What is it about?

This is a case report on a 39-year-old Japanese who was diagnosed with small bowel GISTs associated with Neurofibromatosis type 1. He had had neurofibroma-like skin lesions since childhood but had never been further examined. He was hospitalized for evaluation of an abdominal mass. CT 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.

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Why is it important?

Gastrointestinal manifestations of NF1 are rare. However, it is known that when they are present, the usually present in the form of GISTs of the small intestine. All perviously reported cases of NF1 associated GISTs were detectable via endoscopy. In the present case however, the GIST could not be identified by the transanal balloon small bowel endoscopy, as the tumor had formed on the exterior of the intestine wall, making this case unique.

Perspectives

Inability to detect the tumor upon endoscopy made other imaging examinations (CT, EUS), along with the knowledge that NF1 can present with small bowel GISTs, crucial for the diagnosis of suppository GISTs prior to surgical resection. This case emphasized the importance of the knowledge that NF1 can harbor intestinal GISTs.

Satomi Saito
Tokyo Women's Medical University

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This page is a summary of: Multiple Small Bowel Gastrointestinal Stromal Tumors Associated with Neurofibromatosis Type 1 that Were Not Detected by Endoscopy: A Case Report, Case Reports in Gastroenterology, March 2023, Karger Publishers,
DOI: 10.1159/000529340.
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