Isolated colonic neurofibroma, a rare tumor: A case report and review of literature

BACKGROUND: Neurofibromas are tumors comprised of peripheral nerve sheath and connective tissue components. They can occur sporadically or as part of familial syndromes such as neurofibromatosis type 1. Isolated colonic neurofibroma without systemic manifestations is a rarely reported clinical entity. Here we present a case of a 51 years old male with an isolated colonic neurofibroma seen on a screening colonoscopy. CASE SUMMARY: Fifty-one years old male who was otherwise healthy without a significant family history of cancer underwent a screening colonoscopy and was found have a 2.3 cm × 1.4 cm lesion in the colon. Tissue biopsy revealed a spindle cell tumor. Magnetic resonance imaging of the pelvis was negative for adenopathy. He underwent an endoscopic ultrasound that showed an ill-defined avascular lesion of mixed echogenicity measuring 2.8 cm × 15.2 cm in the submucosa with no communication with muscularis mucosa or propria. Immunohistochemistry staining of the tumor was strongly positive for S100, with rare penetrating axons deep within the tumor. Tumor cells were negative for c-kit and desmin and had low Ki-67 index. These findings were consistent with a solitary colonic submucosal neurofibroma. A detailed history and physical examination did not reveal any evidence of extraintestinal neurofibromatosis. He underwent transanal surgical resection of the tumor. The patient tolerated the procedure well without any complications. CONCLUSION: While neurofibromas have been well described in literature, an isolated colonic neurofibroma is a rare pathological entity. Malignant transformation of neurofibromas has been reported in patients with neurofibromatosis syndromes. We report a case of isolated colonic neurofibroma and highlight the importance of resection due to the increased risk of tumorigenesis.