Multiple Small Bowel Gastrointestinal Stromal Tumors Associated with Neurofibromatosis Type 1 that Were Not Detected by Endoscopy: A Case Report
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 en...
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| Veröffentlicht in: | Case Reports in Gastroenterology 2023-01, Vol.17 (1), p.167-174 |
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| container_title | Case Reports in Gastroenterology |
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| creator | Saito, Satomi Omori, Teppei Murasugi, Shun Yonezawa, Maria Takayama, Yukiko Ohki, Takeshi Onizuka, Hiromi Nagashima, Yoji Tokushige, Katsutoshi |
| description | 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. |
| doi_str_mv | 10.1159/000529340 |
| format | Article |
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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.</description><identifier>ISSN: 1662-0631</identifier><identifier>EISSN: 1662-0631</identifier><identifier>DOI: 10.1159/000529340</identifier><identifier>PMID: 36910880</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Abdomen ; Asymptomatic ; balloon-assisted enteroscopy ; Biopsy ; Bladder ; Brain cancer ; Case reports ; Colorectal cancer ; CT imaging ; Diagnostic imaging ; Endoscopy ; Gastrointestinal cancer ; Gastrointestinal diseases ; gastrointestinal stromal tumors ; Genetic disorders ; Genetic testing ; Intestines ; Laboratories ; Mutation ; Neurofibromatosis ; neurofibrome type 1 ; Neurological disorders ; Single Case ; Skin ; small bowel tumor ; Small intestine ; Tomography ; Tumors ; Ultrasonic imaging</subject><ispartof>Case Reports in Gastroenterology, 2023-01, Vol.17 (1), p.167-174</ispartof><rights>2023 The Author(s). Published by S. Karger AG, Basel</rights><rights>2023 The Author(s). Published by S. Karger AG, Basel.</rights><rights>COPYRIGHT 2023 S. Karger AG</rights><rights>2023 The Author(s). Published by S. Karger AG, Basel. 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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. 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| subjects | Abdomen Asymptomatic balloon-assisted enteroscopy Biopsy Bladder Brain cancer Case reports Colorectal cancer CT imaging Diagnostic imaging Endoscopy Gastrointestinal cancer Gastrointestinal diseases gastrointestinal stromal tumors Genetic disorders Genetic testing Intestines Laboratories Mutation Neurofibromatosis neurofibrome type 1 Neurological disorders Single Case Skin small bowel tumor Small intestine Tomography Tumors Ultrasonic imaging |
| title | Multiple Small Bowel Gastrointestinal Stromal Tumors Associated with Neurofibromatosis Type 1 that Were Not Detected by Endoscopy: A Case Report |
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