NF1-Associated Inflammatory Polyp of the Colon: First Report of a Sporadic Case

Christina Kanaan, Sophie Cotteret, Pierre Khneisser, Ranya Soufan, Mohamed Amine Bani, Pascal Burtin, Isabelle Sourrouille, Michel Ducreux, Abir Al Ghuzlan, Jean Yves Scoazec

    Résultats de recherche: Contribution à un journalArticleRevue par des pairs

    2 Citations (Scopus)

    Résumé

    “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.

    langue originaleAnglais
    Pages (de - à)823-827
    Nombre de pages5
    journalInternational Journal of Surgical Pathology
    Volume30
    Numéro de publication7
    Les DOIs
    étatPublié - 1 oct. 2022

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