Bannayan-Riley-Ruvalcaba syndrome: Spectrum of intestinal pathology including juvenile polyps

Amy Lowichik, Frances V. White, Charles F. Timmons, Arthur G. Weinberg, Thirumazhisai S. Gunasekaran, Kumar Nathan, Cheryl M. Coffin

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a disorder that includes juvenile polyposis as part of its pathologic spectrum, and it recently has been shown to share phenotypic and genotypic features with Cowden's disease. In existing literature, descriptions of intestinal pathology in patients with BRRS are relatively sparse and occasionally erroneous. We describe the intestinal pathology in multiple specimens from three children with BRRS. Examination of gastrointestinal biopsies from these children revealed predominantly colonic and rectal polyps with the histology of juvenile polyps. Additionally, two cases with clusters of ectopic ganglion cells within the lamina propria, one in a colonic polyp and one in a duodenal biopsy, and an atypical polyp were observed. Bannayan-Riley- Ruvalcaba syndrome should be included in the list of differential diagnostic considerations when a child or young adult presents with a juvenile polyp, particularly if unusual histologic features such as atypical polyps or ectopic ganglion cells are encountered.

Original languageEnglish (US)
Pages (from-to)155-161
Number of pages7
JournalPediatric and Developmental Pathology
Volume3
Issue number2
DOIs
StatePublished - Jan 1 2000

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Keywords

  • Atypical polyps
  • Bannayan-Riley-Ruvalcaba syndrome
  • Ectopic ganglion cells
  • Juvenile polyposis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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