Ganglioneuromatosis of colon

Colon tumor
Mesenchymal tumors
Diffuse ganglioneuromatosis of colon

Author: Raul S. Gonzalez, M.D. (see Authors page)

Revised: 4 January 2017, last major update October 2016

Copyright: (c) 2003-2017, PathologyOutlines.com, Inc.

PubMed Search: Ganglioneuromatosis colon

Table of Contents

Cite this page: Ganglioneuromatosis of colon. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/colontumorganglioneuromatosis.html. Accessed July 14th, 2017.

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

42 year old woman with Cowden syndrome and colonic polyposis (Case of the Week #380)
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 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)

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

Gross images

Images hosted on PathOut server:

Case of the Week #380

Images hosted on other servers:

Ganglioneuromatous polyposis

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

Images hosted on PathOut server:

Images contributed by Raul S. Gonzalez, MD:

Low power view highlighting mucosal disease

Low power view showing mural disease

Medium power view of mucosal disease

Medium power view
showing ganglion and
spindled proliferation
in muscularis propria

High power view
showing mural
disease with numer-
ous ganglion cells

Case of the Week #305:

Solitary ganglioneuroma

Case of the Week #380:

Images hosted on other servers:

Diffuse ganglioneuromatosis

Left: polypoid ganglioneuroma; right: ganglioneuromatous polyposis

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)

Differential diagnosis

Crohn 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 of the Week #305)
Ganglioneuromatous polyposis: more than 20 polypoid mucosa based lesions, with variability in ganglionic and neural content; associated with Cowden syndrome / PTEN mutations (Case of the Week #380)