Abstract
We report two cases with von Recklinghausen's disease (VRD) complicated by gastrointestinal stromal tumor. Patient 1 was a previously healthy 46-year-old man with multiple café au lait spots who presented with abdominal pain having passed a large amount of tarry stool. CT scan and a selective SMA angiogram demonstrated multiple tumor stains in the upper jejunum. Interventional radiology (IVR) was employed to stabilize the patient's hemodynamic state, and then emergency surgery was done. On laparotomy, multiple submucosal tumors in the jejunum were noted, and a partial resection of the jejunum was performed. Patient 2 was a previously healthy 62-year-old man with multiple café au lait spots who presented with a history of tarry stools and a severe anemia. A selective SMS angiogram demonstrated multiple tumor stains in the upper jejunum and duodenum. Laparotomy revealed multiple submucosal tumors in the jejunum and duodenum, and a partial resection of the jejunum and duodenum was performed. Selective angiography and IVR are useful modalities for managing unstable patients who have ongoing bleeding from the small intestine. On immunohistochemistry, both tumors were positive for c-kit and CD34, and they were diagnosed as gastrointestinal stromal tumor (GIST). However, genomic analysis of the c-kit gene and the PDGF-Rα gene did not show any mutations. In the future, we hope to identify the precise etiology and the optimal medical treatment options for VRD patients with GIST.
