Kosin Med J.  2023 Jun;38(2):138-143. 10.7180/kmj.22.123.

Sigmoid colon plexiform neurofibroma as a colonic subepithelial mass: a case report

• Baek HW
• Choi EJ
• Yu SJ
• Kim M
• Lee SH
• Jee SR
• Baik H
• Lee HS

• KMID: 2543334
• DOI: http://doi.org/10.7180/kmj.22.123

Abstract

Plexiform neurofibroma (PN) is an uncommon benign tumor, usually associated with neurofibromatosis type 1. As most PNs involve the craniomaxillofacial region, PN of the colon is very rare. Here we present a case of PN involving the sigmoid colon. A 43-year-old male patient presented to the outpatient clinic for the evaluation of an incidentally discovered sigmoid colon mass. A colonoscopic biopsy was performed for the mass, and the result revealed neuronal proliferation. The patient visited the outpatient clinic a year later with symptoms of abdominal pain and stool caliber change. Biopsy was repeated for the sigmoid colon mass, and the results showed mucosal Schwann cell proliferation and S-100 immunostaining positivity. Computed tomography and magnetic resonance imaging were performed for further evaluation, and neurofibroma or schwannoma was suspected based on the imaging studies. For an accurate diagnosis, the patient underwent surgery to remove the sigmoid colon mass. The final diagnosis of the mass was confirmed as PN. We hereby report a rare case of PN involving the sigmoid colon that could not be diagnosed before surgery.

Keyword

Case reports; Neurofibromatosis; Plexiform neurofibroma; Sigmoid colon

Figure

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  Fig. 1. Colonoscopic findings. (A) An encircling, edematous, colonic mass at the sigmoid colon was observed on initial colonoscopy. (B, C) An encircling, edematous, mucosal lesion at 23 cm from the anal verge on colonoscopy at the time of a follow-up evaluation with symptoms 1 year later. There were no significant changes in the findings of the follow-up colonoscopy compared to the initial colonoscopic findings 1 year prior.

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  Fig. 2. Pathologic findings of the colonoscopic biopsy. (A) Spindle cells with plump cytoplasm were noted in the lamina propria (hematoxylin and eosin stain, ×200). (B) The cells were positive for S100 protein (anti-S100 immunohistochemical stain, ×200).

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  Fig. 3. Imaging findings. (A) Computed tomography was performed for further evaluation, demonstrating annular wall thickening and a 6-cm multinodular soft tissue mass in the mesosigmoid colon (arrow). (B) Magnetic resonance imaging of the pelvis demonstrating a mesosigmoid mass. There was an irregular, lobulated, 6.2-cm-diameter, T2-high-intensity lesion at the mesosigmoid with adjacent focal annular wall thickening at the mid-sigmoid colon (arrow).

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  Fig. 4. Image of the resected specimen and the pathologic findings of a sigmoid colon mass after complete surgical removal. (A) The resected segment of the colon was approximately 6.5 cm in length and 4.2 cm in circumference (arrow). (B) Lower-power view demonstrating multiple well-defined nerve bundles with nodular appearance (hematoxylin and eosin stain, ×10). (C) High-power view of representative area of fibroblast-like cells scattered in wire-like collagen fibrils. No nuclear palisading or Verocay bodies were observed (hematoxylin and eosin stain, ×40).

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  Fig. 5. Image of representative café-au-lait macules on the back. More than 6 café-au-lait macules were observed.

Reference

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