Technology in Cancer Research & Treatment (May 2024)

Combined DNA Analysis from Stool and Blood Samples Improves Tumor Tracking and Assessment of Clonal Heterogeneity in Localized Rectal Cancer Patients

  • Thomas Parigger PhD,
  • Franz Josef Gassner PhD,
  • Stephan Drothler MSc,
  • Christian Scherhäufl MSc,
  • Alexandra Hödlmoser MSc,
  • Lena Schultheis MSc,
  • Aryunni Abu Bakar MSc,
  • Florian Huemer MD,
  • Richard Greil MD,
  • Roland Geisberger PhD,
  • Lukas Weiss MD, PhD,
  • Nadja Zaborsky PhD

DOI
https://doi.org/10.1177/15330338241252706
Journal volume & issue
Vol. 23

Abstract

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Objectives: In this study, stool samples were evaluated for tumor mutation analysis via a targeted next generation sequencing (NGS) approach in a small patient cohort suffering from localized rectal cancer. Introduction: Colorectal cancer (CRC) causes the second highest cancer-related death rate worldwide. Thus, improvements in disease assessment and monitoring that may facilitate treatment allocation and allow organ-sparing “watch-and-wait” treatment strategies are highly relevant for a significant number of CRC patients. Methods: Stool-based results were compared with mutation profiles derived from liquid biopsies and the gold standard procedure of tumor biopsy from the same patients. A workflow was established that enables the detection of de-novo tumor mutations in stool samples of CRC patients via ultra-sensitive cell-free tumor DNA target enrichment. Results: Notably, only a 19% overall concordance was found in mutational profiles across the compared sample specimens of stool, tumor, and liquid biopsies. Conclusion: Based on these results, the analysis of stool and liquid biopsy samples can provide important additional information on tumor heterogeneity and potentially on the assessment of minimal residual disease and clonal tumor evolution.