Microbiome insights into pediatric familial adenomatous polyposis

Abstract 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 comp...

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Main Authors: Thomas M. Attard, Seth Septer, Caitlin E. Lawson, Mark I. Attard, Sonny T. M. Lee, Shahid Umar
Format: Article
Language:English
Published: BMC 2022-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-022-02569-2
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author Thomas M. Attard
Seth Septer
Caitlin E. Lawson
Mark I. Attard
Sonny T. M. Lee
Shahid Umar
author_facet Thomas M. Attard
Seth Septer
Caitlin E. Lawson
Mark I. Attard
Sonny T. M. Lee
Shahid Umar
author_sort Thomas M. Attard
collection DOAJ
description Abstract 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.
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spelling doaj.art-05f3b5ccd64a48bf927fb5a250e1897a2022-12-22T04:39:05ZengBMCOrphanet Journal of Rare Diseases1750-11722022-11-0117111710.1186/s13023-022-02569-2Microbiome insights into pediatric familial adenomatous polyposisThomas M. Attard0Seth Septer1Caitlin E. Lawson2Mark I. Attard3Sonny T. M. Lee4Shahid Umar5Department of Gastroenterology, Children’s Mercy Hospital, 1MO2.37Department of Pediatric Gastroenterology, Children’s Hospital ColoradoDivision of Genetics, Children’s Mercy HospitalNeonatal Unit, Aberdeen Maternity HospitalDivision of Biology, Kansas State UniversityDepartment of Surgery, University of Kansas Medical CenterAbstract 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.https://doi.org/10.1186/s13023-022-02569-2Familial adenomatous polyposisColorectal cancerMicrobiome
spellingShingle Thomas M. Attard
Seth Septer
Caitlin E. Lawson
Mark I. Attard
Sonny T. M. Lee
Shahid Umar
Microbiome insights into pediatric familial adenomatous polyposis
Orphanet Journal of Rare Diseases
Familial adenomatous polyposis
Colorectal cancer
Microbiome
title Microbiome insights into pediatric familial adenomatous polyposis
title_full Microbiome insights into pediatric familial adenomatous polyposis
title_fullStr Microbiome insights into pediatric familial adenomatous polyposis
title_full_unstemmed Microbiome insights into pediatric familial adenomatous polyposis
title_short Microbiome insights into pediatric familial adenomatous polyposis
title_sort microbiome insights into pediatric familial adenomatous polyposis
topic Familial adenomatous polyposis
Colorectal cancer
Microbiome
url https://doi.org/10.1186/s13023-022-02569-2
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