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 Citations (Scopus)

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 - Mar 2000

Fingerprint

Multiple Hamartoma Syndrome
Polyps
Pathology
Colonic Polyps
Ganglia
Biopsy
Young Adult
Histology
Mucous Membrane

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

Cite this

Bannayan-Riley-Ruvalcaba syndrome : Spectrum of intestinal pathology including juvenile polyps. / Lowichik, Amy; White, Frances V.; Timmons, Charles F.; Weinberg, Arthur G.; Gunasekaran, Thirumazhisai S.; Nathan, Kumar; Coffin, Cheryl M.

In: Pediatric and Developmental Pathology, Vol. 3, No. 2, 03.2000, p. 155-161.

Research output: Contribution to journalArticle

Lowichik, Amy ; White, Frances V. ; Timmons, Charles F. ; Weinberg, Arthur G. ; Gunasekaran, Thirumazhisai S. ; Nathan, Kumar ; Coffin, Cheryl M. / Bannayan-Riley-Ruvalcaba syndrome : Spectrum of intestinal pathology including juvenile polyps. In: Pediatric and Developmental Pathology. 2000 ; Vol. 3, No. 2. pp. 155-161.
@article{66888b5cb19d4baa94b099e305cdadd3,
title = "Bannayan-Riley-Ruvalcaba syndrome: Spectrum of intestinal pathology including juvenile polyps",
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.",
keywords = "Atypical polyps, Bannayan-Riley-Ruvalcaba syndrome, Ectopic ganglion cells, Juvenile polyposis",
author = "Amy Lowichik and White, {Frances V.} and Timmons, {Charles F.} and Weinberg, {Arthur G.} and Gunasekaran, {Thirumazhisai S.} and Kumar Nathan and Coffin, {Cheryl M.}",
year = "2000",
month = "3",
doi = "10.1007/s100249910016",
language = "English (US)",
volume = "3",
pages = "155--161",
journal = "Pediatric and Developmental Pathology",
issn = "1093-5266",
publisher = "Society for Pediatric Pathology",
number = "2",

}

TY - JOUR

T1 - Bannayan-Riley-Ruvalcaba syndrome

T2 - Spectrum of intestinal pathology including juvenile polyps

AU - Lowichik, Amy

AU - White, Frances V.

AU - Timmons, Charles F.

AU - Weinberg, Arthur G.

AU - Gunasekaran, Thirumazhisai S.

AU - Nathan, Kumar

AU - Coffin, Cheryl M.

PY - 2000/3

Y1 - 2000/3

N2 - 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.

AB - 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.

KW - Atypical polyps

KW - Bannayan-Riley-Ruvalcaba syndrome

KW - Ectopic ganglion cells

KW - Juvenile polyposis

UR - http://www.scopus.com/inward/record.url?scp=0033997396&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033997396&partnerID=8YFLogxK

U2 - 10.1007/s100249910016

DO - 10.1007/s100249910016

M3 - Article

C2 - 10679034

AN - SCOPUS:0033997396

VL - 3

SP - 155

EP - 161

JO - Pediatric and Developmental Pathology

JF - Pediatric and Developmental Pathology

SN - 1093-5266

IS - 2

ER -