A case of multiple gastrointestinal stromal tumors (gists) of the jejunum associated with von recklinghausen's disease

Abstract

It is known that von Recklinghausen's disease (R's disease) is occasionally associated with gastrointestinal tumors such as neurofibromas and carcinoids. Lately, gastrointestinal stromal tumors (GISTs) in patients with R's disease have been reported with an increasing frequency. We present a case of multiple GISTs of the jejunum associated with R's disease.
A 53-year-old woman with R's disease was admitted to our hospital because of tarry stool and vomiting. Abdominal CT scan revealed a tumor 7cm in diameter in the pelvic cavity, and the tumor was found to be fed by the superior mesenteric artery by abdominal angiography. Laparotomy was performed with a diagnosis of GIST of the small intestine. At surgery a 7cm- and a 2cm-sized tumors were present in the upper jejunum and a 1cm-sized disseminated nodule, in the omentum. Partial resection of the jejunum and removal of disseminated nodule of the omentum were performed. The resected specimes were immunohistochemically positive for KIT and CD34, and were diagnosed as GIST.
A total of 25 cases of GIST with R's disease including out case have been reported in the past decade. Clinicopathological features are discussed, together with a review of the literature.