Colon
Mesenchymal tumors
Ganglioneuromatosis
Author: Raul S. Gonzalez, M.D.
Last author update: 19 February 2021
Last staff update: 8 March 2021
Copyright: 2003-2024, PathologyOutlines.com, Inc.
PubMed Search: Ganglioneuromatosis colon
Table of Contents
Definition / 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 #1Cite this page: Gonzalez RS. Ganglioneuromatosis. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/colontumorganglioneuromatosis.html. Accessed December 26th, 2024.
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
- Mural thickening and luminal narrowing (AJR Am J Roentgenol. 2004;182:1166)
Case reports
- 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)
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
- 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.
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?
- Cowden syndrome
- Familial schwannomatosis
- Lynch syndrome
- Neurofibromatosis type 1
Board review style answer #1
