Isolated colonic neurofibroma in the setting of Lynch syndrome: A case report and review of literature

BACKGROUND Gastrointestinal neurofibromas are commonly found in patients diagnosed with neurofibromatosis type 1. However, isolated gastrointestinal neurofibromas are a rare entity and only fourteen cases of isolated colorectal neurofibromas have been documented in literature. Isolated gastrointestinal neurofibromas have not been associated with Lynch syndrome (LS). Patients with LS are at an increased risk of colorectal cancer, and are recommended to undergo screening colonoscopy. CASE SUMMARY A 33-year-old healthy female with a family history of LS was found to have unresectable polyp in the ascending colon on screening colonoscopy suspicious for malignancy. The patient was asymptomatic and had no stigmata of neurofibromatosis. A staging workup for colorectal cancer revealed no evidence of metastatic disease. A discussion with the patient resulted in the decision to undergo a segmental resection with ongoing surveillance. The patient underwent a laparoscopic right hemicolectomy. Histopathology was consistent with a gastrointestinal neurofibroma. Post-operatively, the patient recovered well. She will not require further treatment with regards to her colonic neurofibroma, but will continue to follow-up for ongoing surveillance of her LS. CONCLUSION We present the first case of an isolated colonic neurofibroma in a patient with LS. This case explores considerations for the management of isolated gastrointestinal neurofibromas given the lack of guidelines in literature.