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目的 通过总结1例I型神经纤维瘤病（NFI）相关性胃肠道间质瘤（GIST）的临床和病理资料，提高对该疾病病理特点及诊断的认识。方法 回顾性分析1例NFI相关性GIST的临床资料、组织学、免疫组化、基因检测、鉴别诊断，并结合相关文献进行总结。结果 患者女性，68岁，主要症状为黑便，肠镜提示空肠多发肿物、结肠多发息肉。皮肤有大量散在牛奶咖啡斑及结节。空肠肿物直径0.2～1.5 cm，切面灰白实性，质韧；镜下见肿瘤由梭形细胞组成，未见核分裂象；免疫组织化学表型：CD117、CD34、SDHB、Vimentin、Dog1呈阳性，Ki-67(+<5%),Cg A、CK-P、D2-40、Syn、S-100呈阴性，错配修复蛋白MMR(MLH1、MSH2、MSH6、PMS2)未缺失；基因检测结果：c-kit基因exon9,11,13,17突变检测示无突变；PDGFRA基因exon12,18检测示未检测到突变。腹部皮肤结节大体为灰白色不整形组织一块，大小0.8 cm×0.8 cm×0.3 cm；镜下见肿瘤细胞为细长的梭形；免疫组织化学表型：CD34、S-100、SOX10呈阳性，Ki-67(+<5%),Dog1、CD117呈阴性。结论 NFI相关性GIST临床罕见，是GIST中的一个特殊类型，为合并I型神经纤维瘤病和胃肠道间质瘤两种疾病特征的综合征，诊断主要依据临床表现、病理组织学检查、免疫组化和基因检测结合。
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基本信息:
中图分类号:R735
引用信息:
[1]杨子悦,李正金.Ⅰ型神经纤维瘤病相关性胃肠道间质瘤病理特征及分析[J].诊断病理学杂志,2025,32(12):1687-1691.
基金信息:
云南省教育厅科学研究基金（2025Y1170）
2025-10-23
2025-10-23
2025-10-23