Small bowel gist and adenocarcinoma in Recklinghausen disease

Background: Neurofibromatosis type 1 or Recklinghausen disease is one of the most common hereditary autosomal dominant diseases. 50% of the cases present as new mutations. The disease-causing gene can be found on chromosome 17 as an NF1 tumor suppressor gene. The mutation of this gene leads to the loss of tumor suppressor function, thus the development of benign and malignant tumors. In 25% of the cases gastrointestinal manifestations are found, most often GIST. The second most frequent tumor is the gastrointestinal adenocarcinoma (47%). Case report: We report a 63 -year-old male with weight loss and typical sig…