Colon
Mesenchymal tumors
Ganglioneuromatosis


Topic Completed: 19 February 2021

Minor changes: 8 March 2021

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PubMed Search: Ganglioneuromatosis colon

Raul S. Gonzalez, M.D.
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Cite this page: Gonzalez RS. Ganglioneuromatosis. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/colontumorganglioneuromatosis.html. Accessed May 7th, 2021.
Definition / general
  • Benign hamartomatous proliferation involving the colonic muscularis propria
  • Often associated with MEN IIb (RET mutations) and neurofibromatosis type 1 (NF1 mutations) (Am J Surg Pathol 1994;18:250, Gut 1999;45:143)
Essential features
  • Hamartomatous increase of glial and neuronal elements in the muscularis propria
  • Has syndromic associations
  • Must be distinguished from solitary ganglioneuromas and polypoid ganglioneuromatosis
Terminology
  • Also called transmural intestinal ganglioneuromatosis or diffuse intestinal ganglioneuromatosis
Clinical features
  • Patients may have diarrhea or intestinal pseudo-obstruction
Radiology description
Case reports
Clinical images

Images hosted on other servers:

Small bowel follow through showing luminal narrowing


Gross description
  • Poorly demarcated mural thickening, up to 17 cm in length, which can distort surrounding tissue
Microscopic (histologic) description
  • Proliferation of neural cells and ganglion cells in muscularis propria and sometimes in other layers
  • No evidence of malignancy
Microscopic (histologic) images

Contributed by Raul S. Gonzalez, M.D.

Mucosal disease

Mural disease

Mucosal disease

Ganglion and
spindled
proliferation in
muscularis propria

Mural disease with numerous ganglion cells



Case #305

Solitary ganglioneuroma



Images hosted on other servers:

Diffuse ganglioneuromatosis

Positive stains
Molecular / cytogenetics description
Sample pathology report
  • Rectum, resection:
    • Segment of large bowel with extensive ganglioneuromatosis, extending to distal resection margin (see comment)
    • Proximal resection margin unremarkable.
    • Negative for malignancy.
    • Three benign lymph nodes.
    • Comment: Colorectal ganglioneuromatosis is often seen in the setting of a clinical syndrome, including MEN IIb and neurofibromatosis type 1.
Differential diagnosis
  • Crohn's disease:
    • May show neural hyperplasia but mucosal and mural inflammation are also present
  • Intestinal neuronal dysplasia:
    • Controversial entity harboring increased ganglion cells; no mural thickening
  • Polypoid ganglioneuroma:
    • Small, solitary / few, mucosa based, nonsyndromic (Case #305)
  • Ganglioneuromatous polyposis:
    • More than 20 polypoid mucosa based lesions, with variability in ganglionic and neural content; associated with Cowden syndrome / PTEN mutations
Board review style question #1
Colonic ganglioneuromatosis is most common in which of the following syndromes?

  1. Cowden syndrome
  2. Familial schwannomatosis
  3. Lynch syndrome
  4. Neurofibromatosis type 1
Board review style answer #1
D. Neurofibromatosis type 1

Comment Here

Reference: Ganglioneuromatosis
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