Table of ContentsDefinition / general | Essential features | Terminology | Clinical features | Radiology description | Case reports | Clinical images | Gross description | Microscopic (histologic) description | Microscopic (histologic) images | Positive stains | Molecular / cytogenetics description | Sample pathology report | Differential diagnosis | Board review style question #1 | Board review style answer #1
Cite this page: Gonzalez RS. Ganglioneuromatosis. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/colontumorganglioneuromatosis.html. Accessed March 28th, 2023.
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)
- Hamartomatous increase of glial and neuronal elements in the muscularis propria
- Has syndromic associations
- Must be distinguished from solitary ganglioneuromas and polypoid ganglioneuromatosis
- Also called transmural intestinal ganglioneuromatosis or diffuse intestinal ganglioneuromatosis
- Patients may have diarrhea or intestinal pseudo-obstruction
- Mural thickening and luminal narrowing (AJR Am J Roentgenol. 2004;182:1166)
- 45 year old woman with nonsyndromic intestinal ganglioneuromatosis (J Clin Pathol 2007;60:222)
- 63 year old man with prior tubular adenoma and new colon polyp (Case #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)
- 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
- S100 (neural cells and ganglion cells); synaptophysin, NSE (nerve fibers)
Molecular / cytogenetics description
- RET mutations, even without MEN IIb (J Clin Endocrinol Metab 1998;83:4191)
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.
- 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?
- Cowden syndrome
- Familial schwannomatosis
- Lynch syndrome
- Neurofibromatosis type 1
Board review style answer #1
D. Neurofibromatosis type 1