Colon tumor
Mesenchymal tumors
Ganglioneuromatosis of colon

Reviewers: Charanjeet Singh, M.D. (see Authors page)

Revised: 29 February 2016, last major update March 2012

Copyright: (c) 2003-2016,, Inc.

PubMed Search: Ganglioneuromatosis colon
Definition / General
  • Either polypoid ganglioneuromas, ganglioneuromatous polyposis or diffuse ganglioneuromatosis
  • Usually arises from nerves within bowel wall
  • Adults may have polyps, but usually a microscopic diagnosis (Gastroenterol Clin Biol 2003;27:219)
  • Low malignant potential

    Polypoid ganglioneuromas:
    • Small, solitary / few
    • Ganglion cells in nests in submucosa or mucosa, usually relatively normal surrounding tissue

    Ganglioneuromatous polyposis:
    • More than 20 lesions, each with greater variability in ganglionic, neural and stromal content

    Diffuse ganglioneuromatosis:
    • Proliferation of neural elements involving entire enteric plexus (Ann Pathol 2004;24:129)
    • Large lesions up to 17 cm, poorly demarcated, which can distort surrounding tissue
    • May cause diarrhea
    • Associated with neurofibromatosis type 1 (NF-1 mutation), MEN 2b/3 (RET mutation, Am J Surg Pathol 1994;18:250, Gut 1999;45:143) or Cowden’s disease (PTEN mutation)
  • Case Reports
  • 42 year old woman with Cowden syndrome and colonic polyposis (Case of the Week #380)
  • 63 year old man with prior tubular adenoma and new colon polyp (Case of the Week #305)
  • 77 year old woman with mucinous adenocarcinoma and hyperparathyroidism (Eur J Gastroenterol Hepatol 1999;11:447)
  • Causing chronic diarrhea (Ugeskr Laeger 1998;160:7139)
  • Gross Description
  • Polypoid
  • Sessile or pedunculated
  • Gross Images

    Images hosted on PathOut server:

    Case of the Week #380

    Images hosted on other servers:

    Ganglioneuromatous polyposis

    Micro Description
  • Proliferation of ganglion cells and spindled Schwann cells in lamina propria and deeper layers
  • May see accentuation of submucosal and myenteric plexus in MEN 2b/3
  • Micro Images

    Images hosted on PathOut server:

    Case of the Week #380

    Case of the Week #305: solitary ganglioneuroma

    Images hosted on other servers:

    Diffuse ganglioneuromatosis

    Left: polypoid ganglioneuroma; right: ganglioneuromatous polyposis

    Positive Stains
  • Schwann cells: S100+
  • Nerve fibers: NSE+, synaptophysin+, neurofilament+, S100-
  • Ganglion cells: c-Ret+, S100+
  • Molecular / Cytogenetics Description
  • c-RET mutations, even without MEN2b syndrome (J Clin Endocrinol Metab 1998;83:4191)
  • Differential Diagnosis
  • Crohn's disease (AJR Am J Roentgenol 2004;182:1166)
  • Intestinal neuronal dysplasia