Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review

Hum Pathol. 2012 Apr;43(4):601-4. doi: 10.1016/j.humpath.2011.06.022. Epub 2011 Oct 21.

Abstract

Cowden syndrome is a rare, autosomal-dominant, multisystem disorder characterized by hamartomatous tissue overgrowth and an increased risk of breast, thyroid, and endometrial cancers. Most of the cases arise from germline mutations of the phosphatase and tensin homologue tumor suppressor gene. An association with colon cancer remains unproven but has been suggested in previous reports. We present the case of a 42-year-old man with colonic ganglioneuromatous polyps and an adjacent colonic adenoma giving rise to a signet-ring adenocarcinoma with lymph node metastases in the setting of Cowden syndrome. Although gastrointestinal polyps are a common feature of Cowden syndrome, reports of ganglioneuromatous polyps and malignant degeneration are rare. Cutaneous features of Cowden syndrome in our patient include "cobblestone" lesions of the tongue and oral mucosa, facial trichilemmomas, multiple acral keratoses, and a storiform collagenoma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology*
  • Adenocarcinoma / secondary
  • Adenocarcinoma / surgery
  • Adult
  • Carcinoma, Signet Ring Cell / genetics
  • Carcinoma, Signet Ring Cell / pathology*
  • Carcinoma, Signet Ring Cell / surgery
  • Codon, Nonsense
  • Colon / pathology
  • Colonic Neoplasms / genetics
  • Colonic Neoplasms / pathology*
  • Colonic Neoplasms / surgery
  • Colonic Polyps / genetics
  • Colonic Polyps / pathology*
  • Colonic Polyps / surgery
  • Ganglioneuroma / genetics
  • Ganglioneuroma / pathology*
  • Ganglioneuroma / surgery
  • Hamartoma Syndrome, Multiple / genetics
  • Hamartoma Syndrome, Multiple / pathology*
  • Hamartoma Syndrome, Multiple / surgery
  • Humans
  • Intestinal Polyposis / genetics
  • Intestinal Polyposis / pathology
  • Intestinal Polyposis / surgery
  • Lymphatic Metastasis
  • Male
  • Membrane Proteins / genetics
  • PTEN Phosphohydrolase / genetics
  • Skin / pathology
  • Skin Neoplasms / pathology

Substances

  • Codon, Nonsense
  • Membrane Proteins
  • TPTE protein, human
  • PTEN Phosphohydrolase