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 signs of Recklinghausen disease. CT enterography showed ileal conglomerate. During exploration a tumorous mass was found with adhesions to bladder and sigmoid colon. R 0 resection was done and histology revealed two separate malignant tumor: intestinal type adenocarcinoma and GIST.

Discussion: GIST develops in 7% of patients with neurofibromatosis, and among these patients the occurrence of NF1 is 150 – 180 times more frequent than in the general population. Neurofibromatosis associated with GIST is a different entity and, unlike sporadic GIST, it is usually multiplex and almost always develops in the small bowel. Histological characteristics include spindle cell type, skenoid fibers and frequent S100 positivity. Low mitotic activity usually suggests better prognosis. C-KIT and PDGFRA mutation is very rare, in agreement with the hypothesis that the pathogenesis of NF1-GIST is not c-KIT dependent. It is presumed that neurofibromatosis associated and sporadic GIST have different pathogenesis, and that the development of GIST tumor in neurofibromatosis is part of the hereditary disease.

Conclusion: Should be considered in patients with neurofibromatosis suffering abdominal pain, gastrointestinal bleeding GIST. Must be frequently associated with syncron and metachron subject tumors. This case showed the literature associated with neurofibromatosis appropriate GIST features here are, through which we had the opportunity of this special group of GIST study and presented.