Related Experiment Video
Updated: Jul 16, 2026
Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models
Published on: May 17, 2024
[Multiple gastrointestinal stromal tumors in neurofibromatosis type 1]
Markus Zachäus1, Andreas Plötner, Arved Weimann
12. Klinik für Innere Medizin, Städtisches Klinikum St. Georg, Leipzig, Germany. markus.zachaeus@parkkrankenhaus-leipzig.de
Background:
Gastrointestinal stromal tumors (GIST) are generally rare, but appear more frequently in patients with neurofibromatosis type 1. Mostly asymptomatic, GIST can also cause relevant clinical appearances such as gastrointestinal bleeding, obstruction, or invagination. In recent years, a significant expert knowledge was gained in biology and treatment of these tumors.
Case Report:
The case of a 50-year-old man with a history of neurofibromatosis type 1 and acute gastrointestinal bleeding is described. In the index upper endoscopy an ulcerated tumor of the proximal small bowel was found. The histopathologic examination showed a GIST. Segmental small bowel resection was carried out. Over the course of 1 year, there has been no evidence of a recurrence, metastases, or metachronous GIST.
Conclusion:
Considering the distinct biology of GIST in patients with neurofibromatosis type 1, the recommendation for a generous endoscopic examination or a routine endoscopy in this population is discussed.
