Isolated Rectal Neurofibroma: A Case Report and Literature Review

Neurofibromas are considered benign peripheral nerve sheath tumors containing Schwann cells, fibroblasts, and perineurial cells. They are commonly associated with familial disorders. Isolated colonic neurofibromas are very rare. In this report, we discuss a case of a patient who presented to the gastroenterology clinic with a week-long occurrence of abdominal pain and bleeding. She underwent a colonoscopy in which three sentinel polyps of benign appearance, ranging in size from 4 mm to 10 mm, were removed during the procedure. The pathology report indicated that the distal rectal polyp contained a submucosal neurofibroma with SOX10+, desmin-, CD117-, DOG1-, CD34+. While NF1-associated neurofibromas harbor the risk of malignant transformation into malignant peripheral nerve sheath tumors (MPNSTs), the malignancy potential for isolated colonic neurofibromas remains uncertain due to their rarity. The clinical significance of isolated colonic neurofibromas is yet to be defined; therefore, the optimal management strategy remains uncertain. Close monitoring is advocated to both exclude the possibility of neurofibromatosis and be vigilant about the risk of malignant transformation.