Synchronous doudenal papilla cancer and gastrointestinal stromal tumors in a patient with von recklinghausen's disease—a case report—

Abstract

A genetic disorder, von Reckinghausen's disease (VRD), is known to be complicated with non-epidermal tumors. We report here a case of VRD in whom non-epidermal tumors and a carcinoma were observed simultaneously. A 64-year-old female patient was referred to our hospital, complaining of jaundice. Gastroendoscopy revealed a tumor at the papilla Vater, and adenocarcinoma was confirmed in the biopsy specimen. She underwent pylorus-preserving pancreatoduodenectomuy resulting in curative resection. During the surgery, a tumor, 3.5cm in diameter, was found on the jejunum near the Treitz's ligament and was also extirpated. This tumor was diagnosed as gastrointestinal stromal tumor (GIST), with positive staining for c-kit and CD34 by immunohistochemistry. Histlogical examination showed many small tumors, suggestive of premature GIST in the resected duodenum.
We assume that genetic mutations, related to VRD and GIST, might have played some role in carcinogenesis in this case.