30 May 2026
: Case report 
An Isolated Colonic Neurofibroma Without Systemic Neurofibromatosis: A Rare Case Report and Literature Review
Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)
Hussain Ahmed Alessa ABDEF 1*, Tahar Yacoubi DE 2, Abdulrahman Almutawa BDEF 1, Afnan Alshayeb ABDEF 3, Abdulaziz Althunayyan DE 1, Amaal Alqarfan DF 1, Saud Mohammed Alsubaie BD 1, Sarah Alomar AD 1, Fatimah Aljalal DE 1, Ayman Aledreesi BD 1, Wael Abdelgawad ABDEF 4DOI: 10.12659/AJCR.952586
Am J Case Rep 2026; 27:e952586
Table 1 List of isolated gastrointestinal neurofibromas in patient without neurofibromatosis type 1 (NF1).
| Reference | Age (years) | Sex | Presentation/indication for colonoscopy | Location | Size | Pathology | Treatment type |
|---|---|---|---|---|---|---|---|
| Keith and Albert (1937) []1 | 50 | F | Pain | Rectum | NA | Benign spindle cell lesion | NA |
| Woolf (1938) []39 | 70 | M | Asymptomatic | Rectum | 55 mm | Spindle cell lesion with rare mitoses | NA |
| Butler and Hanna (1959) []40 | 45 | F | Pain, bleeding, tenesmus | Rectum | NA | Plexiform neurofibroma | NA |
| Geboes et al (1978) []41 | NA | NA | NA | Rectum | Diagnosis confirmed by electron microscopy | NA | |
| Abramson et al (1997) []16 | 53 | M | Rectal bleeding | Transverse colon | 22 mm | Neurofibroma S100+ | Endoscopic resection |
| Bononi et al (2000) []5 | 68 | F | Rectal bleeding, tenesmus | Diffuse involvement | 60 mm | Neurofibroma S100+, SMA− | Surgery |
| Panteris et al (2005) []14 | 65 | F | Bloody diarrhea, abdominal pain | Descending colon | 10 mm | Neurofibroma S100+, vimentin+, desmin −, SMA−, c-kit−, CD34− | Endoscopic resection |
| Carter and Laurini (2008) []42 | 52 | F | Non-bloody diarrhea, pain | Rectum, transverse colon | NA | Neurofibroma S100+ | |
| Hindy et al (2012) []33 | 59 | M | Screening colonoscopy | Transverse colon | 3 mm | Neurofibroma S100+ | Endoscopic resection |
| Chelimilla et al (2013) []35 | 70 | F | Asymptomatic, Screening colonoscopy | Ascending colon | 20 mm | Neurofibroma S100+, CD117−, SMA−, desmin− | Endoscopic resection |
| Bilal et al (2016) []43 | 52 | M | Pain | Proximal descending colon | 3 mm | Neurofibroma: S100+ | Endoscopic resection |
| Ahn et al (2016) []7 | 26 | F | Screening colonoscopy | Sigmoid colon | 40 mm | Neurofibroma: S100+, CD34+, c-kit (CD117)−, DOG 1−, SMA− | Endoscopic resection |
| Fulgence et al (2016) []32 | 37 | F | Painful abdominal mass | Transverse colon | 60 mm | Neurofibroma: (No immunohistochemistry) | Surgery (laparotomy) |
| Parmar et al (2016) []26 | 13 | F | Rectal bleeding | Rectum | 73 mm | Neurofibroma: S100+, c-kit (CD117)−, desmin− | Surgery (laparotomy) |
| Adioui et al (2018) []31 | 29 | F | Pain in left iliac fossa, Fatigue | Sigmoid colon | 60 mm | Neurofibroma: S100+, CD34−, c-kit (CD117)−, desmin− | Surgery (laparotomy) |
| Miao et al (2018) []29 | 24 | F | Pain, Mass in stool | Ileocecal valve | 60 mm | Neurofibroma: S100+, CD117−, CD34−, Actin−, desmin−, DOG 1−, low Ki-67 (1%) | Surgery (laparoscopic) |
| Ogundoyin and Ajani (2018) []44 | 12 | M | Painless left hypochondrial abdominal mass | Splenic flexure | 85 mm | Neurofibroma: (No immunohistochemistry) | Surgery (laparotomy) |
| Imagami et al (2020) []27 | 81 | F | Positive fecal occult blood | Hepatic flexure | 50 mm | Neurofibroma: S100+, CD34−, c-kit (CD117)−, desmin− | Surgery |
| Ghoneim et al (2020) []28 | 51 | M | Screening colonoscopy | 15 cm from anal verge | 30 mm | Neurofibroma: S100+, low Ki-67 index | Endoscopic resection |
| Sun et al (2020) []30 | 33 | F | Screening colonoscopy | Ascending colon | 22 mm | Neurofibroma: S100+ | Endoscopic resection |
| Tinguria (2022) []34 | 76 | M | Anemia, GERD symptoms | Sigmoid colon | 6 mm | Neurofibroma: vimentin+, S100+, EMA+, SOX 10+, CD34+ (patchy), neurofilament+, desmin−, CD117−, Pan-cytokeratin (AE1/AE3)−, HMB 45−, melanoma cocktail−, synaptophysin−, chromogranin−, DOG 1− | Endoscopic resection |
| Our case (2025) | 72 | M | Mild recurrent abdominal pain associated with occasional constipation and unintentional weight loss | Cecum | 4.7×2.2 cm | Neurofibroma: vimentin+, S100+, CD34+, GFAP−, EMA−, CD117−, ALK-1−, Ki-67: very low, Alcian blue special stain highlights the myxoid changes of the tumor | Surgery (laparotomy with right hemicolectomy) |
| NA – not available. | |||||||