DOI: 10.1186/s13023-022-02569-2; PMCID: PMC9664625
BACKGROUND: Individuals with familial adenomatous polyposis (FAP) harbor numerous polyps with inevitable early progression to colon cancer. Complex microbiotic-tumor microenvironment perturbations suggest a dysbiotic relationship between polyp and microbiome. In this study, we performed comprehensive analyses of stool and tissue microbiome of pediatric FAP subjects and compared with unaffected cohabiting relatives through 16S V4 region amplicon sequencing and machine learning platforms.
RESULTS: Within our FAP and control patient population, Firmicutes and Bacteroidetes were the predominant phyla in the tissue and stool samples, while Proteobacteria dominated the polyp/non-polyp mucosa. A decline in Faecalibacterium in polyps contrasted with a decline in Bacteroides in the FAP stool. The alpha- and beta-diversity indices differed significantly within the polyp/non-polyp groups, with a concurrent shift towards lower diversity in polyps. In a limited 3-year longitudinal study, the relative abundance of Proteobacteria and Fusobacteria was higher in polyps compared to non-polyp and stool specimens over time. Through machine learning, we discovered that Archaeon_enrichment_culture_clone_A13, Micrococcus_luteus, and Eubacterium_hallii in stool and PL-11B10, S1-80, and Blastocatellaceae in tissues were significantly different between patients with and without polyps.
CONCLUSIONS: Detection of certain bacterial concentrations within stool or biopsied polyps could serve as adjuncts to current screening modalities to help identify higher-risk patients.
Orphanet J Rare Dis
Humans; Child; Longitudinal Studies; Adenomatous Polyposis Coli; Biopsy; Microbiota; Tumor Microenvironment
Colorectal cancer; Familial adenomatous polyposis; Microbiome
Attard TM, Septer S, Lawson CE, Attard MI, Lee STM, Umar S. Microbiome insights into pediatric familial adenomatous polyposis. Orphanet J Rare Dis. 2022;17(1):416. Published 2022 Nov 14. doi:10.1186/s13023-022-02569-2