Stromal, Fibrous, and Fatty Gastrointestinal Tumors in a Patient With a PDGFRA Gene Mutation

We report the case of a woman with 3 different types of gastrointestinal tumors--stromal, fibrous, and fatty--and a germline defect of the platelet-derived growth factor receptor alpha (PDGFRA) gene (V561D). The patient, now 52 years old, presented in 1977 at age 22 years with a gastric tumor and a duodenal lipoma. Subsequently, she developed obstructing small intestinal fibrous tumors that required 3 laparotomies and intestinal resections. Most recently (in 2002), more than 100 fibrous tumors were resected and also multiple small intestinal lipomas and multiple gastric KIT, PDGFRalpha, and CD34-positive stromal tumors. The nosology of the fibrous tumors was not clear. The lesions were hypocellular and featured poorly outlined spindle, stellate, and polygonal CD34 positive, and KIT- and PDGFRalpha-negative cells. They extended through the muscularis propria, expanded the subserosa, and occasionally extended into the mesentery but did not metastasize. The patient is currently asymptomatic; radiologic study in June 2007 revealed postoperative changes only. None of the patient's primary relatives have had similar tumors.