Incidental finding of isolated colonic neurofibroma

Abstract

Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and neurofibromatosis type 2 (NF2). NF1 is by far the most common presentation and is caused by an autosomal dominant mutation in the NF1 gene mapped to chromosome 17q11.2. The literature shows that gastrointestinal involvement is noted in systemic neurofibromatosis in up to 25% of patients, but isolated intestinal neurofibromatosis is a very rare manifestation. We herein present the case of a 70-year-old woman who was diagnosed with an isolated colonic neurofibroma without any systemic signs of neurofibromatosis; only a few case reports of this condition have been published to date.

Keywords: Colonic polyps; Intestinal; Neurofibroma; Neurofibromatosis.

Fig. 1

Endoscopic view of the pedunculated polyp in the ascending colon.

Fig. 2

Histological features of colonic neurofibroma. Low-power view of hematoxylin and eosin-stained colonic mucosa with bland spindle cell proliferation in the submucosa (original magnification ×10).

Fig. 3

Colonic neurofibroma in high-power view showing the spindle cells in the submucosa (original magnification ×40).

Fig. 4

Immunohistochemical features of colonic neurofibroma. The tumor cells are strongly positive for S100 protein immunostaining (original magnification ×40).