A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I

Abstract

A 45-year-old woman was referred to us after a positive fecal occult blood test. Colonoscopy revealed a 20-mm polyp in the transverse colon and a 10-mm polyp in the sigmoid colon. Endoscopic mucosal resection was performed as a diagnostic treatment. Both resected polyps were histologically diagnosed as perineuriomas. She was later found to exhibit multiple café-au-lait spots on the skin and subsequently diagnosed as having neurofibromatosis type I (NF-1). Perineuriomas are rare benign peripheral nerve sheath tumors, with no reports of multiple colonic lesions in a patient with NF-1 to date. NF-1 might be associated with the onset of multiple perineuriomas.

Mesenchymal Tumors of the Gastrointestinal Tract—Beyond GIST—A Review

“…Some cases have been associated with NF1/2 mutations [123] and serrated polyposis with BRAF V600E mutations [124].…”