Gustave Roussy Cancer Campus, Département de Biologie et Pathologie Médicales, Service de Pathologie morphologique, Villejuif, France.
Gustave Roussy Cancer Campus, Département de Biologie et Pathologie Médicales, Service de Génétique des Tumeurs, Villejuif, France.
Int J Surg Pathol. 2022 Oct;30(7):823-827. doi: 10.1177/10668969221085819. Epub 2022 Mar 8.
"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 -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 . The patient had no evidence of NF1; no mutation was detected in normal tissues. Our observation may support the existence of juvenile-like inflammatory polyps associated with alterations, either germline or somatic. This justifies to test in difficult-to-classify gastrointestinal mesenchymal tumors.
“幼年样（增生性/炎症性）黏膜息肉”是一个术语，用于描述胃肠道罕见的良性间叶性病变，迄今为止仅在 1 型神经纤维瘤病（NF1）患者中报道。我们在此报告首例散发性结肠相关黏膜炎症性息肉病例。该诊断是在一位 53 岁女性患者中做出的，她患有盲肠的大型息肉样肿瘤。病变主要位于黏膜，由成纤维细胞样细胞组成，伴有富含嗜酸性粒细胞的炎症浸润，其中包含被困、扭曲的上皮腺体，这是其呈现幼年样外观的原因。全外显子组测序显示 存在致病性变异。该患者无 NF1 证据；在正常组织中未检测到 突变。我们的观察结果可能支持存在与 改变相关的幼年样炎症性息肉，无论是种系还是体细胞。这证明在难以分类的胃肠道间质瘤中检测 是合理的。
