Massive Gastric Juvenile Polyposis: A Clinicopathologic Study Using SMAD4 Immunohistochemistry

Am J Clin Pathol. 2017 Apr 1;147(4):390. doi: 10.1093/ajcp/aqx015.

Abstract

Objectives: Juvenile polyps involving the stomach are uncommon. Massive gastric juvenile polyposis is even rarer.

Methods: We describe the clinicopathologic features of nine cases of massive gastric juvenile polyposis.

Results: All patients had anemia; four had hypoalbuminemia. The polyps were composed predominantly of dilated crypts lined by columnar epithelium and abundant edematous stroma with mixed inflammatory infiltrates. One patient had a poorly differentiated adenocarcinoma, arising in juvenile polyp-associated intraepithelial neoplasia. A second patient had a well-differentiated intramucosal adenocarcinoma arising in a juvenile polyp with high-grade dysplasia. Three of our cases had polyposis restricted to the stomach. Six (66.6%) had loss of SMAD4 immunoreactivity, making them subject to severe bleeding and hypoproteinemia, as well as developing severe dysplasia or adenocarcinoma.

Conclusions: SMAD4 immunohistochemstry is a helpful ancillary diagnostic test in cases of suspected juvenile polyposis syndrome involving the stomach.

Keywords: Immunohistochemistry; Juvenile polyps; Massive gastric juvenile polyposis; SMAD4.

MeSH terms

  • Adenocarcinoma / diagnosis
  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology*
  • Adenomatous Polyps / diagnosis
  • Adenomatous Polyps / genetics
  • Adenomatous Polyps / pathology*
  • Adult
  • DNA Mutational Analysis
  • Epithelium / metabolism
  • Epithelium / pathology
  • Female
  • Gastric Mucosa / metabolism
  • Humans
  • Immunohistochemistry
  • Intestinal Polyposis / congenital*
  • Intestinal Polyposis / diagnosis
  • Intestinal Polyposis / genetics
  • Intestinal Polyposis / pathology
  • Male
  • Middle Aged
  • Mutation
  • Neoplastic Syndromes, Hereditary / diagnosis
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / pathology*
  • Retrospective Studies
  • Smad4 Protein / genetics
  • Smad4 Protein / metabolism*
  • Stomach / pathology
  • Stomach Neoplasms / diagnosis
  • Stomach Neoplasms / genetics
  • Stomach Neoplasms / pathology*
  • Young Adult

Substances

  • SMAD4 protein, human
  • Smad4 Protein

Supplementary concepts

  • Juvenile polyposis syndrome
  • Polyposis, Gastric