Ahn Dyne, Cho Yu Kyung, Choi In Hyoung, Kim Sol, Kim Ilsoo, Kang Donghoon, Park Jae Myung
Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Korean J Helicobacter Up Gastrointest Res. 2025 Sep;25(3):292-295. doi: 10.7704/kjhugr.2025.0034. Epub 2025 Sep 1.
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that primarily affects the skin and nervous system, leading to characteristic skin changes and the development of benign or malignant tumors with a broad spectrum of severity and complications. Gastrointestinal stromal tumors (GISTs) are the most common non-neurological tumors occurring in patients with NF1. The clinical, genetic, and pathological features of these tumors differ significantly from those of sporadic GISTs. Very rarely, other gastrointestinal malignancies, such as small bowel adenocarcinomas, neuroendocrine tumors, and gastric adenocarcinomas, have occurred in patients with NF1. Here, we report a case of multiple duodenal GISTs and early gastric cancer in a patient with NF1.
1型神经纤维瘤病（NF1）是一种多系统遗传性疾病，主要影响皮肤和神经系统，导致特征性的皮肤变化以及出现严重程度和并发症范围广泛的良性或恶性肿瘤。胃肠道间质瘤（GIST）是NF1患者中最常见的非神经源性肿瘤。这些肿瘤的临床、遗传和病理特征与散发性GIST有显著差异。非常罕见的是，NF1患者还会发生其他胃肠道恶性肿瘤，如小肠腺癌、神经内分泌肿瘤和胃腺癌。在此，我们报告1例NF1患者发生多发十二指肠GIST和早期胃癌的病例。
