【佳学基因检测】NF1 相关结肠炎性息肉：第一份散发病例报告

肿瘤基因检测十大公司排序

阅读肿瘤基因解码协会如何提升基因检测的准确性知悉《Int J Surg Pathol》在. 2022 Oct;30(7):823-827.发表了一篇题目为《NF1 相关结肠炎性息肉：第一份散发病例报告》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Christina Kanaan , Sophie Cotteret , Pierre Khneisser , Ranya Soufan , Mohamed-Amine Bani , Pascal Burtin , Isabelle Sourrouille , Michel Ducreux  , Abir Al Ghuzlan , Jean-Yves Scoazec  等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤标志物研究内容关键词：

NF1基因,炎性纤维瘤息肉,幼年样（增生/炎症）粘膜息肉, 1型神经纤维瘤病

肿瘤靶向治疗基因检测临床应用结果

“幼年样（增生性/炎症性）粘膜息肉”是一个术语，用于描述迄今为止仅在 1 型神经纤维瘤病 (NF1) 患者中报道的罕见的胃肠道良性间充质病变。我们在此报告首例 NF1 相关结肠黏膜炎性息肉的散发病例。诊断是在一名患有盲肠大息肉样肿瘤的 53 岁女性患者中作出的。病变主要是黏膜，由与富含嗜酸性粒细胞的炎症浸润相关的成纤维细胞样细胞组成，并含有被包裹的、扭曲的上皮腺体，导致幼年样外观。全外显子组测序显示 NF1 的致病性变异。患者没有 NF1 的证据；在正常组织中未检测到NF1突变。我们的观察结果可能支持与 NF1 改变相关的幼年样炎性息肉的存在，无论是生殖细胞还是体细胞。这证明了在难以分类的胃肠道间充质肿瘤中检测 NF1 是合理的。炎性纤维瘤息肉；幼年样（增生/炎症）粘膜息肉； 1型神经纤维瘤病。

肿瘤发生与复发转移国际数据库描述：

"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.Keywords: NF1 gene; inflammatory fibroid polyp; juvenile-like (hyperplastic/inflammatory) mucosal polyp; type 1 neurofibromatosis.