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• W4220941024 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." @default.
• W4220941024 created "2022-04-03" @default.
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• W4220941024 date "2022-03-08" @default.
• W4220941024 modified "2023-10-17" @default.
• W4220941024 title "<i>NF1</i>-Associated Inflammatory Polyp of the Colon: First Report of a Sporadic Case" @default.
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• W4220941024 doi "https://doi.org/10.1177/10668969221085819" @default.
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