Clin Endosc.  2022 May;55(3):452-457. 10.5946/ce.2021.013.

Development of colon cancer in a patient with longstanding colonic diffuse ganglioneuromatosis: a case report

• Oh JS
• Hong SW
• Noh JH
• Yoon J
• Kang HJ
• Park YS
• Yang DH
• Byeon JS

• KMID: 2529969
• DOI: http://doi.org/10.5946/ce.2021.013

Abstract

Colonic diffuse ganglioneuromatosis is an extremely rare disease in which multiple tumors derived from the ganglion cells, nerve fibers, and supporting cells are distributed in the colon. It is generally considered to be a benign neoplastic condition and is occasionally associated with rare hereditary conditions such as neurofibromatosis type I or multiple endocrine neoplasia type 2B. Here, we report a case of a patient in whom colon cancer developed 12 years after the initial diagnosis of colonic diffuse ganglioneuromatosis, which suggests a possible association between colonic diffuse ganglioneuromatosis and colorectal cancer.

Keyword

Colon; Colorectal cancer; Diffuse ganglioneuromatosis

Figure

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  Fig. 1. Initial colonoscopic findings of colonic diffuse ganglioneuromatosis. (A) Colonoscopy revealed the presence of multiple sessile polyps of varying diameters in the descending colon. (B) Some sessile polyps showed a hyperemic surface, but the overlying mucosa was intact with no definitive erosion or ulcer.

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  Fig. 2. Microscopic and immunohistochemical findings. (A) Histological examination of the biopsied tissue showed proliferation of the ganglion and spindle cells in the lamina propria (hematoxylin & eosin, ×100). Immunohistochemical stainings showed diffuse positivity for (B) neu­ronal nuclei (×200), (C) S-100 protein (×200), and (D) synaptophysin (×400).

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  Fig. 3. Colonoscopic findings of colon cancer in the background of colonic diffuse ganglioneuromatosis. (A) Initial colonoscopy at the time of diagnosis of colonic diffuse ganglioneuromatosis showed a large mass with intact, smooth overlying mucosa in the sigmoid colon. A very thick stalk-like structure was noted at the base of the mass. (B) Surveillance colonoscopy, 12 years after the initial diagnosis of colonic diffuse ganglioneuromatosis, showed a 2.9 cm mass at the same location as the initial lesion. The overlying mucosa was hyperemic with type IV and VI Kudo pit patterns. The stalk became more prominent.

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  Fig. 4. The surgical specimen after total colectomy. (A) Multiple polypoid lesions with colonic wall thickening from the descending to the sigmoid colon were observed. (B) A closer view showed diffuse ganglioneuromatosis with involvement of the entire colonic wall. (C) The subpedunculated lesion in the sigmoid colon showed adenocarcinoma arising from tubular adenoma. (D) Microscopic findings showed ganglion cell clusters (black arrow) in the area adjacent to moderately differentiated adenocarcinoma (red arrow; hematoxylin & eosin, ×40).

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