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1型神经纤维瘤病相关的多发小肠胃肠道间质瘤,内镜检查未检出:一例报告

Multiple Small Bowel Gastrointestinal Stromal Tumors Associated with Neurofibromatosis Type 1 that Were Not Detected by Endoscopy: A Case Report.

作者信息

Saito Satomi, Omori Teppei, Murasugi Shun, Yonezawa Maria, Takayama Yukiko, Ohki Takeshi, Onizuka Hiromi, Nagashima Yoji, Tokushige Katsutoshi

机构信息

Institute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Tokyo, Japan.

Institute of Gastroenterology, Department of Surgery, Tokyo Women's Medical University, Tokyo, Japan.

出版信息

Case Rep Gastroenterol. 2023 Mar 8;17(1):160-167. doi: 10.1159/000529340. eCollection 2023 Jan-Dec.

Abstract

We treated a 39-year-old Japanese man who was admitted for an abdominal mass. He had had neurofibroma-like skin lesions since childhood. Computed tomography and endoscopic ultrasound results were consistent with a tumor in the small intestine. Although the tumor was undetectable by single-balloon endoscopy, the patient's background and imaging results led us to suspect a gastrointestinal stromal tumor (GIST). He also met the diagnostic criteria for neurofibroma type 1 (NF1). We performed a surgical removal of the tumor, and the biopsy results led to a definitive diagnosis of GIST. Small bowel GISTs should be considered in cases of NF1.

摘要

我们治疗了一名因腹部肿块入院的39岁日本男性。他自幼就有神经纤维瘤样皮肤病变。计算机断层扫描和内镜超声检查结果与小肠肿瘤相符。尽管单气囊内镜检查未发现该肿瘤,但患者的背景和影像学结果使我们怀疑是胃肠道间质瘤(GIST)。他也符合1型神经纤维瘤(NF1)的诊断标准。我们对肿瘤进行了手术切除,活检结果确诊为GIST。对于NF1患者,应考虑小肠GIST的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17da/9996247/b67ad095d936/crg-2022-0017-0001-529340_f1.jpg

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