Diagnosis

Diagnosis

Ganglioneuroma

Discussion

Ganglioneuromas are composed of ganglion cells (large cells with prominent nucleoli and abundant eosinophilic cytoplasm), nerve fibers, and supporting cells. They are rare within the gastrointestinal (GI) tract and fall into three general categories: polypoid ganglioneuroma, ganglioneuromatosis polyposis, and diffuse ganglioneuromatosis. Patients with polypoid ganglioneuromas are often asymptomatic but can present with symptoms such as abdominal pain, constipation, weight loss, obstruction, ileus, and bleeding depending on size and location of the lesions. Polypoid ganglioneuroma can have a variety of presentations. They generally present as small sessile or pedunculated polyps, and histologically appear as ganglion cells in nests in the mucosa and/or submucosa, usually without significant architectural disruption. However, as this case shows, they can also rarely present as incidental finding on a random biopsy without an endoscopically obvious polyp. Patients with ganglioneuromatosis polyposis typically present with greater than 20 sessile or pedunculated mucosal and/or submucosal lesions. These lesions may be microscopically indistinguishable from polypoid ganglioneuroma. Patients with diffuse ganglioneuromatosis present with diffuse, nodular, intra or transmural proliferation of neural elements resulting in large, poorly demarcated lesions that can distort the surrounding architecture. Diffuse ganglioneuromatosis is associated with genetic syndromes, including neurofibromatosis 1, multiple endocrine neoplasia 2B syndrome, and Cowden’s disease. Isolated polypoid ganglioneuromas are not typically associated with genetic syndromes.

Ganglioneuromas in the GI tract are usually treated endoscopically with complete excision. There are no current management guidelines for polypoid ganglioneuroma. Genetic testing and additional screening should be considered for patients with diffuse ganglioneuromatosis, due to the association with genetic syndromes.

Ganglion cells can histologically mimic CMV; both ganglion cells and CMV-infected cells are larger than most stromal cells, and the abundant eosinophilic cytoplasm and large nucleoli of ganglion cells can mimic CMV inclusions. The atypical presentation in a random biopsy with concern for CMV made this case challenging given the immunocompromised setting where inflammation is not always prominent. IHC can be helpful with distinguishing CMV-infected cells from ganglion cells, like in this case, but is not necessary in everyday practice.

References

Chan OT, Haghighi P. Hamartomatous polyps of the colon: ganglioneuromatous, stromal, and lipomatous. Arch Pathol Lab Med. 2006 Oct;130(10):1561-6. doi: 10.5858/2006-130-1561-HPOTCG. PMID: 17090203.

Abraham G, Prakash SR. Solitary Colonic Ganglioneuroma: A Rare Incidental Finding of Hematochezia. Case Rep Gastrointest Med. 2015;2015:794985. doi: 10.1155/2015/794985. Epub 2015 May 14. PMID: 26075113; PMCID: PMC4446460.

Shekitka KM, Sobin LH. Ganglioneuromas of the gastrointestinal tract. Relation to Von Recklinghausen disease and other multiple tumor syndromes. Am J Surg Pathol. 1994 Mar;18(3):250-7. PMID: 7906923.

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