TY - JOUR
T1 - NF1-Associated Inflammatory Polyp of the Colon
T2 - First Report of a Sporadic Case
AU - Kanaan, Christina
AU - Cotteret, Sophie
AU - Khneisser, Pierre
AU - Soufan, Ranya
AU - Bani, Mohamed Amine
AU - Burtin, Pascal
AU - Sourrouille, Isabelle
AU - Ducreux, Michel
AU - Al Ghuzlan, Abir
AU - Scoazec, Jean Yves
N1 - Publisher Copyright:
© The Author(s) 2022.
PY - 2022/10/1
Y1 - 2022/10/1
N2 - “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.
AB - “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.
KW - NF1 gene
KW - inflammatory fibroid polyp
KW - juvenile-like (hyperplastic/inflammatory) mucosal polyp
KW - type 1 neurofibromatosis
UR - http://www.scopus.com/inward/record.url?scp=85126005236&partnerID=8YFLogxK
U2 - 10.1177/10668969221085819
DO - 10.1177/10668969221085819
M3 - Article
C2 - 35257620
AN - SCOPUS:85126005236
SN - 1066-8969
VL - 30
SP - 823
EP - 827
JO - International Journal of Surgical Pathology
JF - International Journal of Surgical Pathology
IS - 7
ER -