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Gastrointestinal stromal tumors (GISTs), though rare, are associated with neurofibromatosis (NF) type 1 and may cause significant gastrointestinal bleeding. A 42-year-old male with NF1 presented with severe hematochezia and underwent initial non-contrast CT, which was negative for abnormalities. Subsequent endoscopies and PillCam studies also revealed no clear bleeding source. Due to persistent bleeding and hemodynamic instability, a contrast-enhanced CT was eventually performed, revealing a hyper-enhancing mass in the proximal ileum. Emergent surgical exploration identified a 1.5-cm jejunal GIST, which was resected successfully, stabilizing the patient who was discharged without the need for adjuvant therapy. This case highlights the importance of early contrast-enhanced imaging in NF1 patients presenting with acute bleeding to facilitate timely diagnosis, reduce hospital resource utilization, and avoid unnecessary invasive procedures.
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Parikh et al. (2024) studied this question.
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