Multiple familial gastrointestinal autonomic nerve tumors and small intestinal neuronal dysplasia

Multiple small intestinal stromal tumors were removed from mother and natur al daughter within 15 months of each other. Both had long histories of recu rrent iron deficiency anemia and upper gastrointestinal bleeding. Light mic roscopy revealed that the tumors had arisen in conjunction with diffuse hyp erplasia/ dysplasia of Auerbach's myenteric plexus. Immunohistochemistry ge nerally did not show myogenic or paraganglionic phenotypes: CD34 was positi ve in most tumors. Electron microscopy confirmed the association with the a bnormal Auerbach's plexus and showed the structure of gastrointestinal auto nomic nerve tumors (GANTs). These findings provide information as to the or igin and evolution of GANTs, and also have implications for the clinical ma nagement of these tumors which appear to occur more frequently than previou sly thought.