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- Title
NF1 -Associated Inflammatory Polyp of the Colon: First Report of a Sporadic Case.
- Authors
Kanaan, Christina; Cotteret, Sophie; Khneisser, Pierre; Soufan, Ranya; Bani, Mohamed-Amine; Burtin, Pascal; Sourrouille, Isabelle; Ducreux, Michel; Al Ghuzlan, Abir; Scoazec, Jean-Yves
- Abstract
"Juvenile-like (hyperplastic/inflammatory) mucosal polyp" is a term proposed for rare benign mesenchymal lesions of the gastro-intestinal tract so far reported only in patients with type 1 neurofibromatosis (NF1). We report here a first sporadic case of NF1 -associated mucosal inflammatory polyp of the colon. The diagnosis was made in a 53-year old female patient with a large polypoid tumor of the cecum. The lesion was predominantly mucosal, made of fibroblast-like cells associated with inflammatory infiltrates rich in eosinophils and containing entrapped, distorted epithelial glands, responsible for the juvenile-like appearance. Whole exome sequencing showed a pathogenic variant of NF1. The patient had no evidence of NF1; no NF1 mutation was detected in normal tissues. Our observation may support the existence of juvenile-like inflammatory polyps associated with NF1 alterations, either germline or somatic. This justifies to test NF1 in difficult-to-classify gastrointestinal mesenchymal tumors.
- Subjects
ADENOMATOUS polyps; COLON polyps; GASTROINTESTINAL tumors; NEUROFIBROMATOSIS 1; OLDER patients; POLYPS
- Publication
International Journal of Surgical Pathology, 2022, Vol 30, Issue 7, p823
- ISSN
1066-8969
- Publication type
Article
- DOI
10.1177/10668969221085819