Franciscan St. James Health Chicago, IL, United States
Nicholas Baur, DO1, Mohammad Arfeen, DO2, Tilemahos Spyratos, DO3 1Franciscan St. James Health, Chicago, IL; 2Franciscan St. James Health, Olympia Fields, IL; 3Franciscan Health, Olympia Fields, IL
Introduction: Neurofibromatosis (NF) is an inherited disorder that involves dermatologic and mucosal changes in the form of lesions called neurofibromas. These are non-malignant tumors of various sizes that are composed of nerve sheath tissue. NF is categorized as Type 1, Type 2, or schwannomatosis. In NF type 1, there is increased risk of development of gastrointestinal stromal tumors. Despite relatively common GI involvement, isolated neurofibroma of the colon is considered rare, especially in patients without additional dermatologic or mucosal manifestations. Today we present a patient who underwent routine surveillance colonoscopy and was ultimately diagnosed with isolated neurofibroma of the colon.
Case Description/Methods: We describe a 56-year-old female with past medical history of diverticulosis, and IBS-C who presented for a routine screening colonoscopy. Endoscopic visualization revealed a 4 mm polyp in the ascending colon, a 3 mm polyp in the descending colon, one diminutive polyp in the sigmoid colon, sigmoid and descending diverticulosis, and internal hemorrhoids. The procedure was uncomplicated and the patient was discharged home and contacted with pathology results. Pathology review revealed a tubular adenoma of the ascending colon, hyperplastic colonic mucosa with lamina propria benign nerve sheath tumor (neurofibroma), and inflammatory sigmoid colon polyp. Of note, the patient did not exhibit any hearing loss, vision changes, balance issues, seizures, paresthesias, or any neurologic deficits. She did not have any B symptoms, skin changes, or pain. She was referred to Oncology and genetic counseling, and the importance of continued age-appropriate cancer screening was discussed. CT Chest/Abdomen/Pelvis and Soft Tissue Neck with Contrast was performed which showed bilateral prominent and mildly enlarged cervical lymph nodes. No additional mass or lymphadenopathy was identified.
Discussion: There are very few reported cases of isolated colonic neurofibroma. While an estimated 25% of patients with NF1 have GI involvement, the vast majority of them have more than an isolated single neurofibroma without additional involvement. Within the context of NF, the clinical implications of an isolated neurofibroma in the colon are not understood. Nevertheless, although these lesions are benign, they do possess malignant potential. Therefore, patients with neurofibromas need close outpatient follow up, and clinicians should stress the importance of age appropriate cancer screening in these individuals.
Figure: Isolated 3 mm descending colon polyp
Nicholas Baur indicated no relevant financial relationships.
Mohammad Arfeen indicated no relevant financial relationships.
Tilemahos Spyratos indicated no relevant financial relationships.
Nicholas Baur, DO1, Mohammad Arfeen, DO2, Tilemahos Spyratos, DO3. P2301 - Isolated Neurofibroma of the Descending Colon, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.