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Multiple non-polypoid mucosal Schwann cell hamartomas presenting as edematous and submucosal tumor-like lesions: a case report

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Background Mucosal Schwann cell hamartomas are rare neurogenic tumors which present most commonly in the distal colon. They are usually discovered as small, single polyps in asymptomatic patients. Case presentation… Click to show full abstract

Background Mucosal Schwann cell hamartomas are rare neurogenic tumors which present most commonly in the distal colon. They are usually discovered as small, single polyps in asymptomatic patients. Case presentation An asymptomatic 64-year-old man was referred to us after a 12 mm subepithelial lesion was discovered incidentally on screening colonoscopy. Follow-up colonoscopy conducted 2 months later revealed that the tumor had disappeared, leaving multiple edematous, submucosal tumor-like elevations presenting as skip lesions throughout the sigmoid colon. Lesions had elongated pits on magnifying endoscopy and were limited to the first layer on endoscopic ultrasound. Biopsies revealed unclearly delineated foci of spindle-shaped cells limited to the lamina propria. On immunohistochemistry, all lesions were positive for S-100 protein and negative for CD34, CD56, and neurofilament protein. The patient was diagnosed with multiple mucosal Schwann cell hamartomas of the sigmoid colon. He remains asymptomatic after 18 months of follow-up, but the lesions have also remained unchanged. Conclusion We report a case of multiple non-polypoid mucosal Schwann cell hamartomas. Endoscopic findings may assist in the differential diagnosis, particularly when presenting as non-polypoid, submucosal tumor-like lesions.

Keywords: cell hamartomas; mucosal schwann; schwann cell

Journal Title: BMC Gastroenterology
Year Published: 2021

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