Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Surg. Jan 27, 2020; 12(1): 28-33
Published online Jan 27, 2020. doi: 10.4240/wjgs.v12.i1.28
Isolated colonic neurofibroma in the setting of Lynch syndrome: A case report and review of literature
Warren YL Sun, Armaan Pandey, Mark Lee, Shawn Wasilenko, Shahzeer Karmali
Warren YL Sun, Shahzeer Karmali, Division of General Surgery, University of Alberta, Edmonton T6G 2B7, Alberta, Canada
Armaan Pandey, Cumming School of Medicine, University of Calgary, Calgary T2N 4Z6, Alberta, Canada
Mark Lee, Department of Laboratory Medicine & Pathology, University of Alberta, Edmonton T5H 3V9, Alberta, Canada
Shawn Wasilenko, Division of Gastroenterology, University of Alberta, Edmonton T5H 3V9, Canada
Author contributions: Sun WYL and Pandey A contributed to manuscript drafting; Lee M completed the histopathological diagnosis; Wasilenko S was the patient’s gastroenterologist and performed the colonoscopy; Karmali S was the patient’s surgeon; all authors were responsible for the revision of the manuscript and final approval for submission.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
CARE Checklist (2016) statement: The manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Warren YL Sun, MD, Doctor, Division of General Surgery, University of Alberta, 2D, Walter C Mackenzie Health Sciences Centre, 8440 - 112 Street, Edmonton T6G 2B7, Canada.
Received: August 3, 2019
Peer-review started: August 3, 2019
First decision: September 10, 2019
Revised: September 24, 2019
Accepted: November 26, 2019
Article in press: November 26, 2019
Published online: January 27, 2020

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.


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.


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.

Keywords: Isolated gastrointestinal neurofibroma, Colonic neurofibroma, Gastrointestinal neurofibromatosis, Lynch syndrome, Case report

Core tip: Gastrointestinal neurofibromas are rarely found in isolation in the absence of systemic neurofibromatosis. We present herein, the first case of an isolated colonic neurofibroma in a patient with Lynch syndrome. There are currently no guidelines for the management of isolated gastrointestinal neurofibromas due to the lack of studies. We recommend considering establishing a diagnosis with endoscopic mucosal biopsy or ultrasound guided biopsy, reserving resection for patients with symptomatic disease or alternative indications, and continuing to follow patients for the surveillance of neurofibromatosis type 1 to reduce associated morbidity and mortality.