Korean J Gastroenterol.  2015 Aug;66(2):111-115. 10.4166/kjg.2015.66.2.111.

Diffuse Ganglioneuromatosis of the Colon Presenting as a Large Subepithelial Tumor in Adults: Report of Two Cases

• Kim TJ
• Lim H
• Kang HS
• Moon SH
• Kim JH
• Park CK
• Kwon MJ
• Lee BH

• KMID: 2373323
• DOI: http://doi.org/10.4166/kjg.2015.66.2.111

Abstract

Colonic diffuse ganglioneuromatosis is a benign neoplastic condition characterized by disseminated, intramural, or transmural proliferation of neural elements involving the enteric plexuses, sometimes associated with von Recklinghausen's disease and other multiple tumor syndromes. Colonic diffuse ganglioneuromatosis is usually large, ranging from 1 to 17 cm, and thus can distort the surrounding tissue architecture as well as infiltrate the adjacent bowel wall. However, colonic diffuse ganglioneuromatosis is an exceptional finding in adults and only individual cases are reported in the literature. Herein, we report two unusual cases of adult patients with colonic diffuse transmural ganglioneuromatosis presenting as a large subepithelial tumor.

Keyword

Ganglioneuroma; Subepithelial tumor; Endoscopy; Colon

MeSH Terms

Adult
Aged
Colon/metabolism/*pathology
Colonoscopy
Ganglioneuroma/*diagnosis/metabolism/pathology
Humans
Immunohistochemistry
Male
S100 Proteins/metabolism
Tomography, X-Ray Computed
S100 Proteins

Figure

• 

  Fig. 1. Rectal diffuse ganglioneuromatosis. (A) Colonoscopy shows an 8 cm sized subepithelial tumor in the rectum that occupies half of the lumen. (B) CT scan shows subtle enhancement at the left-side wall in the rectosigmoid junction (white arrowhead). (C) The huge polypoid mass and adjacent mucosa reveal yellowish granular surface after overnight fixation in 10% neutral formalin. (D) The thickened mucosa is noted. The submucosa and muscle layer show proliferation of haphazardly arranged, large nerve plexuses (arrowheads) (H&E, ×40). (E) The thickened mucosa shows ganglion cell clusters (arrow) with nerve fibers (H&E, ×100; inset: ×400). (F) Immunohistochemical staining for S-100 protein highlights the abnormal nerve fibers and ganglion cells in the mucosa of colon (S-100, ×400). (G) The immunoreactivity for chromogranin reveals ganglion cell proliferation in the mucosa of colon (chromagranin, ×400).

• 

  Fig. 2. Diffuse ganglioneuromatosis of ascending colon. (A) Colonoscopy shows a 5 cm sized laterally spreading tumor in the ascending colon that has intact overlying mucosa. (B) CT scan shows an approximately 5 cm sized eccentric haustral fold thickening in the distal ascending colon (white arrowhead). (C) The surgical specimen shows a polypoid mass with finger-like projections. (D) The finger-like projection of the lesion consists of mucosal thickening and submucosal proliferations of thick nerve bundles (H&E, ×40). (E) The mucosa shows a uniform appearance of scattered ganglion cells (arrows) mixed with bland, spindle-shaped cells with Schwannian features (H&E, ×100). (F) Immunohistochemical staining shows strong positivity for S-100 protein in the mucosa of colon, consistent with the proliferation of ganglion and Schwann cells (S-100, ×40).

Reference

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