Humans
  • Male
  • Middle Aged
  • Occult Blood
  • Precancerous Conditions* / diagnosis
  • Precancerous Conditions* / genetics
  • Real-Time Polymerase Chain Reaction
  • Sensitivity and Specificity

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm