An Isolated Colonic Neurofibroma Without Systemic Neurofibromatosis: A Rare Case Report and Literature Review

Background:Solitary neurofibromas of the colon are extremely rare and are most often reported in patients with neurofibromatosis type 1 (NF1).Although usually benign, these lesions can rarely undergo malignant transformation, particularly when associated with NF1.Therefore, isolated cases merit careful evaluation and follow-up. Case Report:A man in his 70s with a history of benign prostatic hyperplasia presented with recurrent abdominal pain, constipation, and unintentional weight loss of 5 kg over 1 month.Physical examination revealed a firm, non-mobile mass in the right lower quadrant, with no other systemic findings or features suggestive of NF1.Laboratory investigations were within normal limits except for mildly elevated lactate dehydrogenase, while carcinoembryonic antigen was normal.Computed tomography and magnetic resonance imaging demonstrated a cystic lesion arising at the base of the appendix and protruding into the cecum.Colonoscopy revealed a large, smooth polypoid mass, and biopsy showed a spindle-cell lesion of neurogenic origin.The patient underwent an open right hemicolectomy with primary ileocolic anastomosis, due to persistent symptoms and concern for potential complications.Final histopathology confirmed a benign isolated colonic neurofibroma with negative resection margins and a reactive mesocolic lymph node, with no evidence of malignancy.The postoperative course was uneventful.The patient remained asymptomatic, with no recurrence during more than 3 years of follow-up. Conclusions:This case highlights that isolated colonic neurofibroma should be included in the differential diagnosis of nonspecific or submucosal colonic masses.Long-term follow-up is important to monitor for local recurrence, possible malignant transformation, and the later appearance of NF1 features.

Authors

Institutions

Publication Details

Journal
American Journal of Case Reports
Published
2026-04-16
DOI
https://doi.org/10.12659/ajcr.952586
Primary Topic
Neurofibromatosis and Schwannoma Cases
Type
article
Field-Weighted Citation Impact
0.00

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

An Isolated Colonic Neurofibroma Without Systemic Neurofibromatosis: A Rare Case Report and Literature Review

Ayman Aledreesi, Tahar Yacoubi, A. Almutawa, Wael Abdelgawad et al.
American Journal of Case Reports
Neurofibromatosis and Schwannoma Cases
article

An Isolated Colonic Neurofibroma Without Systemic Neurofibromatosis: A Rare Case Report and Literature Review

Ayman Aledreesi, Tahar Yacoubi, A. Almutawa, Wael Abdelgawad, Fatimah Aljalal, Hussain Ahmed Alessa, Amaal Alqarfan, Abdulaziz Althunayyan, Afnan Alshayeb, Sarah Alomar, Saud Mohammed Alsubaie
article en

Abstract

Background:Solitary neurofibromas of the colon are extremely rare and are most often reported in patients with neurofibromatosis type 1 (NF1).Although usually benign, these lesions can rarely undergo malignant transformation, particularly when associated with NF1.Therefore, isolated cases merit careful evaluation and follow-up. Case Report:A man in his 70s with a history of benign prostatic hyperplasia presented with recurrent abdominal pain, constipation, and unintentional weight loss of 5 kg over 1 month.Physical examination revealed a firm, non-mobile mass in the right lower quadrant, with no other systemic findings or features suggestive of NF1.Laboratory investigations were within normal limits except for mildly elevated lactate dehydrogenase, while carcinoembryonic antigen was normal.Computed tomography and magnetic resonance imaging demonstrated a cystic lesion arising at the base of the appendix and protruding into the cecum.Colonoscopy revealed a large, smooth polypoid mass, and biopsy showed a spindle-cell lesion of neurogenic origin.The patient underwent an open right hemicolectomy with primary ileocolic anastomosis, due to persistent symptoms and concern for potential complications.Final histopathology confirmed a benign isolated colonic neurofibroma with negative resection margins and a reactive mesocolic lymph node, with no evidence of malignancy.The postoperative course was uneventful.The patient remained asymptomatic, with no recurrence during more than 3 years of follow-up. Conclusions:This case highlights that isolated colonic neurofibroma should be included in the differential diagnosis of nonspecific or submucosal colonic masses.Long-term follow-up is important to monitor for local recurrence, possible malignant transformation, and the later appearance of NF1 features.

American Journal of Case ReportsVol. 27
Dar Al Uloom University (SA), National Guard Health Affairs (SA)
King Abdullah International Medical Research Center
Zero hunger
Openalex Percentile: Top 6%
Neurofibromatosis and Schwannoma Cases
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.