Journal: Nature communications
This study evaluates a minimally invasive diagnostic approach for colorectal neoplasia using rectal mucus rather than blood or tissue.
Key points:
- Rationale: Colorectal cancer arises in the mucosa, but most noninvasive diagnostics focus on blood-based or stool-based markers. The authors hypothesize that rectal mucus, easily collected in clinic without bowel prep, may better reflect both host and microbial changes associated with adenomas and cancer.
- Method: Rectal mucus samples were collected using a simple outpatient device. A “hologenomic” strategy was applied, integrating:
- Host genomics and epigenomics (genetic and epigenetic aberrations in the patient’s own cells)
- Microbial genomics (composition and perturbations of the local microbiome)
- Findings:
- Rectal mucus contained detectable host genetic and epigenetic alterations associated with adenomatous polyps and colorectal cancer.
- Microbial community changes in the mucus also correlated with neoplastic disease.
- Combining host and microbial data (hologenomic integration) improved detection of adenomas and cancers compared with using either host-only or microbiome-only data.
- The integrated model better stratified colorectal cancer by location and stage than single-omics approaches.
- Clinical implication: Rectal mucus sampling with combined host–microbiome analysis shows promise as a minimally invasive, preparation-free outpatient test for detecting adenomas and colorectal cancer, with potential to complement or, in some settings, partially substitute for more invasive procedures if validated in further prospective studies.